Incidental Mutation 'R9748:Prrc2c'
| ID |
732284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prrc2c
|
| Ensembl Gene |
ENSMUSG00000040225 |
| Gene Name |
proline-rich coiled-coil 2C |
| Synonyms |
9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R9748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162499354-162568125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162535435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 775
(S775P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028016]
[ENSMUST00000182149]
[ENSMUST00000182393]
[ENSMUST00000182593]
[ENSMUST00000182660]
[ENSMUST00000183011]
[ENSMUST00000183223]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000028016
AA Change: S773P
|
| SMART Domains |
Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: S773P
| 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 |
unknown
Transcript: ENSMUST00000182149
AA Change: S775P
|
| SMART Domains |
Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: S775P
| 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 benign
Transcript: ENSMUST00000182393
|
| SMART Domains |
Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225
| 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 |
unknown
Transcript: ENSMUST00000182593
AA Change: S773P
|
| SMART Domains |
Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: S773P
| 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 |
unknown
Transcript: ENSMUST00000182660
AA Change: S775P
|
| SMART Domains |
Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: S775P
| 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 benign
Transcript: ENSMUST00000183011
|
| SMART Domains |
Protein: ENSMUSP00000138609
Gene: ENSMUSG00000040225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
160 |
3.2e-64 |
PFAM |
|
low complexity region
|
400 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
443 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183223
|
| SMART Domains |
Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,301,068 (GRCm39) |
T221A |
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,310,628 (GRCm39) |
V962I |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,488,640 (GRCm39) |
I931F |
probably damaging |
Het |
| Anxa2r2 |
T |
A |
13: 120,488,200 (GRCm39) |
E116D |
possibly damaging |
Het |
| Arih1 |
T |
G |
9: 59,300,581 (GRCm39) |
D555A |
possibly damaging |
Het |
| Arsg |
A |
G |
11: 109,381,452 (GRCm39) |
D65G |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,364,407 (GRCm39) |
T567I |
probably damaging |
Het |
| Camkk2 |
G |
C |
5: 122,872,182 (GRCm39) |
R575G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,095,824 (GRCm39) |
S1758Y |
possibly damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,831,461 (GRCm39) |
L494M |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,123,405 (GRCm39) |
K317E |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,090,687 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
G |
3: 20,043,335 (GRCm39) |
V1041G |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,151,926 (GRCm39) |
V150A |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,269,216 (GRCm39) |
E352V |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,290 (GRCm39) |
H1253L |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,672,761 (GRCm39) |
S811P |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,007,022 (GRCm39) |
Y867* |
probably null |
Het |
| Eif2ak1 |
A |
G |
5: 143,819,031 (GRCm39) |
T231A |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,247,730 (GRCm39) |
C256S |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,090,241 (GRCm39) |
N1140S |
possibly damaging |
Het |
| Etnppl |
A |
T |
3: 130,414,002 (GRCm39) |
M34L |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,364,469 (GRCm39) |
C549W |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,323 (GRCm39) |
A811V |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,692,980 (GRCm39) |
S198N |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,929 (GRCm39) |
H589L |
unknown |
Het |
| Gm8108 |
G |
T |
14: 4,110,527 (GRCm38) |
|
probably benign |
Het |
| Hcn4 |
C |
T |
9: 58,730,996 (GRCm39) |
R68W |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,926,336 (GRCm39) |
L38P |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,349,496 (GRCm39) |
T351A |
probably benign |
Het |
| Ildr2 |
T |
C |
1: 166,096,889 (GRCm39) |
L36P |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,324,876 (GRCm39) |
C60Y |
probably damaging |
Het |
| Jrk |
A |
G |
15: 74,579,225 (GRCm39) |
L20P |
probably damaging |
Het |
| Kif5c |
C |
T |
2: 49,584,859 (GRCm39) |
A194V |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,316,116 (GRCm39) |
L745F |
probably damaging |
Het |
| Ly9 |
A |
T |
1: 171,428,722 (GRCm39) |
D299E |
possibly damaging |
Het |
| Mfsd1 |
C |
T |
3: 67,499,910 (GRCm39) |
T185I |
possibly damaging |
Het |
| Mprip |
A |
G |
11: 59,656,348 (GRCm39) |
Y808C |
probably damaging |
Het |
| Mrps2 |
C |
A |
2: 28,359,594 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,024,398 (GRCm39) |
D438V |
probably damaging |
Het |
| Mturn |
A |
T |
6: 54,665,989 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
| Nckap5 |
G |
A |
1: 125,953,939 (GRCm39) |
P871L |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,421,631 (GRCm39) |
I401F |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,709,114 (GRCm39) |
V723M |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,506,667 (GRCm39) |
S478P |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,123,538 (GRCm39) |
Y70C |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,005,088 (GRCm39) |
N179Y |
probably damaging |
Het |
| Or1o11 |
T |
G |
17: 37,756,595 (GRCm39) |
V61G |
probably benign |
Het |
| Or8b39 |
T |
A |
9: 37,996,353 (GRCm39) |
S74T |
probably benign |
Het |
| Otof |
T |
C |
5: 30,540,998 (GRCm39) |
D847G |
probably damaging |
Het |
| Pak1 |
C |
A |
7: 97,547,842 (GRCm39) |
D331E |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,555 (GRCm39) |
W1374R |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,704,871 (GRCm39) |
T355K |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,892 (GRCm39) |
*492W |
probably null |
Het |
| Prkcd |
A |
T |
14: 30,320,800 (GRCm39) |
F607I |
possibly damaging |
Het |
| Prss16 |
G |
T |
13: 22,192,504 (GRCm39) |
H154N |
possibly damaging |
Het |
| Psme2b |
T |
C |
11: 48,836,779 (GRCm39) |
D56G |
possibly damaging |
Het |
| Rapsn |
C |
T |
2: 90,875,823 (GRCm39) |
P400L |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,761 (GRCm39) |
D698G |
possibly damaging |
Het |
| Rragc |
T |
C |
4: 123,818,658 (GRCm39) |
V291A |
possibly damaging |
Het |
| Rras2 |
A |
G |
7: 113,716,629 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
A |
C |
10: 89,476,794 (GRCm39) |
M777R |
probably benign |
Het |
| Serhl |
G |
T |
15: 82,998,597 (GRCm39) |
V235L |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,874 (GRCm39) |
Y536C |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,093 (GRCm39) |
M570V |
probably benign |
Het |
| Slamf8 |
C |
T |
1: 172,411,800 (GRCm39) |
V232M |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,929,941 (GRCm39) |
L143Q |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,949,670 (GRCm39) |
D123E |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,083,155 (GRCm39) |
H219Y |
probably damaging |
Het |
| Supt6 |
C |
A |
11: 78,108,767 (GRCm39) |
R1178L |
probably damaging |
Het |
| Sycp2 |
T |
G |
2: 178,025,304 (GRCm39) |
E379D |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,719,008 (GRCm39) |
M2655V |
possibly damaging |
Het |
| Tiam2 |
C |
T |
17: 3,561,440 (GRCm39) |
T1335I |
probably benign |
Het |
| Tmem154 |
T |
A |
3: 84,573,693 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Trpv3 |
A |
T |
11: 73,174,499 (GRCm39) |
I289F |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,758 (GRCm39) |
L365P |
probably damaging |
Het |
| Tulp4 |
T |
C |
17: 6,291,480 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,142,072 (GRCm39) |
S163P |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,713,533 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,463,989 (GRCm39) |
M767T |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,619,533 (GRCm39) |
V329A |
unknown |
Het |
| Wdr62 |
T |
A |
7: 29,953,466 (GRCm39) |
M635L |
possibly damaging |
Het |
| Wee1 |
G |
T |
7: 109,721,722 (GRCm39) |
E56* |
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,055,231 (GRCm39) |
G193S |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,637,008 (GRCm39) |
Q1426L |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,634,751 (GRCm39) |
Y319C |
probably 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 |
|
R7467:Prrc2c
|
UTSW |
1 |
162,504,932 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
|
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'- TGAAGCACATTTATGGCTTGG -3'
(R):5'- AGTGAACTCCTATTGTATGTCCCC -3'
Sequencing Primer
(F):5'- GGCAAACACCTTTGTCCATGAGTG -3'
(R):5'- ATGTCCCCTCTTAATTTCTTAGCAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation