Incidental Mutation 'R5244:Rprd2'
| ID |
401036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rprd2
|
| Ensembl Gene |
ENSMUSG00000028106 |
| Gene Name |
regulation of nuclear pre-mRNA domain containing 2 |
| Synonyms |
2810036A19Rik, 6720469I21Rik, 4930535B03Rik |
| MMRRC Submission |
042815-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R5244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95697494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 85
(I85L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197449]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090791
AA Change: I85L
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: I85L
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
26 |
146 |
3.6e-29 |
SMART |
|
Pfam:CREPT
|
210 |
351 |
9.3e-11 |
PFAM |
|
low complexity region
|
431 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1195 |
1208 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1272 |
1295 |
N/A |
INTRINSIC |
|
low complexity region
|
1300 |
1323 |
N/A |
INTRINSIC |
|
low complexity region
|
1373 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1446 |
1467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197449
AA Change: I85L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: I85L
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
26 |
146 |
3.2e-32 |
SMART |
|
coiled coil region
|
288 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198741
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200164
AA Change: I45L
|
| Meta Mutation Damage Score |
0.4268 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
| Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
| Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
| Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
| Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
| Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
| Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
| Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
| Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
| Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
| Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,719,062 (GRCm39) |
A609V |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
| Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,775 (GRCm39) |
V422A |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
| Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
| Trim37 |
C |
T |
11: 87,109,083 (GRCm39) |
H937Y |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,735,607 (GRCm39) |
V1005A |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
| Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,788 (GRCm39) |
S595P |
probably damaging |
Het |
| Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
| Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
| Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
possibly damaging |
Het |
|
| Other mutations in Rprd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Rprd2
|
APN |
3 |
95,672,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00773:Rprd2
|
APN |
3 |
95,672,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00792:Rprd2
|
APN |
3 |
95,692,416 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01022:Rprd2
|
APN |
3 |
95,671,066 (GRCm39) |
nonsense |
probably null |
|
|
IGL01121:Rprd2
|
APN |
3 |
95,683,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01299:Rprd2
|
APN |
3 |
95,683,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Rprd2
|
APN |
3 |
95,672,631 (GRCm39) |
missense |
probably benign |
|
|
IGL01414:Rprd2
|
APN |
3 |
95,672,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02283:Rprd2
|
APN |
3 |
95,672,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02336:Rprd2
|
APN |
3 |
95,694,622 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0131:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0574:Rprd2
|
UTSW |
3 |
95,681,669 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0718:Rprd2
|
UTSW |
3 |
95,673,699 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0847:Rprd2
|
UTSW |
3 |
95,672,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0942:Rprd2
|
UTSW |
3 |
95,672,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0943:Rprd2
|
UTSW |
3 |
95,691,559 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0980:Rprd2
|
UTSW |
3 |
95,673,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Rprd2
|
UTSW |
3 |
95,725,888 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1542:Rprd2
|
UTSW |
3 |
95,672,988 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1577:Rprd2
|
UTSW |
3 |
95,672,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Rprd2
|
UTSW |
3 |
95,726,051 (GRCm39) |
unclassified |
probably benign |
|
|
R1640:Rprd2
|
UTSW |
3 |
95,671,059 (GRCm39) |
unclassified |
probably benign |
|
|
R1670:Rprd2
|
UTSW |
3 |
95,672,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2430:Rprd2
|
UTSW |
3 |
95,672,107 (GRCm39) |
nonsense |
probably null |
|
|
R2966:Rprd2
|
UTSW |
3 |
95,673,745 (GRCm39) |
splice site |
probably null |
|
|
R3612:Rprd2
|
UTSW |
3 |
95,671,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3712:Rprd2
|
UTSW |
3 |
95,671,872 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3890:Rprd2
|
UTSW |
3 |
95,672,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Rprd2
|
UTSW |
3 |
95,694,686 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4783:Rprd2
|
UTSW |
3 |
95,681,645 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4832:Rprd2
|
UTSW |
3 |
95,681,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Rprd2
|
UTSW |
3 |
95,671,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Rprd2
|
UTSW |
3 |
95,673,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Rprd2
|
UTSW |
3 |
95,672,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5134:Rprd2
|
UTSW |
3 |
95,672,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5314:Rprd2
|
UTSW |
3 |
95,671,401 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5579:Rprd2
|
UTSW |
3 |
95,692,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Rprd2
|
UTSW |
3 |
95,672,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6016:Rprd2
|
UTSW |
3 |
95,694,685 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6332:Rprd2
|
UTSW |
3 |
95,687,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6403:Rprd2
|
UTSW |
3 |
95,673,399 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6415:Rprd2
|
UTSW |
3 |
95,681,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7064:Rprd2
|
UTSW |
3 |
95,672,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Rprd2
|
UTSW |
3 |
95,684,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Rprd2
|
UTSW |
3 |
95,673,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Rprd2
|
UTSW |
3 |
95,683,899 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8716:Rprd2
|
UTSW |
3 |
95,684,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Rprd2
|
UTSW |
3 |
95,691,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Rprd2
|
UTSW |
3 |
95,671,367 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8922:Rprd2
|
UTSW |
3 |
95,687,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9030:Rprd2
|
UTSW |
3 |
95,691,622 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9623:Rprd2
|
UTSW |
3 |
95,679,505 (GRCm39) |
missense |
probably benign |
0.30 |
|
RF034:Rprd2
|
UTSW |
3 |
95,673,632 (GRCm39) |
small deletion |
probably benign |
|
|
RF056:Rprd2
|
UTSW |
3 |
95,673,631 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGTTTCACCTTCCCCGC -3'
(R):5'- TCTACTTGGAAGAGTACCTTGAACAC -3'
Sequencing Primer
(F):5'- GCTCCCCAGATGCTGAAATTAAAAAC -3'
(R):5'- TGCTCAGGTTGGAAGCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation