Incidental Mutation 'R6415:Rprd2'
| ID |
517849 |
| 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 |
044557-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.745)
|
| Stock # |
R6415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95681531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 436
(A436V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197449]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090791
AA Change: A454V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: A454V
| 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 |
probably benign
Transcript: ENSMUST00000197449
AA Change: A436V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: A436V
| 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: ENSMUST00000198740
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200164
AA Change: A370V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200428
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,881,296 (GRCm39) |
T482M |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,468,498 (GRCm39) |
Y513H |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,222,540 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,759 (GRCm39) |
D326G |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,354,243 (GRCm39) |
I224T |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,309,612 (GRCm39) |
I402M |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,398 (GRCm39) |
C73S |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,913,739 (GRCm39) |
R880H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,830,986 (GRCm39) |
N218D |
unknown |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,831,365 (GRCm39) |
F483L |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,436,939 (GRCm39) |
D963G |
probably benign |
Het |
| Dhx8 |
G |
T |
11: 101,628,513 (GRCm39) |
A142S |
unknown |
Het |
| Dock7 |
C |
T |
4: 98,880,685 (GRCm39) |
R926Q |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,594,975 (GRCm39) |
Q693* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,117,024 (GRCm39) |
C1234Y |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,089,102 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
T |
C |
15: 58,314,766 (GRCm39) |
L549P |
probably damaging |
Het |
| Fxyd2 |
T |
A |
9: 45,314,592 (GRCm39) |
Y5N |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gpr182 |
T |
A |
10: 127,586,375 (GRCm39) |
D192V |
possibly damaging |
Het |
| Gps1 |
T |
C |
11: 120,678,548 (GRCm39) |
V286A |
possibly damaging |
Het |
| Grk1 |
A |
G |
8: 13,463,127 (GRCm39) |
Y383C |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,656 (GRCm39) |
Y122H |
probably benign |
Het |
| Hic1 |
G |
A |
11: 75,057,143 (GRCm39) |
P582L |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,607,279 (GRCm39) |
F328L |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,877,927 (GRCm39) |
K301E |
possibly damaging |
Het |
| Lrp3 |
A |
T |
7: 34,903,593 (GRCm39) |
V251E |
probably benign |
Het |
| Mapt |
G |
A |
11: 104,189,824 (GRCm39) |
G265S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,925,956 (GRCm39) |
D6245E |
probably damaging |
Het |
| Or10al2 |
G |
T |
17: 37,983,448 (GRCm39) |
C178F |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,342,617 (GRCm39) |
S7G |
probably damaging |
Het |
| Or4b1c |
T |
A |
2: 90,126,381 (GRCm39) |
I275F |
probably damaging |
Het |
| Or4c10b |
T |
C |
2: 89,711,206 (GRCm39) |
L12P |
probably damaging |
Het |
| Or6c207 |
T |
C |
10: 129,104,890 (GRCm39) |
T101A |
probably benign |
Het |
| Or7e165 |
T |
A |
9: 19,695,044 (GRCm39) |
I205N |
probably damaging |
Het |
| Or7g19 |
T |
C |
9: 18,856,415 (GRCm39) |
L157P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,241,904 (GRCm38) |
H288Q |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,278 (GRCm39) |
M1128I |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,127,614 (GRCm39) |
Y699H |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,459 (GRCm39) |
I323N |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,264 (GRCm39) |
V1216A |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,620,176 (GRCm39) |
|
probably benign |
Het |
| Prelp |
A |
T |
1: 133,840,516 (GRCm39) |
I322N |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,395 (GRCm39) |
I250N |
probably damaging |
Het |
| Prss27 |
T |
A |
17: 24,261,882 (GRCm39) |
C63* |
probably null |
Het |
| Rab38 |
G |
A |
7: 88,079,748 (GRCm39) |
A47T |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,442,808 (GRCm39) |
N1618I |
probably damaging |
Het |
| Scp2 |
T |
G |
4: 107,962,337 (GRCm39) |
S63R |
probably benign |
Het |
| Sftpb |
T |
G |
6: 72,281,633 (GRCm39) |
W9G |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,780,415 (GRCm39) |
L125* |
probably null |
Het |
| Sptlc1 |
T |
C |
13: 53,505,728 (GRCm39) |
|
probably null |
Het |
| Sub1 |
T |
A |
15: 11,986,560 (GRCm39) |
M96L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,667,458 (GRCm39) |
V1233A |
probably benign |
Het |
| Tmem140 |
A |
T |
6: 34,849,658 (GRCm39) |
D58V |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,083,811 (GRCm39) |
Y91H |
probably benign |
Het |
| Trap1 |
C |
T |
16: 3,861,856 (GRCm39) |
R636H |
possibly damaging |
Het |
| Ttc14 |
A |
G |
3: 33,857,724 (GRCm39) |
H275R |
possibly damaging |
Het |
| Tut7 |
T |
A |
13: 59,964,110 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,391,869 (GRCm39) |
W494R |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,921,438 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,975,510 (GRCm39) |
I380N |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,838,063 (GRCm39) |
F798L |
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 |
|
R5244:Rprd2
|
UTSW |
3 |
95,697,494 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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'- AAACCCCACTTTGCTGGTTC -3'
(R):5'- AGAACTTTGTGCCCTCAAATTAGG -3'
Sequencing Primer
(F):5'- CCACTTTGCTGGTTCAATGAAAC -3'
(R):5'- AAACCTGCTGTCTCCACT -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation