Incidental Mutation 'R9030:Rprd2'
| ID |
686981 |
| 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 |
068859-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R9030 (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 G
at 95691622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 218
(Y218H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197449]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090791
AA Change: Y218H
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: Y218H
| 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: Y200H
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: Y200H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
A |
C |
2: 158,474,321 (GRCm39) |
I375L |
probably benign |
Het |
| Adgrl2 |
G |
T |
3: 148,544,761 (GRCm39) |
T778K |
possibly damaging |
Het |
| Ccn3 |
A |
T |
15: 54,615,687 (GRCm39) |
Y284F |
probably damaging |
Het |
| Cdc73 |
A |
T |
1: 143,485,234 (GRCm39) |
L478H |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,843 (GRCm39) |
H529Q |
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Ddit4 |
A |
T |
10: 59,786,515 (GRCm39) |
L178Q |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,237 (GRCm39) |
N315K |
possibly damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,549 (GRCm39) |
D874G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,352,673 (GRCm39) |
Y184N |
probably damaging |
Het |
| Dynlt1c |
A |
G |
17: 6,870,916 (GRCm39) |
I20V |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,577,549 (GRCm39) |
H291R |
possibly damaging |
Het |
| Epx |
A |
T |
11: 87,763,470 (GRCm39) |
M250K |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,502,594 (GRCm39) |
Y1365F |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,789,522 (GRCm39) |
T227A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,243,798 (GRCm39) |
I115T |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,270 (GRCm39) |
E216G |
probably benign |
Het |
| Gm94 |
A |
T |
18: 43,914,326 (GRCm39) |
F77L |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,526,185 (GRCm39) |
H139Q |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,827 (GRCm39) |
T852A |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,983,010 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,692,870 (GRCm39) |
I268L |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lin52 |
T |
A |
12: 84,592,681 (GRCm39) |
S87T |
|
Het |
| Lrrc74b |
A |
G |
16: 17,367,640 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,144,499 (GRCm39) |
K136R |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,325,457 (GRCm39) |
N738K |
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,129,573 (GRCm39) |
Q880L |
possibly damaging |
Het |
| Or2y11 |
T |
A |
11: 49,442,808 (GRCm39) |
V78E |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,718 (GRCm39) |
I215N |
possibly damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| P4htm |
G |
A |
9: 108,474,627 (GRCm39) |
P46L |
probably benign |
Het |
| Pcsk4 |
A |
T |
10: 80,164,858 (GRCm39) |
H69Q |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,385 (GRCm39) |
S1917P |
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 83,998,087 (GRCm39) |
V385A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,426,192 (GRCm39) |
F514S |
probably damaging |
Het |
| Rims2 |
C |
T |
15: 39,339,873 (GRCm39) |
R856C |
probably damaging |
Het |
| Sat2 |
T |
A |
11: 69,513,069 (GRCm39) |
|
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,426,336 (GRCm39) |
R186C |
|
Het |
| Snrnp200 |
A |
G |
2: 127,053,466 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
T |
2: 122,629,514 (GRCm39) |
D124V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,312,062 (GRCm39) |
H191R |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,519,320 (GRCm39) |
|
probably benign |
Het |
| Svs4 |
T |
C |
2: 164,119,058 (GRCm39) |
M93V |
unknown |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,241 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tex10 |
A |
G |
4: 48,452,056 (GRCm39) |
F690S |
probably damaging |
Het |
| Tex30 |
A |
G |
1: 44,130,356 (GRCm39) |
M88T |
|
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,837 (GRCm39) |
T534A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,711,818 (GRCm39) |
E2647G |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,145,696 (GRCm39) |
R62W |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,312 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,603,864 (GRCm39) |
K30E |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
| Wdr37 |
C |
T |
13: 8,885,424 (GRCm39) |
V340M |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,565 (GRCm39) |
F234L |
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 |
|
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 |
|
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'- GGTTCTGAAAATTGTTTCACCCTACC -3'
(R):5'- AGCTAAGAGTATGGTTTGACATGAG -3'
Sequencing Primer
(F):5'- CTGTGGGTGATTCATTCCAGAAACAC -3'
(R):5'- GGGGGGAGAATATGTAATCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation