Incidental Mutation 'R3712:Rprd2'
| ID |
259649 |
| 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 |
040705-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.745)
|
| Stock # |
R3712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95671872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1177
(L1177P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197501]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090791
AA Change: L1177P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: L1177P
| 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: ENSMUST00000197501
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200164
AA Change: L1093P
|
| Meta Mutation Damage Score |
0.1008 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
C |
A |
16: 88,424,411 (GRCm39) |
V27F |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,473,134 (GRCm39) |
G44D |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,422,895 (GRCm39) |
E1057V |
possibly damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,331,050 (GRCm39) |
D588V |
probably damaging |
Het |
| Bag2 |
T |
A |
1: 33,785,997 (GRCm39) |
E108D |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,463,375 (GRCm39) |
V183I |
probably benign |
Het |
| Ccdc83 |
A |
G |
7: 89,885,563 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
G |
A |
1: 64,753,827 (GRCm39) |
E137K |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,308,155 (GRCm39) |
T1849A |
probably benign |
Het |
| Cep192 |
C |
A |
18: 67,953,400 (GRCm39) |
D472E |
probably benign |
Het |
| Cep57l1 |
A |
G |
10: 41,619,110 (GRCm39) |
Y86H |
probably damaging |
Het |
| Cep95 |
G |
T |
11: 106,702,112 (GRCm39) |
E370* |
probably null |
Het |
| Cldn10 |
A |
G |
14: 119,092,522 (GRCm39) |
T41A |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,764,157 (GRCm39) |
Y426N |
probably benign |
Het |
| Dipk1b |
T |
C |
2: 26,522,650 (GRCm39) |
L33S |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,166,374 (GRCm39) |
V89A |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,361,654 (GRCm39) |
S125P |
probably damaging |
Het |
| Fbxo44 |
A |
T |
4: 148,240,461 (GRCm39) |
W256R |
probably benign |
Het |
| Gnl2 |
T |
C |
4: 124,940,067 (GRCm39) |
V313A |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,756,513 (GRCm39) |
R244G |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,844,931 (GRCm39) |
W134L |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,371,448 (GRCm39) |
T286A |
probably damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,644,798 (GRCm39) |
V529A |
possibly damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp8 |
G |
T |
4: 107,705,499 (GRCm39) |
R209L |
probably benign |
Het |
| Mgll |
T |
C |
6: 88,741,570 (GRCm39) |
|
probably benign |
Het |
| Mix23 |
T |
C |
16: 35,901,775 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or3a1d |
A |
T |
11: 74,238,023 (GRCm39) |
I129N |
probably damaging |
Het |
| Or5p66 |
A |
T |
7: 107,885,663 (GRCm39) |
Y223* |
probably null |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,461,218 (GRCm39) |
V526A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 62,383,137 (GRCm39) |
S744P |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,115,684 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,343,565 (GRCm39) |
D347G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Rpl7a-ps10 |
A |
G |
9: 97,061,926 (GRCm39) |
E232G |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,601,959 (GRCm39) |
L71* |
probably null |
Het |
| Sbspon |
A |
G |
1: 15,962,669 (GRCm39) |
C70R |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Son |
A |
G |
16: 91,453,614 (GRCm39) |
D787G |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,254,833 (GRCm39) |
S972N |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Srp14 |
A |
C |
2: 118,309,440 (GRCm39) |
L58V |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,162 (GRCm39) |
I129T |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,169,780 (GRCm39) |
K117R |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,798,345 (GRCm39) |
I384N |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,637 (GRCm39) |
I41K |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,419 (GRCm39) |
Y68* |
probably null |
Het |
| Zpld1 |
A |
T |
16: 55,046,799 (GRCm39) |
L390* |
probably null |
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 |
|
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 |
|
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'- ACCATGATCCTTAGGAGGGG -3'
(R):5'- TAACGCAGCTAATAGGAGGATGTC -3'
Sequencing Primer
(F):5'- ATCCTTAGGAGGGGCAGGTG -3'
(R):5'- TCAGGGGAGCCGATAAAGACTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation