Incidental Mutation 'R7467:Prrc2c'
| ID |
578828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prrc2c
|
| Ensembl Gene |
ENSMUSG00000040225 |
| Gene Name |
proline-rich coiled-coil 2C |
| Synonyms |
9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2 |
| MMRRC Submission |
045541-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R7467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162499354-162568125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162504932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 2638
(S2638R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028016]
[ENSMUST00000182149]
[ENSMUST00000182393]
[ENSMUST00000182593]
[ENSMUST00000182660]
[ENSMUST00000183223]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028016
AA Change: S2636R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: S2636R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
164 |
7.7e-56 |
PFAM |
|
internal_repeat_2
|
167 |
349 |
4.39e-5 |
PROSPERO |
|
internal_repeat_1
|
336 |
391 |
2.14e-5 |
PROSPERO |
|
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
447 |
591 |
2e-5 |
SMART |
|
low complexity region
|
649 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
996 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1186 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1240 |
1295 |
2.14e-5 |
PROSPERO |
|
low complexity region
|
1308 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1388 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1746 |
N/A |
INTRINSIC |
|
low complexity region
|
1765 |
1803 |
N/A |
INTRINSIC |
|
low complexity region
|
1815 |
1832 |
N/A |
INTRINSIC |
|
low complexity region
|
1844 |
1909 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1962 |
2148 |
4.39e-5 |
PROSPERO |
|
low complexity region
|
2163 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2252 |
N/A |
INTRINSIC |
|
low complexity region
|
2272 |
2286 |
N/A |
INTRINSIC |
|
low complexity region
|
2321 |
2338 |
N/A |
INTRINSIC |
|
low complexity region
|
2427 |
2438 |
N/A |
INTRINSIC |
|
low complexity region
|
2553 |
2576 |
N/A |
INTRINSIC |
|
low complexity region
|
2811 |
2828 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182149
AA Change: S2638R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: S2638R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
167 |
5.6e-73 |
PFAM |
|
internal_repeat_1
|
336 |
391 |
1.49e-5 |
PROSPERO |
|
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
447 |
591 |
2e-5 |
SMART |
|
low complexity region
|
649 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
745 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
754 |
925 |
9.16e-5 |
PROSPERO |
|
coiled coil region
|
996 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1186 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1240 |
1295 |
1.49e-5 |
PROSPERO |
|
low complexity region
|
1308 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1388 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1746 |
N/A |
INTRINSIC |
|
low complexity region
|
1765 |
1803 |
N/A |
INTRINSIC |
|
low complexity region
|
1815 |
1832 |
N/A |
INTRINSIC |
|
low complexity region
|
1844 |
1909 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1962 |
2148 |
3.08e-5 |
PROSPERO |
|
internal_repeat_3
|
1983 |
2153 |
9.16e-5 |
PROSPERO |
|
low complexity region
|
2163 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2252 |
N/A |
INTRINSIC |
|
low complexity region
|
2272 |
2286 |
N/A |
INTRINSIC |
|
low complexity region
|
2321 |
2338 |
N/A |
INTRINSIC |
|
low complexity region
|
2427 |
2438 |
N/A |
INTRINSIC |
|
low complexity region
|
2553 |
2576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182393
AA Change: S1359R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225
AA Change: S1359R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
968 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1037 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1274 |
1297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182593
AA Change: S2636R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: S2636R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
165 |
4.1e-70 |
PFAM |
|
internal_repeat_1
|
334 |
389 |
9.57e-6 |
PROSPERO |
|
low complexity region
|
405 |
412 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
445 |
589 |
3e-5 |
SMART |
|
low complexity region
|
647 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
743 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
752 |
923 |
6.11e-5 |
PROSPERO |
|
coiled coil region
|
994 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1184 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1220 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1238 |
1293 |
9.57e-6 |
PROSPERO |
|
low complexity region
|
1306 |
1333 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1713 |
1744 |
N/A |
INTRINSIC |
|
low complexity region
|
1763 |
1801 |
N/A |
INTRINSIC |
|
low complexity region
|
1813 |
1830 |
N/A |
INTRINSIC |
|
low complexity region
|
1842 |
1907 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1960 |
2146 |
2.01e-5 |
PROSPERO |
|
internal_repeat_3
|
1981 |
2151 |
6.11e-5 |
PROSPERO |
|
low complexity region
|
2161 |
2175 |
N/A |
INTRINSIC |
|
low complexity region
|
2228 |
2250 |
N/A |
INTRINSIC |
|
low complexity region
|
2270 |
2284 |
N/A |
INTRINSIC |
|
low complexity region
|
2319 |
2336 |
N/A |
INTRINSIC |
|
low complexity region
|
2425 |
2436 |
N/A |
INTRINSIC |
|
low complexity region
|
2551 |
2574 |
N/A |
INTRINSIC |
|
low complexity region
|
2671 |
2682 |
N/A |
INTRINSIC |
|
low complexity region
|
2730 |
2747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182660
AA Change: S2638R
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: S2638R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
167 |
7e-73 |
PFAM |
|
internal_repeat_1
|
336 |
391 |
2.14e-5 |
PROSPERO |
|
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
447 |
591 |
2e-5 |
SMART |
|
low complexity region
|
649 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
996 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1186 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1240 |
1295 |
2.14e-5 |
PROSPERO |
|
low complexity region
|
1308 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1388 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1746 |
N/A |
INTRINSIC |
|
low complexity region
|
1765 |
1803 |
N/A |
INTRINSIC |
|
low complexity region
|
1815 |
1832 |
N/A |
INTRINSIC |
|
low complexity region
|
1844 |
1909 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1962 |
2148 |
4.39e-5 |
PROSPERO |
|
low complexity region
|
2163 |
2177 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2252 |
N/A |
INTRINSIC |
|
low complexity region
|
2272 |
2286 |
N/A |
INTRINSIC |
|
low complexity region
|
2321 |
2338 |
N/A |
INTRINSIC |
|
low complexity region
|
2427 |
2438 |
N/A |
INTRINSIC |
|
low complexity region
|
2553 |
2576 |
N/A |
INTRINSIC |
|
low complexity region
|
2811 |
2828 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183223
AA Change: S1147R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225
AA Change: S1147R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1258 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (103/105) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 56,098,952 (GRCm39) |
V153I |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,331 (GRCm39) |
Y443H |
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,215,339 (GRCm39) |
V434A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,898,422 (GRCm39) |
M199T |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,940,330 (GRCm39) |
|
probably null |
Het |
| AU040320 |
A |
G |
4: 126,708,103 (GRCm39) |
T240A |
probably benign |
Het |
| Btf3l4 |
A |
T |
4: 108,675,589 (GRCm39) |
|
probably null |
Het |
| Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
| Cdk15 |
G |
T |
1: 59,328,938 (GRCm39) |
W282L |
probably null |
Het |
| Cflar |
T |
A |
1: 58,765,597 (GRCm39) |
M1K |
probably null |
Het |
| Champ1 |
C |
A |
8: 13,928,579 (GRCm39) |
P246T |
possibly damaging |
Het |
| Crat |
A |
C |
2: 30,299,994 (GRCm39) |
F129V |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,640 (GRCm39) |
N2256S |
|
Het |
| Cwh43 |
C |
A |
5: 73,569,311 (GRCm39) |
Q118K |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 72,032,580 (GRCm39) |
K949* |
probably null |
Het |
| Ddn |
C |
G |
15: 98,703,247 (GRCm39) |
E682Q |
possibly damaging |
Het |
| Des |
T |
A |
1: 75,339,605 (GRCm39) |
M321K |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,230,236 (GRCm39) |
E2610K |
probably benign |
Het |
| Efr3a |
C |
T |
15: 65,729,360 (GRCm39) |
T660I |
possibly damaging |
Het |
| Eogt |
T |
C |
6: 97,119,794 (GRCm39) |
E138G |
probably benign |
Het |
| Epha8 |
G |
A |
4: 136,658,399 (GRCm39) |
A992V |
possibly damaging |
Het |
| Exoc2 |
A |
T |
13: 31,109,716 (GRCm39) |
D217E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,173 (GRCm39) |
S245P |
probably damaging |
Het |
| Fbxo45 |
T |
C |
16: 32,057,339 (GRCm39) |
Y185C |
probably damaging |
Het |
| Fbxo47 |
T |
C |
11: 97,755,993 (GRCm39) |
T170A |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,561,765 (GRCm39) |
V143E |
probably benign |
Het |
| Foxb2 |
T |
C |
19: 16,851,004 (GRCm39) |
M1V |
probably null |
Het |
| Gm11596 |
C |
A |
11: 99,683,962 (GRCm39) |
V53L |
unknown |
Het |
| Gm47791 |
A |
G |
1: 82,748,547 (GRCm39) |
*140Q |
probably null |
Het |
| Gpr179 |
C |
T |
11: 97,226,115 (GRCm39) |
M2013I |
probably benign |
Het |
| Hck |
T |
A |
2: 152,971,850 (GRCm39) |
L137* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,462,024 (GRCm39) |
C964S |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,464,683 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
C |
A |
4: 88,521,502 (GRCm39) |
S15I |
possibly damaging |
Het |
| Kif18b |
C |
A |
11: 102,807,234 (GRCm39) |
V34L |
probably damaging |
Het |
| Kif18b |
A |
T |
11: 102,803,174 (GRCm39) |
|
probably null |
Het |
| Kifap3 |
A |
T |
1: 163,643,402 (GRCm39) |
H209L |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,360,713 (GRCm39) |
D712E |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,513,530 (GRCm39) |
D3088G |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,953 (GRCm39) |
Y250H |
probably damaging |
Het |
| Manba |
G |
T |
3: 135,250,562 (GRCm39) |
E396D |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,852,669 (GRCm39) |
V997E |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,155,448 (GRCm39) |
H41R |
probably benign |
Het |
| Mis18a |
T |
G |
16: 90,516,866 (GRCm39) |
M179L |
probably benign |
Het |
| Mmp25 |
C |
G |
17: 23,863,756 (GRCm39) |
G25R |
possibly damaging |
Het |
| Mmp3 |
A |
G |
9: 7,447,621 (GRCm39) |
D202G |
possibly damaging |
Het |
| Mmp3 |
C |
T |
9: 7,450,125 (GRCm39) |
P286S |
probably benign |
Het |
| Mrgpra2b |
G |
A |
7: 47,114,277 (GRCm39) |
H152Y |
possibly damaging |
Het |
| Mslnl |
A |
T |
17: 25,955,895 (GRCm39) |
M1L |
probably benign |
Het |
| Myo1d |
G |
A |
11: 80,477,743 (GRCm39) |
T880I |
probably damaging |
Het |
| Ncaph |
T |
A |
2: 126,975,795 (GRCm39) |
|
probably benign |
Het |
| Nln |
T |
C |
13: 104,161,530 (GRCm39) |
D680G |
possibly damaging |
Het |
| Noct |
C |
T |
3: 51,132,622 (GRCm39) |
A33V |
probably benign |
Het |
| Nolc1 |
A |
G |
19: 46,070,773 (GRCm39) |
T325A |
unknown |
Het |
| Nr2e3 |
A |
G |
9: 59,856,434 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
A |
18: 36,155,459 (GRCm39) |
H450L |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,999,287 (GRCm39) |
N133S |
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,288 (GRCm39) |
N294K |
possibly damaging |
Het |
| Or5ak24 |
T |
G |
2: 85,261,171 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or5an1 |
T |
A |
19: 12,260,839 (GRCm39) |
C142* |
probably null |
Het |
| Or6b3 |
T |
A |
1: 92,439,570 (GRCm39) |
Y60F |
possibly damaging |
Het |
| Pank2 |
T |
A |
2: 131,115,967 (GRCm39) |
N128K |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,584 (GRCm39) |
V442A |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,659,792 (GRCm39) |
S252T |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,405,878 (GRCm39) |
L43S |
probably damaging |
Het |
| Pigu |
T |
A |
2: 155,141,009 (GRCm39) |
I295F |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,651,166 (GRCm39) |
Y414H |
possibly damaging |
Het |
| Ppp1r13l |
A |
T |
7: 19,105,305 (GRCm39) |
Q359L |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,519,317 (GRCm39) |
Y263C |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,538,473 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
G |
A |
1: 86,044,355 (GRCm39) |
V648M |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,545,735 (GRCm39) |
D1196G |
probably damaging |
Het |
| Rfx1 |
T |
C |
8: 84,800,542 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Rgs20 |
A |
G |
1: 4,982,553 (GRCm39) |
I305T |
probably benign |
Het |
| Rpl9 |
T |
C |
5: 65,548,310 (GRCm39) |
T9A |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,325,313 (GRCm39) |
N598D |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,868,705 (GRCm39) |
Y606H |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,538,088 (GRCm39) |
S1150P |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,157,929 (GRCm39) |
N495S |
probably benign |
Het |
| Slc17a3 |
T |
C |
13: 24,030,950 (GRCm39) |
|
probably null |
Het |
| Slc25a22 |
T |
C |
7: 141,013,889 (GRCm39) |
T24A |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,502,987 (GRCm39) |
I363T |
probably benign |
Het |
| Srbd1 |
A |
G |
17: 86,406,702 (GRCm39) |
V561A |
probably damaging |
Het |
| Srgap1 |
C |
A |
10: 121,691,344 (GRCm39) |
E297* |
probably null |
Het |
| Srgap2 |
T |
C |
1: 131,220,405 (GRCm39) |
S896G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,237 (GRCm39) |
C3730R |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,113,772 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
T |
C |
18: 60,964,977 (GRCm39) |
K581E |
unknown |
Het |
| Tdpoz6 |
T |
A |
3: 93,600,265 (GRCm39) |
T35S |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,948,681 (GRCm39) |
S446P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,331,584 (GRCm39) |
Y1330C |
|
Het |
| Tmem121 |
C |
A |
12: 113,152,690 (GRCm39) |
P303T |
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,691,071 (GRCm39) |
|
probably null |
Het |
| Tmem98 |
A |
T |
11: 80,711,011 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,955,698 (GRCm39) |
I1091N |
possibly damaging |
Het |
| Urb2 |
A |
G |
8: 124,755,250 (GRCm39) |
E319G |
probably benign |
Het |
| Vmn1r170 |
A |
T |
7: 23,306,320 (GRCm39) |
M241L |
not run |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,393 (GRCm39) |
N7S |
probably benign |
Het |
| Wdr6 |
T |
C |
9: 108,450,201 (GRCm39) |
H1109R |
probably benign |
Het |
| Zdhhc13 |
T |
C |
7: 48,454,156 (GRCm39) |
V193A |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,706,253 (GRCm39) |
Y274C |
probably damaging |
Het |
| Zfp738 |
T |
A |
13: 67,821,080 (GRCm39) |
E89V |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,661,795 (GRCm39) |
F92I |
possibly damaging |
Het |
|
| Other mutations in Prrc2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Prrc2c
|
APN |
1 |
162,548,182 (GRCm39) |
splice site |
probably null |
|
|
IGL00577:Prrc2c
|
APN |
1 |
162,525,685 (GRCm39) |
missense |
unknown |
|
|
IGL00580:Prrc2c
|
APN |
1 |
162,525,685 (GRCm39) |
missense |
unknown |
|
|
IGL01295:Prrc2c
|
APN |
1 |
162,510,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Prrc2c
|
APN |
1 |
162,538,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01684:Prrc2c
|
APN |
1 |
162,534,031 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01745:Prrc2c
|
APN |
1 |
162,552,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01770:Prrc2c
|
APN |
1 |
162,532,068 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01905:Prrc2c
|
APN |
1 |
162,532,898 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02304:Prrc2c
|
APN |
1 |
162,511,705 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02389:Prrc2c
|
APN |
1 |
162,520,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Prrc2c
|
APN |
1 |
162,550,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Prrc2c
|
APN |
1 |
162,533,181 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02686:Prrc2c
|
APN |
1 |
162,535,516 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02795:Prrc2c
|
APN |
1 |
162,541,868 (GRCm39) |
missense |
probably benign |
|
|
IGL02894:Prrc2c
|
APN |
1 |
162,505,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Prrc2c
|
APN |
1 |
162,534,104 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02981:Prrc2c
|
APN |
1 |
162,532,748 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03070:Prrc2c
|
APN |
1 |
162,504,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03096:Prrc2c
|
APN |
1 |
162,529,928 (GRCm39) |
missense |
unknown |
|
|
R0058:Prrc2c
|
UTSW |
1 |
162,526,453 (GRCm39) |
missense |
unknown |
|
|
R0058:Prrc2c
|
UTSW |
1 |
162,526,453 (GRCm39) |
missense |
unknown |
|
|
R0135:Prrc2c
|
UTSW |
1 |
162,543,052 (GRCm39) |
splice site |
probably benign |
|
|
R0279:Prrc2c
|
UTSW |
1 |
162,543,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0363:Prrc2c
|
UTSW |
1 |
162,525,380 (GRCm39) |
missense |
unknown |
|
|
R0436:Prrc2c
|
UTSW |
1 |
162,532,883 (GRCm39) |
unclassified |
probably benign |
|
|
R0605:Prrc2c
|
UTSW |
1 |
162,509,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0696:Prrc2c
|
UTSW |
1 |
162,536,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0981:Prrc2c
|
UTSW |
1 |
162,533,550 (GRCm39) |
unclassified |
probably benign |
|
|
R1693:Prrc2c
|
UTSW |
1 |
162,546,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1714:Prrc2c
|
UTSW |
1 |
162,504,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Prrc2c
|
UTSW |
1 |
162,532,551 (GRCm39) |
unclassified |
probably benign |
|
|
R1794:Prrc2c
|
UTSW |
1 |
162,533,528 (GRCm39) |
unclassified |
probably benign |
|
|
R1998:Prrc2c
|
UTSW |
1 |
162,532,487 (GRCm39) |
unclassified |
probably benign |
|
|
R2040:Prrc2c
|
UTSW |
1 |
162,525,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Prrc2c
|
UTSW |
1 |
162,537,903 (GRCm39) |
unclassified |
probably benign |
|
|
R2246:Prrc2c
|
UTSW |
1 |
162,535,360 (GRCm39) |
unclassified |
probably benign |
|
|
R2830:Prrc2c
|
UTSW |
1 |
162,536,485 (GRCm39) |
unclassified |
probably benign |
|
|
R2926:Prrc2c
|
UTSW |
1 |
162,533,696 (GRCm39) |
unclassified |
probably benign |
|
|
R3703:Prrc2c
|
UTSW |
1 |
162,538,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Prrc2c
|
UTSW |
1 |
162,525,754 (GRCm39) |
missense |
unknown |
|
|
R3760:Prrc2c
|
UTSW |
1 |
162,520,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Prrc2c
|
UTSW |
1 |
162,537,238 (GRCm39) |
unclassified |
probably benign |
|
|
R3959:Prrc2c
|
UTSW |
1 |
162,536,461 (GRCm39) |
unclassified |
probably benign |
|
|
R4255:Prrc2c
|
UTSW |
1 |
162,533,895 (GRCm39) |
unclassified |
probably benign |
|
|
R4276:Prrc2c
|
UTSW |
1 |
162,501,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R4593:Prrc2c
|
UTSW |
1 |
162,525,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Prrc2c
|
UTSW |
1 |
162,550,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Prrc2c
|
UTSW |
1 |
162,550,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Prrc2c
|
UTSW |
1 |
162,508,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Prrc2c
|
UTSW |
1 |
162,532,748 (GRCm39) |
unclassified |
probably benign |
|
|
R4688:Prrc2c
|
UTSW |
1 |
162,525,256 (GRCm39) |
missense |
unknown |
|
|
R4753:Prrc2c
|
UTSW |
1 |
162,518,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Prrc2c
|
UTSW |
1 |
162,538,050 (GRCm39) |
missense |
unknown |
|
|
R4981:Prrc2c
|
UTSW |
1 |
162,520,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Prrc2c
|
UTSW |
1 |
162,532,879 (GRCm39) |
unclassified |
probably benign |
|
|
R5119:Prrc2c
|
UTSW |
1 |
162,533,009 (GRCm39) |
unclassified |
probably benign |
|
|
R5127:Prrc2c
|
UTSW |
1 |
162,525,415 (GRCm39) |
missense |
unknown |
|
|
R5291:Prrc2c
|
UTSW |
1 |
162,533,151 (GRCm39) |
unclassified |
probably benign |
|
|
R5474:Prrc2c
|
UTSW |
1 |
162,537,213 (GRCm39) |
unclassified |
probably benign |
|
|
R5543:Prrc2c
|
UTSW |
1 |
162,501,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5579:Prrc2c
|
UTSW |
1 |
162,508,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5594:Prrc2c
|
UTSW |
1 |
162,526,600 (GRCm39) |
missense |
unknown |
|
|
R5620:Prrc2c
|
UTSW |
1 |
162,501,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:Prrc2c
|
UTSW |
1 |
162,501,725 (GRCm39) |
splice site |
probably null |
|
|
R6142:Prrc2c
|
UTSW |
1 |
162,537,956 (GRCm39) |
missense |
unknown |
|
|
R6199:Prrc2c
|
UTSW |
1 |
162,510,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Prrc2c
|
UTSW |
1 |
162,541,883 (GRCm39) |
missense |
probably benign |
|
|
R6504:Prrc2c
|
UTSW |
1 |
162,525,364 (GRCm39) |
missense |
unknown |
|
|
R6671:Prrc2c
|
UTSW |
1 |
162,525,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Prrc2c
|
UTSW |
1 |
162,536,670 (GRCm39) |
unclassified |
probably benign |
|
|
R6799:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6801:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6850:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6851:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6856:Prrc2c
|
UTSW |
1 |
162,509,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6882:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6884:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6897:Prrc2c
|
UTSW |
1 |
162,533,075 (GRCm39) |
unclassified |
probably benign |
|
|
R6934:Prrc2c
|
UTSW |
1 |
162,548,074 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6976:Prrc2c
|
UTSW |
1 |
162,520,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Prrc2c
|
UTSW |
1 |
162,508,850 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7165:Prrc2c
|
UTSW |
1 |
162,501,086 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7282:Prrc2c
|
UTSW |
1 |
162,507,543 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7915:Prrc2c
|
UTSW |
1 |
162,519,977 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8068:Prrc2c
|
UTSW |
1 |
162,536,630 (GRCm39) |
unclassified |
probably benign |
|
|
R8529:Prrc2c
|
UTSW |
1 |
162,536,663 (GRCm39) |
unclassified |
probably benign |
|
|
R8734:Prrc2c
|
UTSW |
1 |
162,507,081 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8735:Prrc2c
|
UTSW |
1 |
162,537,127 (GRCm39) |
missense |
unknown |
|
|
R8813:Prrc2c
|
UTSW |
1 |
162,532,812 (GRCm39) |
missense |
unknown |
|
|
R8946:Prrc2c
|
UTSW |
1 |
162,536,478 (GRCm39) |
unclassified |
probably benign |
|
|
R8975:Prrc2c
|
UTSW |
1 |
162,533,630 (GRCm39) |
missense |
unknown |
|
|
R9035:Prrc2c
|
UTSW |
1 |
162,503,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9185:Prrc2c
|
UTSW |
1 |
162,532,212 (GRCm39) |
missense |
unknown |
|
|
R9261:Prrc2c
|
UTSW |
1 |
162,505,622 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9287:Prrc2c
|
UTSW |
1 |
162,541,843 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9289:Prrc2c
|
UTSW |
1 |
162,507,130 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9466:Prrc2c
|
UTSW |
1 |
162,503,258 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9523:Prrc2c
|
UTSW |
1 |
162,525,298 (GRCm39) |
missense |
unknown |
|
|
R9542:Prrc2c
|
UTSW |
1 |
162,508,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9629:Prrc2c
|
UTSW |
1 |
162,519,959 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9744:Prrc2c
|
UTSW |
1 |
162,505,733 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9748:Prrc2c
|
UTSW |
1 |
162,535,435 (GRCm39) |
missense |
unknown |
|
|
X0020:Prrc2c
|
UTSW |
1 |
162,535,416 (GRCm39) |
unclassified |
probably benign |
|
|
X0039:Prrc2c
|
UTSW |
1 |
162,532,362 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGCTGAACATGGTAAGACTATTAAG -3'
(R):5'- AGACCTATCAGGCTGCTTGG -3'
Sequencing Primer
(F):5'- AAAGCCAGGTCTGTGTTCAC -3'
(R):5'- CTATCAGGCTGCTTGGTCCTTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation