Incidental Mutation 'R8783:Vmn2r88'
| ID |
670437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
068631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51651523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 279
(E279V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: E287V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: E287V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: E279V
| 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: E254V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: E279V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
T |
A |
13: 54,700,520 (GRCm39) |
M273L |
probably benign |
Het |
| Aars1 |
A |
G |
8: 111,776,515 (GRCm39) |
N657S |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,837 (GRCm39) |
N3374Y |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,846,455 (GRCm39) |
E180G |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,727,967 (GRCm39) |
|
probably benign |
Het |
| Armc5 |
G |
A |
7: 127,837,425 (GRCm39) |
A43T |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,840,152 (GRCm39) |
D142V |
probably damaging |
Het |
| B4galnt4 |
A |
T |
7: 140,643,759 (GRCm39) |
K54M |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,883,562 (GRCm39) |
E251G |
probably damaging |
Het |
| Bptf |
A |
G |
11: 107,022,357 (GRCm39) |
V131A |
unknown |
Het |
| Btbd7 |
T |
A |
12: 102,754,501 (GRCm39) |
H755L |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,302,303 (GRCm39) |
V1128A |
possibly damaging |
Het |
| Ccl2 |
T |
C |
11: 81,927,360 (GRCm39) |
I43T |
probably damaging |
Het |
| Cdc25b |
T |
G |
2: 131,033,772 (GRCm39) |
S207A |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,100,347 (GRCm39) |
T1725A |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,225,888 (GRCm39) |
S3067T |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,255,970 (GRCm39) |
D448N |
probably damaging |
Het |
| Cpxm1 |
C |
A |
2: 130,237,643 (GRCm39) |
R187S |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,193,732 (GRCm39) |
N916I |
probably damaging |
Het |
| Creld1 |
A |
G |
6: 113,468,686 (GRCm39) |
Y269C |
probably damaging |
Het |
| Ctsz |
G |
T |
2: 174,280,675 (GRCm39) |
S6* |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,966,575 (GRCm39) |
S633P |
probably benign |
Het |
| Eci2 |
T |
A |
13: 35,174,180 (GRCm39) |
N160I |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,015,499 (GRCm39) |
M340K |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,440,220 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Erbb4 |
A |
C |
1: 68,079,331 (GRCm39) |
Y1250D |
possibly damaging |
Het |
| Fhad1 |
C |
T |
4: 141,636,403 (GRCm39) |
V1146M |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,226,185 (GRCm39) |
Y1826C |
probably benign |
Het |
| Gm3252 |
A |
G |
14: 4,743,761 (GRCm38) |
K200E |
probably benign |
Het |
| Gramd1a |
T |
C |
7: 30,832,220 (GRCm39) |
T640A |
possibly damaging |
Het |
| Gse1 |
A |
T |
8: 121,303,117 (GRCm39) |
Q1086L |
unknown |
Het |
| Gtf2f2 |
C |
A |
14: 76,245,164 (GRCm39) |
G41W |
probably damaging |
Het |
| Hhat |
A |
G |
1: 192,196,245 (GRCm39) |
Y483H |
probably damaging |
Het |
| Ifna13 |
T |
A |
4: 88,562,526 (GRCm39) |
R33W |
probably damaging |
Het |
| Ighg2c |
T |
A |
12: 113,252,412 (GRCm39) |
S47C |
|
Het |
| Ing5 |
A |
T |
1: 93,740,154 (GRCm39) |
D101V |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,834,853 (GRCm39) |
T379A |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,207,247 (GRCm39) |
S898T |
probably benign |
Het |
| Mep1a |
T |
C |
17: 43,789,081 (GRCm39) |
D578G |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,633,423 (GRCm39) |
H243L |
probably damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,997 (GRCm39) |
R54H |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,019,861 (GRCm39) |
K752M |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,875 (GRCm39) |
T1104A |
unknown |
Het |
| Mup18 |
T |
A |
4: 61,591,767 (GRCm39) |
D53V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,644 (GRCm39) |
D2634E |
probably damaging |
Het |
| Nfatc3 |
A |
T |
8: 106,825,784 (GRCm39) |
I620F |
possibly damaging |
Het |
| Nrg1 |
A |
T |
8: 32,448,629 (GRCm39) |
L104Q |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,036,455 (GRCm39) |
D646E |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,632,323 (GRCm39) |
R177W |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,951 (GRCm39) |
N17S |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,751 (GRCm39) |
T55S |
possibly damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,330 (GRCm39) |
S6G |
probably benign |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,596 (GRCm39) |
I348T |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,339 (GRCm39) |
V74A |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,132,841 (GRCm39) |
R469H |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,740,741 (GRCm39) |
S395R |
probably damaging |
Het |
| Polr2i |
A |
G |
7: 29,931,790 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Psmc5 |
A |
T |
11: 106,153,858 (GRCm39) |
K397N |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,026 (GRCm39) |
D1372G |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,005,651 (GRCm39) |
V181E |
probably damaging |
Het |
| Rassf3 |
T |
G |
10: 121,253,069 (GRCm39) |
N46T |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,946,272 (GRCm39) |
E301G |
probably benign |
Het |
| Sec24b |
T |
A |
3: 129,783,342 (GRCm39) |
M1099L |
probably benign |
Het |
| Shisa4 |
A |
G |
1: 135,300,944 (GRCm39) |
C109R |
probably damaging |
Het |
| Slc7a1 |
T |
A |
5: 148,279,643 (GRCm39) |
E237V |
probably benign |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,732 (GRCm39) |
I232T |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,612 (GRCm39) |
T172A |
probably benign |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,780 (GRCm39) |
Y192C |
probably damaging |
Het |
| Trim6 |
G |
A |
7: 103,874,853 (GRCm39) |
C30Y |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,017,143 (GRCm39) |
N440Y |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,573,694 (GRCm39) |
I25733S |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,619,358 (GRCm39) |
T16035P |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,668 (GRCm39) |
M548K |
probably damaging |
Het |
| Wfdc8 |
G |
A |
2: 164,447,769 (GRCm39) |
S97F |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,826,041 (GRCm39) |
A207V |
probably null |
Het |
| Xrcc2 |
T |
C |
5: 25,897,217 (GRCm39) |
D244G |
possibly damaging |
Het |
| Zfp251 |
C |
T |
15: 76,737,413 (GRCm39) |
G560E |
probably 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 |
|
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 |
|
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'- GGACTTGGATAGGACTGGTCATC -3'
(R):5'- TGTGCAGTGCTGTCCATTCC -3'
Sequencing Primer
(F):5'- GACAAGGGTATTCAGTTTCTCTCAG -3'
(R):5'- GCAGTGCTGTCCATTCCAATGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation