Incidental Mutation 'R4684:Vmn2r88'
ID |
353552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R4684 (G1)
|
Quality Score |
120 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51650791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 168
(D168V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
AlphaFold |
L7N1W8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022438
AA Change: D168V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: D168V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159674
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161565
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
|
SMART Domains |
Protein: ENSMUSP00000124837 Gene: ENSMUSG00000000606
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,872 (GRCm39) |
V45A |
probably benign |
Het |
4921509C19Rik |
A |
G |
2: 151,313,791 (GRCm39) |
I629T |
unknown |
Het |
4933402N03Rik |
T |
C |
7: 130,740,413 (GRCm39) |
R268G |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,384,193 (GRCm39) |
R3882* |
probably null |
Het |
Adamts3 |
T |
G |
5: 89,850,866 (GRCm39) |
T558P |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,767,304 (GRCm39) |
N214S |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,850,866 (GRCm39) |
|
probably null |
Het |
Boc |
C |
T |
16: 44,320,743 (GRCm39) |
A306T |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,871,503 (GRCm39) |
F367S |
probably damaging |
Het |
Ccdc6 |
T |
C |
10: 70,025,086 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
G |
T |
2: 64,929,372 (GRCm39) |
S688R |
possibly damaging |
Het |
Cpxm2 |
G |
T |
7: 131,650,767 (GRCm39) |
P631Q |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,687,779 (GRCm39) |
V406A |
possibly damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,312,200 (GRCm39) |
Y118N |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,276,781 (GRCm39) |
|
probably benign |
Het |
Disp2 |
A |
G |
2: 118,623,237 (GRCm39) |
N1323S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,326,138 (GRCm39) |
Y42* |
probably null |
Het |
Eps8l1 |
C |
A |
7: 4,476,944 (GRCm39) |
P471Q |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,612,513 (GRCm39) |
L10R |
unknown |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,446 (GRCm39) |
I151K |
probably damaging |
Het |
Gga1 |
C |
A |
15: 78,769,509 (GRCm39) |
P161T |
probably damaging |
Het |
Gm9923 |
T |
A |
10: 72,145,306 (GRCm39) |
Y52* |
probably null |
Het |
Gucy2g |
A |
G |
19: 55,194,688 (GRCm39) |
F910L |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,750 (GRCm39) |
H241Q |
possibly damaging |
Het |
Helz |
T |
C |
11: 107,539,971 (GRCm39) |
V315A |
probably damaging |
Het |
Hk2 |
T |
C |
6: 82,716,629 (GRCm39) |
Y301C |
probably damaging |
Het |
Htt |
C |
T |
5: 35,010,109 (GRCm39) |
P1521S |
probably damaging |
Het |
Iah1 |
T |
C |
12: 21,366,434 (GRCm39) |
M1T |
probably null |
Het |
Ik |
T |
C |
18: 36,885,467 (GRCm39) |
S287P |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,185,906 (GRCm39) |
D32V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Klk14 |
A |
G |
7: 43,341,392 (GRCm39) |
I15V |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,806,391 (GRCm39) |
I603V |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,080,773 (GRCm39) |
I1267T |
possibly damaging |
Het |
Lrp1b |
A |
C |
2: 40,812,316 (GRCm39) |
L2430V |
probably benign |
Het |
Lrrn3 |
T |
G |
12: 41,504,243 (GRCm39) |
K25Q |
possibly damaging |
Het |
Lta4h |
T |
A |
10: 93,304,678 (GRCm39) |
N233K |
probably benign |
Het |
Mapk13 |
T |
C |
17: 28,989,023 (GRCm39) |
I53T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,666,430 (GRCm39) |
F123L |
probably damaging |
Het |
Myh4 |
G |
C |
11: 67,136,637 (GRCm39) |
D472H |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,585,574 (GRCm39) |
N121K |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,014,268 (GRCm39) |
T408M |
probably benign |
Het |
Oosp2 |
C |
T |
19: 11,627,017 (GRCm39) |
R102H |
probably damaging |
Het |
Or1j18 |
A |
G |
2: 36,624,686 (GRCm39) |
M118V |
probably damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 16,001,946 (GRCm39) |
I202L |
probably benign |
Het |
Pbld2 |
C |
A |
10: 62,893,476 (GRCm39) |
R271S |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,023,027 (GRCm39) |
T201I |
probably benign |
Het |
Pilra |
T |
C |
5: 137,833,777 (GRCm39) |
I96M |
probably damaging |
Het |
Pllp |
T |
A |
8: 95,403,906 (GRCm39) |
D47V |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,444,902 (GRCm39) |
S765G |
probably benign |
Het |
Prkca |
A |
T |
11: 107,852,434 (GRCm39) |
Y100N |
probably damaging |
Het |
Prkg1 |
T |
A |
19: 31,641,579 (GRCm39) |
K35* |
probably null |
Het |
Psmc2 |
A |
G |
5: 22,008,263 (GRCm39) |
D389G |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,951 (GRCm39) |
T2387A |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,005,192 (GRCm39) |
N914S |
probably damaging |
Het |
Ruvbl1 |
C |
A |
6: 88,468,581 (GRCm39) |
T367K |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,409,920 (GRCm39) |
R525H |
probably damaging |
Het |
Sec14l4 |
T |
C |
11: 3,985,200 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,587,862 (GRCm39) |
D751G |
probably damaging |
Het |
Setd3 |
T |
C |
12: 108,074,949 (GRCm39) |
D402G |
probably benign |
Het |
Slc15a2 |
T |
A |
16: 36,578,211 (GRCm39) |
K359N |
probably damaging |
Het |
Slc25a21 |
A |
G |
12: 57,243,721 (GRCm39) |
S2P |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,908,332 (GRCm39) |
H70Q |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,647,576 (GRCm39) |
I944V |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,895,557 (GRCm39) |
F1887S |
probably damaging |
Het |
Sptbn4 |
A |
T |
7: 27,066,160 (GRCm39) |
D649E |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,844 (GRCm39) |
E879G |
probably damaging |
Het |
Stx5a |
C |
A |
19: 8,720,725 (GRCm39) |
R121S |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,384,597 (GRCm39) |
L26P |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,144,255 (GRCm39) |
D649G |
probably benign |
Het |
Tfam |
A |
G |
10: 71,073,677 (GRCm39) |
S32P |
probably benign |
Het |
Tmt1b |
G |
T |
10: 128,796,571 (GRCm39) |
C79* |
probably null |
Het |
Trmt44 |
C |
T |
5: 35,715,387 (GRCm39) |
R642H |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,965,145 (GRCm39) |
A1547T |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,044,003 (GRCm39) |
V519A |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,217,088 (GRCm39) |
F1107L |
probably benign |
Het |
Usp5 |
A |
T |
6: 124,794,919 (GRCm39) |
V677E |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,643,307 (GRCm39) |
L605* |
probably null |
Het |
Utrn |
T |
C |
10: 12,620,984 (GRCm39) |
D229G |
probably damaging |
Het |
Uty |
A |
T |
Y: 1,176,502 (GRCm39) |
L178* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,646,324 (GRCm39) |
V1476A |
probably damaging |
Het |
Vps13b |
C |
A |
15: 35,879,967 (GRCm39) |
T3014K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,841,487 (GRCm39) |
H2506Y |
probably benign |
Het |
Vps37c |
T |
C |
19: 10,690,132 (GRCm39) |
V198A |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,259,290 (GRCm39) |
Y1621H |
probably benign |
Het |
Zfp251 |
T |
C |
15: 76,738,607 (GRCm39) |
D162G |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,078 (GRCm39) |
T1994A |
probably benign |
Het |
Zfp791 |
A |
G |
8: 85,837,559 (GRCm39) |
Y102H |
probably benign |
Het |
|
Other mutations in Vmn2r88 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Vmn2r88
|
APN |
14 |
51,650,713 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00990:Vmn2r88
|
APN |
14 |
51,650,517 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00990:Vmn2r88
|
APN |
14 |
51,650,582 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00990:Vmn2r88
|
APN |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02308:Vmn2r88
|
APN |
14 |
51,655,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02481:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
IGL02483:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
IGL03241:Vmn2r88
|
APN |
14 |
51,655,830 (GRCm39) |
missense |
probably benign |
0.03 |
R0052:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0070:Vmn2r88
|
UTSW |
14 |
51,651,597 (GRCm39) |
missense |
probably benign |
0.08 |
R0799:Vmn2r88
|
UTSW |
14 |
51,651,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0906:Vmn2r88
|
UTSW |
14 |
51,655,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1322:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R1352:Vmn2r88
|
UTSW |
14 |
51,656,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R1639:Vmn2r88
|
UTSW |
14 |
51,654,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R1780:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Vmn2r88
|
UTSW |
14 |
51,650,487 (GRCm39) |
splice site |
probably benign |
|
R1911:Vmn2r88
|
UTSW |
14 |
51,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Vmn2r88
|
UTSW |
14 |
51,655,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R2120:Vmn2r88
|
UTSW |
14 |
51,650,665 (GRCm39) |
missense |
probably benign |
0.00 |
R2126:Vmn2r88
|
UTSW |
14 |
51,651,264 (GRCm39) |
missense |
probably benign |
0.01 |
R2348:Vmn2r88
|
UTSW |
14 |
51,651,461 (GRCm39) |
missense |
probably benign |
0.00 |
R2881:Vmn2r88
|
UTSW |
14 |
51,656,146 (GRCm39) |
missense |
probably damaging |
0.97 |
R2884:Vmn2r88
|
UTSW |
14 |
51,651,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Vmn2r88
|
UTSW |
14 |
51,656,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R3933:Vmn2r88
|
UTSW |
14 |
51,651,435 (GRCm39) |
missense |
probably benign |
0.44 |
R3967:Vmn2r88
|
UTSW |
14 |
51,650,647 (GRCm39) |
missense |
probably benign |
0.06 |
R4091:Vmn2r88
|
UTSW |
14 |
51,652,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R4378:Vmn2r88
|
UTSW |
14 |
51,650,746 (GRCm39) |
nonsense |
probably null |
|
R4397:Vmn2r88
|
UTSW |
14 |
51,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R4418:Vmn2r88
|
UTSW |
14 |
51,655,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R4609:Vmn2r88
|
UTSW |
14 |
51,655,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R4647:Vmn2r88
|
UTSW |
14 |
51,656,250 (GRCm39) |
missense |
probably benign |
0.02 |
R4672:Vmn2r88
|
UTSW |
14 |
51,655,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R4686:Vmn2r88
|
UTSW |
14 |
51,650,796 (GRCm39) |
missense |
probably benign |
0.03 |
R4720:Vmn2r88
|
UTSW |
14 |
51,650,702 (GRCm39) |
missense |
probably benign |
0.01 |
R5046:Vmn2r88
|
UTSW |
14 |
51,650,638 (GRCm39) |
missense |
probably benign |
0.03 |
R5063:Vmn2r88
|
UTSW |
14 |
51,648,603 (GRCm39) |
missense |
probably damaging |
0.96 |
R5619:Vmn2r88
|
UTSW |
14 |
51,651,367 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R6020:Vmn2r88
|
UTSW |
14 |
51,655,606 (GRCm39) |
nonsense |
probably null |
|
R6103:Vmn2r88
|
UTSW |
14 |
51,652,826 (GRCm39) |
missense |
probably benign |
0.17 |
R6674:Vmn2r88
|
UTSW |
14 |
51,651,795 (GRCm39) |
missense |
probably benign |
0.01 |
R6799:Vmn2r88
|
UTSW |
14 |
51,651,426 (GRCm39) |
missense |
probably benign |
0.05 |
R7089:Vmn2r88
|
UTSW |
14 |
51,656,100 (GRCm39) |
missense |
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,651,253 (GRCm39) |
missense |
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,655,776 (GRCm39) |
missense |
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,651,712 (GRCm39) |
missense |
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,648,315 (GRCm39) |
splice site |
probably null |
|
R7611:Vmn2r88
|
UTSW |
14 |
51,651,454 (GRCm39) |
missense |
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,655,446 (GRCm39) |
missense |
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,655,906 (GRCm39) |
missense |
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
R7811:Vmn2r88
|
UTSW |
14 |
51,656,160 (GRCm39) |
missense |
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
R7957:Vmn2r88
|
UTSW |
14 |
51,650,589 (GRCm39) |
missense |
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,651,564 (GRCm39) |
missense |
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
R8448:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
R8483:Vmn2r88
|
UTSW |
14 |
51,650,530 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8783:Vmn2r88
|
UTSW |
14 |
51,651,523 (GRCm39) |
missense |
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,656,263 (GRCm39) |
missense |
probably damaging |
0.97 |
R8916:Vmn2r88
|
UTSW |
14 |
51,648,593 (GRCm39) |
missense |
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,655,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9004:Vmn2r88
|
UTSW |
14 |
51,650,624 (GRCm39) |
missense |
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,651,490 (GRCm39) |
missense |
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,648,329 (GRCm39) |
start gained |
probably benign |
|
R9311:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
R9382:Vmn2r88
|
UTSW |
14 |
51,656,197 (GRCm39) |
missense |
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,648,641 (GRCm39) |
missense |
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,651,189 (GRCm39) |
missense |
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,650,584 (GRCm39) |
missense |
probably benign |
|
X0024:Vmn2r88
|
UTSW |
14 |
51,651,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0025:Vmn2r88
|
UTSW |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,644 (GRCm39) |
missense |
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,503 (GRCm39) |
frame shift |
probably null |
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,650,658 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCATCATTGGTGGAAACTG -3'
(R):5'- CACAGTTTTACCTGTTTGCAGTG -3'
Sequencing Primer
(F):5'- CTCCATCATTGGTGGAAACTGTCATG -3'
(R):5'- CCTGTTTGCAGTGTACATCTACGAAG -3'
|
Posted On |
2015-10-21 |