Incidental Mutation 'R6799:Vmn2r88'
ID |
533231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
MMRRC Submission |
044912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R6799 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 51651426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 255
(Q255K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
AlphaFold |
L7N1W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: Q255K
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: Q255K
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
AA Change: Q247K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606 AA Change: Q247K
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 |
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 |
|
SMART Domains |
Protein: ENSMUSP00000124837 Gene: ENSMUSG00000000606 AA Change: Q222K
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: Q247K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
T |
5: 144,981,624 (GRCm39) |
Y153F |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,727,474 (GRCm39) |
H364R |
probably damaging |
Het |
Anapc1 |
C |
G |
2: 128,501,657 (GRCm39) |
R795T |
probably null |
Het |
Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
Arhgap26 |
A |
G |
18: 39,232,660 (GRCm39) |
N96D |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,598,457 (GRCm39) |
E191* |
probably null |
Het |
Cc2d2b |
A |
G |
19: 40,779,652 (GRCm39) |
E697G |
possibly damaging |
Het |
Chaf1a |
A |
T |
17: 56,354,059 (GRCm39) |
I110F |
unknown |
Het |
Clca4b |
A |
T |
3: 144,621,388 (GRCm39) |
|
probably null |
Het |
Dagla |
C |
A |
19: 10,234,214 (GRCm39) |
V366L |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,900,049 (GRCm39) |
N878S |
probably benign |
Het |
Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
Dhx38 |
A |
G |
8: 110,279,834 (GRCm39) |
L952P |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
Dtymk |
A |
G |
1: 93,726,214 (GRCm39) |
L15P |
probably benign |
Het |
E330034G19Rik |
A |
G |
14: 24,346,178 (GRCm39) |
M30V |
probably benign |
Het |
Egfr |
G |
A |
11: 16,846,952 (GRCm39) |
C783Y |
probably damaging |
Het |
Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
Fbxw24 |
T |
A |
9: 109,453,998 (GRCm39) |
R49S |
probably damaging |
Het |
Fcsk |
T |
C |
8: 111,620,050 (GRCm39) |
M276V |
probably benign |
Het |
Gm8797 |
A |
T |
3: 5,816,027 (GRCm39) |
T22S |
probably benign |
Het |
Hao1 |
T |
C |
2: 134,372,685 (GRCm39) |
S108G |
probably damaging |
Het |
Hdac4 |
C |
A |
1: 91,929,935 (GRCm39) |
A184S |
probably damaging |
Het |
Hikeshi |
T |
A |
7: 89,579,553 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
T |
10: 14,004,757 (GRCm39) |
R452C |
probably benign |
Het |
Hsdl1 |
T |
C |
8: 120,293,169 (GRCm39) |
S68G |
probably benign |
Het |
Kctd20 |
T |
C |
17: 29,182,351 (GRCm39) |
|
probably null |
Het |
Klf11 |
T |
C |
12: 24,705,638 (GRCm39) |
V364A |
possibly damaging |
Het |
Kpna6 |
A |
G |
4: 129,551,247 (GRCm39) |
L86P |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lpin1 |
T |
A |
12: 16,611,045 (GRCm39) |
N516Y |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,314,248 (GRCm39) |
Y2161C |
probably damaging |
Het |
Lrrtm3 |
A |
T |
10: 63,923,630 (GRCm39) |
C512* |
probably null |
Het |
Mfsd1 |
T |
C |
3: 67,507,314 (GRCm39) |
I405T |
probably damaging |
Het |
Msc |
T |
G |
1: 14,825,491 (GRCm39) |
D161A |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,800,841 (GRCm39) |
I755V |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,419,911 (GRCm39) |
T803A |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,795,346 (GRCm39) |
I210V |
probably benign |
Het |
Npat |
A |
T |
9: 53,462,930 (GRCm39) |
H108L |
probably benign |
Het |
Nt5dc1 |
A |
G |
10: 34,189,703 (GRCm39) |
I329T |
possibly damaging |
Het |
Or10v5 |
T |
A |
19: 11,806,178 (GRCm39) |
I71F |
possibly damaging |
Het |
Or51q1c |
T |
A |
7: 103,648,006 (GRCm39) |
|
probably null |
Het |
Or8b35 |
T |
C |
9: 37,904,478 (GRCm39) |
L230P |
possibly damaging |
Het |
Parm1 |
C |
T |
5: 91,742,070 (GRCm39) |
T146I |
possibly damaging |
Het |
Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
Pias1 |
G |
T |
9: 62,789,334 (GRCm39) |
S624R |
probably benign |
Het |
Ppif |
A |
G |
14: 25,696,488 (GRCm39) |
H95R |
probably damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Psg20 |
A |
G |
7: 18,418,345 (GRCm39) |
Y141H |
probably benign |
Het |
Pygm |
A |
T |
19: 6,448,157 (GRCm39) |
Y733F |
probably damaging |
Het |
Rcc1l |
A |
T |
5: 134,205,552 (GRCm39) |
M1K |
probably null |
Het |
Rfpl4b |
T |
C |
10: 38,697,341 (GRCm39) |
K87E |
possibly damaging |
Het |
Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
Scn5a |
A |
C |
9: 119,324,688 (GRCm39) |
I1380S |
possibly damaging |
Het |
Sel1l |
A |
G |
12: 91,781,742 (GRCm39) |
|
probably null |
Het |
Slc18a1 |
T |
A |
8: 69,493,633 (GRCm39) |
I400L |
probably benign |
Het |
Slc30a3 |
A |
G |
5: 31,246,958 (GRCm39) |
S73P |
probably damaging |
Het |
Slc9a5 |
A |
T |
8: 106,090,600 (GRCm39) |
N685I |
possibly damaging |
Het |
Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
Trdmt1 |
A |
G |
2: 13,520,824 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
G |
T |
7: 4,136,221 (GRCm39) |
|
probably null |
Het |
Tyms |
A |
T |
5: 30,266,069 (GRCm39) |
D283E |
probably benign |
Het |
Vmn2r110 |
T |
A |
17: 20,803,798 (GRCm39) |
Y259F |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,659,555 (GRCm39) |
P100S |
probably damaging |
Het |
Zfp128 |
A |
T |
7: 12,624,826 (GRCm39) |
H398L |
possibly damaging |
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 |
R4684:Vmn2r88
|
UTSW |
14 |
51,650,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- ACACACATTTGTCCCATGGC -3'
(R):5'- TGTGCAAAAGTAATAGTCCCATGG -3'
Sequencing Primer
(F):5'- CATGGCATTGTCTCCTTGATG -3'
(R):5'- TCCCATGGAAGAGATTAAGGGTG -3'
|
Posted On |
2018-09-12 |