Incidental Mutation 'R9004:Vmn2r88'
| ID |
685170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
068834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9004 (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 51650624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 112
(L112F)
|
| 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: L112F
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: L112F
| 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: L112F
| 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: L87F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228139
AA Change: L112F
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,454,197 (GRCm39) |
|
probably benign |
Het |
| 2310057N15Rik |
C |
A |
16: 88,570,986 (GRCm39) |
C18F |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,841,483 (GRCm39) |
M941K |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,075,051 (GRCm39) |
I254T |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,790 (GRCm39) |
T519K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,378 (GRCm39) |
V1149A |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,109,894 (GRCm39) |
Y69C |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,279,921 (GRCm39) |
D529G |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,276 (GRCm39) |
C1990S |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,102,138 (GRCm39) |
N42I |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,713 (GRCm39) |
P2509S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,225,662 (GRCm39) |
D1042V |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,332,883 (GRCm39) |
V216A |
possibly damaging |
Het |
| Cdr2 |
T |
C |
7: 120,557,722 (GRCm39) |
N268D |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,453,020 (GRCm39) |
S351G |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,909 (GRCm39) |
C205R |
possibly damaging |
Het |
| Dalrd3 |
C |
A |
9: 108,449,430 (GRCm39) |
D454E |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,713,798 (GRCm39) |
L1622P |
unknown |
Het |
| Eif2s2 |
A |
G |
2: 154,720,404 (GRCm39) |
Y172H |
probably benign |
Het |
| Ell |
T |
A |
8: 71,031,604 (GRCm39) |
S101T |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,698,550 (GRCm39) |
T337A |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,649,735 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,305,022 (GRCm39) |
|
probably benign |
Het |
| Gfap |
A |
G |
11: 102,782,268 (GRCm39) |
I414T |
probably benign |
Het |
| Ginm1 |
A |
C |
10: 7,651,019 (GRCm39) |
V129G |
probably damaging |
Het |
| Helq |
C |
T |
5: 100,926,598 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,237,137 (GRCm39) |
D405G |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,045 (GRCm39) |
V584A |
probably damaging |
Het |
| Iglc2 |
T |
C |
16: 19,017,425 (GRCm39) |
K59R |
probably benign |
Het |
| Inhba |
T |
C |
13: 16,201,526 (GRCm39) |
S363P |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,615,958 (GRCm39) |
K656E |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,486,171 (GRCm39) |
L492I |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Naaladl1 |
C |
A |
19: 6,155,965 (GRCm39) |
D46E |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,910,359 (GRCm39) |
V1279I |
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,293,726 (GRCm39) |
D161E |
possibly damaging |
Het |
| Nck2 |
A |
T |
1: 43,593,510 (GRCm39) |
N239I |
|
Het |
| Nlrx1 |
C |
T |
9: 44,167,644 (GRCm39) |
R751H |
probably benign |
Het |
| Or10ag54 |
T |
A |
2: 87,099,695 (GRCm39) |
F190Y |
possibly damaging |
Het |
| Or8b46 |
A |
G |
9: 38,450,530 (GRCm39) |
Y113C |
probably benign |
Het |
| Or8g17 |
C |
A |
9: 38,930,580 (GRCm39) |
V86L |
probably benign |
Het |
| Oscar |
A |
T |
7: 3,619,040 (GRCm39) |
C13S |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,763,979 (GRCm39) |
I511F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,518 (GRCm39) |
D331G |
possibly damaging |
Het |
| Pde4c |
C |
T |
8: 71,199,515 (GRCm39) |
S265L |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,662,914 (GRCm39) |
S502G |
probably benign |
Het |
| Pigl |
A |
G |
11: 62,403,779 (GRCm39) |
Y237C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,421 (GRCm39) |
Q2880L |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,406,768 (GRCm39) |
H2335L |
probably benign |
Het |
| Ppp1r17 |
A |
G |
6: 56,008,513 (GRCm39) |
E151G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,849 (GRCm39) |
Y11H |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,137 (GRCm39) |
K147N |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,732,687 (GRCm39) |
F526I |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,608,314 (GRCm39) |
N661D |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,697,771 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,820 (GRCm39) |
T402A |
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,702,859 (GRCm39) |
D178G |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,109 (GRCm39) |
L225P |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,018 (GRCm39) |
E105V |
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,552,290 (GRCm39) |
I520T |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,152,738 (GRCm39) |
V445A |
probably benign |
Het |
| Tomm6 |
T |
C |
17: 47,998,833 (GRCm39) |
D40G |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,520,443 (GRCm39) |
Q164K |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,670,284 (GRCm39) |
H150R |
|
Het |
| Ube2g2 |
A |
T |
10: 77,479,434 (GRCm39) |
M126L |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,819,515 (GRCm39) |
D496G |
probably damaging |
Het |
| Vmn1r74 |
A |
C |
7: 11,580,840 (GRCm39) |
I47L |
probably benign |
Het |
| Wwc2 |
A |
C |
8: 48,373,732 (GRCm39) |
L45V |
probably damaging |
Het |
| Zfp459 |
A |
C |
13: 67,556,714 (GRCm39) |
I123R |
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 |
|
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'- TGTGCTCAGACAACACTTAAAGG -3'
(R):5'- TGTCACAAATTCTTACCAGTGGC -3'
Sequencing Primer
(F):5'- AAAATAATTAGTCTGGCTGTGCGG -3'
(R):5'- CTTACCAGTGGCATTGAAGAATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation