Incidental Mutation 'R9311:Vmn2r88'
| ID |
723557 |
| 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: 0.154)
|
| Stock # |
R9311 (G1)
|
| Quality Score |
72.0074 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 51650503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 72
(A72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: A72G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: A72G
| 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: A72G
| 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 |
probably benign
Transcript: ENSMUST00000163019
AA Change: A47G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: A47G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: A72G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,495,816 (GRCm39) |
I84T |
possibly damaging |
Het |
| Adad2 |
G |
T |
8: 120,341,986 (GRCm39) |
R268L |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,380,733 (GRCm39) |
N208I |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,709,722 (GRCm39) |
|
probably null |
Het |
| Cd40 |
A |
T |
2: 164,912,667 (GRCm39) |
Q235L |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,859,490 (GRCm39) |
D1137V |
unknown |
Het |
| Cln6 |
T |
C |
9: 62,757,900 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,010,794 (GRCm39) |
|
probably null |
Het |
| Cpne1 |
A |
T |
2: 155,919,723 (GRCm39) |
V277E |
probably damaging |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,139 (GRCm39) |
T41A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,369,463 (GRCm39) |
|
probably null |
Het |
| Eif4e1b |
C |
A |
13: 54,932,332 (GRCm39) |
H56N |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,823,788 (GRCm39) |
D78E |
probably benign |
Het |
| Ephx3 |
C |
G |
17: 32,408,290 (GRCm39) |
D45H |
probably benign |
Het |
| Gabarap |
T |
A |
11: 69,882,549 (GRCm39) |
V4E |
probably benign |
Het |
| Gm5105 |
T |
A |
3: 137,755,418 (GRCm39) |
D56V |
unknown |
Het |
| Gosr2 |
G |
T |
11: 103,574,693 (GRCm39) |
H134Q |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,589,215 (GRCm39) |
V72A |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,416 (GRCm39) |
V422A |
probably benign |
Het |
| Kcne4 |
C |
A |
1: 78,795,824 (GRCm39) |
D157E |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,345 (GRCm39) |
N195S |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,123 (GRCm39) |
V75A |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,722,983 (GRCm39) |
T625A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,275 (GRCm39) |
|
probably null |
Het |
| Lifr |
A |
G |
15: 7,208,418 (GRCm39) |
I599V |
possibly damaging |
Het |
| Lin52 |
A |
T |
12: 84,576,470 (GRCm39) |
E101V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,802,680 (GRCm39) |
I130V |
probably benign |
Het |
| Liph |
C |
T |
16: 21,774,913 (GRCm39) |
R428Q |
probably damaging |
Het |
| Lrrc4c |
A |
C |
2: 97,461,080 (GRCm39) |
I569L |
possibly damaging |
Het |
| Mnat1 |
G |
A |
12: 73,214,916 (GRCm39) |
V78I |
probably benign |
Het |
| Msln |
C |
T |
17: 25,971,990 (GRCm39) |
D76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,253 (GRCm39) |
H495R |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfu1 |
T |
C |
6: 86,986,926 (GRCm39) |
V15A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,608,714 (GRCm39) |
S441P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,214,090 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
A |
T |
2: 36,760,405 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5h27 |
A |
T |
16: 59,006,106 (GRCm39) |
C247S |
unknown |
Het |
| Or5w22 |
A |
G |
2: 87,362,358 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,583,925 (GRCm39) |
S272P |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,978,189 (GRCm39) |
V1109A |
unknown |
Het |
| Pik3c3 |
G |
A |
18: 30,445,666 (GRCm39) |
R551H |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,189,385 (GRCm39) |
V838I |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,119,518 (GRCm39) |
T297K |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,051,320 (GRCm39) |
I67T |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,539 (GRCm39) |
N312K |
probably damaging |
Het |
| Sh3glb1 |
A |
C |
3: 144,397,659 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
C |
T |
2: 130,916,013 (GRCm39) |
C1283Y |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,972,995 (GRCm39) |
I204V |
probably damaging |
Het |
| Sprr5 |
T |
G |
3: 92,440,397 (GRCm39) |
Q14P |
unknown |
Het |
| Supt6 |
T |
C |
11: 78,116,284 (GRCm39) |
Y693C |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,152 (GRCm39) |
V94A |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,846,877 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,863,029 (GRCm39) |
H678R |
possibly damaging |
Het |
| Tnr |
G |
C |
1: 159,677,663 (GRCm39) |
G16A |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,700,563 (GRCm39) |
|
probably null |
Het |
| Tpmt |
A |
G |
13: 47,185,892 (GRCm39) |
|
probably null |
Het |
| Treh |
G |
A |
9: 44,592,655 (GRCm39) |
V87I |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,535,963 (GRCm39) |
D33G |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,703,257 (GRCm39) |
D1171G |
probably benign |
Het |
| Vmn2r61 |
G |
T |
7: 41,950,092 (GRCm39) |
L837F |
possibly damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,288,440 (GRCm39) |
N354Y |
probably damaging |
Het |
| Zscan4b |
C |
A |
7: 10,635,950 (GRCm39) |
V126F |
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 |
|
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 |
|
|
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'- GTGCTCAGACAACACTTAAAGG -3'
(R):5'- GTCCTGTAAGACCTATGGCAC -3'
Sequencing Primer
(F):5'- ACTTGATATGTACAAGACCCTAAAGG -3'
(R):5'- TGGCACATGAATCATCTAAATAACAG -3'
|
| Posted On |
2022-08-26 |
Incidental Mutation