Incidental Mutation 'R7496:Rprd2'
| ID |
581061 |
| 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 |
045569-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.745)
|
| Stock # |
R7496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95673087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 772
(L772Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090791
AA Change: L772Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: L772Q
| 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 damaging
Transcript: ENSMUST00000200164
AA Change: L688Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
| Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
| Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
| Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
| Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
| Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
| Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
| Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
| Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
| Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
| Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
| Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
| Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
probably 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 |
|
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 |
|
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'- AAGAGCTTTTCCTGTGAAGAGTC -3'
(R):5'- TCCCGATCCTAAGCAGCTTG -3'
Sequencing Primer
(F):5'- CCTGTGAAGAGTCCATCAGTG -3'
(R):5'- CTAAGCAGCTTGGGATCCAGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation