Incidental Mutation 'R8099:Vmn2r8'
ID |
630389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r8
|
Ensembl Gene |
ENSMUSG00000090961 |
Gene Name |
vomeronasal 2, receptor 8 |
Synonyms |
EG627479 |
MMRRC Submission |
067531-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8099 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108945059-108956620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108949700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 382
(N382K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172140]
|
AlphaFold |
L7N472 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172140
AA Change: N382K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126953 Gene: ENSMUSG00000090961 AA Change: N382K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
78 |
419 |
1.1e-28 |
PFAM |
Pfam:NCD3G
|
507 |
561 |
8.2e-18 |
PFAM |
Pfam:7tm_3
|
594 |
829 |
1.1e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
C |
14: 70,394,969 (GRCm39) |
R62G |
probably benign |
Het |
Abcb9 |
A |
G |
5: 124,215,308 (GRCm39) |
F478L |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,621,257 (GRCm39) |
N494K |
probably damaging |
Het |
Atp11a |
T |
G |
8: 12,911,973 (GRCm39) |
M124R |
|
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccdc110 |
T |
A |
8: 46,395,130 (GRCm39) |
H340Q |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,915,801 (GRCm39) |
L724P |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,539,489 (GRCm39) |
N938S |
unknown |
Het |
Chil3 |
T |
G |
3: 106,055,984 (GRCm39) |
D363A |
probably damaging |
Het |
Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
Cpne3 |
A |
G |
4: 19,525,169 (GRCm39) |
V442A |
possibly damaging |
Het |
Ctsh |
T |
C |
9: 89,946,300 (GRCm39) |
V130A |
probably damaging |
Het |
Cyp3a44 |
T |
C |
5: 145,725,212 (GRCm39) |
K330E |
probably benign |
Het |
Dgcr2 |
A |
T |
16: 17,667,633 (GRCm39) |
D275E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,024,321 (GRCm39) |
D919E |
probably benign |
Het |
Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,250 (GRCm39) |
F74L |
probably damaging |
Het |
Epb41l3 |
T |
A |
17: 69,554,683 (GRCm39) |
F261Y |
possibly damaging |
Het |
Fbxo3 |
A |
C |
2: 103,885,280 (GRCm39) |
H383P |
probably damaging |
Het |
Foxp1 |
C |
T |
6: 98,922,510 (GRCm39) |
V441M |
unknown |
Het |
Gm29106 |
C |
T |
1: 118,126,521 (GRCm39) |
S71F |
probably benign |
Het |
Golga3 |
T |
A |
5: 110,336,573 (GRCm39) |
L364* |
probably null |
Het |
H1f1 |
C |
T |
13: 23,947,832 (GRCm39) |
L45F |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,279,422 (GRCm39) |
L110H |
probably damaging |
Het |
Igkv4-53 |
A |
T |
6: 69,625,898 (GRCm39) |
S90T |
possibly damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,571 (GRCm39) |
G162W |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,667,120 (GRCm39) |
I763N |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,369,922 (GRCm39) |
I1613K |
probably benign |
Het |
Mkrn1 |
T |
C |
6: 39,387,031 (GRCm39) |
D102G |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,299,175 (GRCm39) |
|
probably null |
Het |
Nipal4 |
T |
C |
11: 46,052,848 (GRCm39) |
E39G |
probably benign |
Het |
Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
Odam |
T |
C |
5: 88,040,299 (GRCm39) |
I255T |
possibly damaging |
Het |
Or11m3 |
A |
G |
15: 98,395,694 (GRCm39) |
M114V |
probably benign |
Het |
Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,097,014 (GRCm39) |
M837K |
possibly damaging |
Het |
Pitpnm3 |
T |
A |
11: 71,961,144 (GRCm39) |
H357L |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,093,654 (GRCm39) |
Y156H |
possibly damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
Prrc2b |
T |
C |
2: 32,098,686 (GRCm39) |
V666A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,204,985 (GRCm39) |
C725* |
probably null |
Het |
Rapgefl1 |
T |
C |
11: 98,738,209 (GRCm39) |
W437R |
probably damaging |
Het |
Sema4g |
T |
C |
19: 44,980,967 (GRCm39) |
L5P |
probably damaging |
Het |
Sipa1l1 |
C |
T |
12: 82,480,600 (GRCm39) |
P1529L |
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,032,464 (GRCm39) |
L388P |
probably damaging |
Het |
Sltm |
T |
A |
9: 70,493,360 (GRCm39) |
S786T |
probably damaging |
Het |
Srsf1 |
T |
C |
11: 87,940,082 (GRCm39) |
I198T |
probably benign |
Het |
Ssh2 |
C |
T |
11: 77,345,755 (GRCm39) |
R1247* |
probably null |
Het |
Ssu2 |
T |
C |
6: 112,353,438 (GRCm39) |
T229A |
probably benign |
Het |
Stra6 |
T |
A |
9: 58,059,777 (GRCm39) |
H579Q |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,754,833 (GRCm39) |
V559E |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,030,230 (GRCm39) |
Y1762H |
probably damaging |
Het |
Usp15 |
T |
C |
10: 122,982,826 (GRCm39) |
Y263C |
possibly damaging |
Het |
Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,441,185 (GRCm39) |
S224R |
possibly damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,477,659 (GRCm39) |
I251V |
probably benign |
Het |
Wnt2b |
A |
T |
3: 104,854,408 (GRCm39) |
V350D |
possibly damaging |
Het |
|
Other mutations in Vmn2r8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02957:Vmn2r8
|
APN |
5 |
108,950,091 (GRCm39) |
missense |
probably benign |
0.01 |
R0324:Vmn2r8
|
UTSW |
5 |
108,945,807 (GRCm39) |
splice site |
probably null |
|
R0335:Vmn2r8
|
UTSW |
5 |
108,945,317 (GRCm39) |
splice site |
probably null |
|
R0394:Vmn2r8
|
UTSW |
5 |
108,949,938 (GRCm39) |
missense |
probably benign |
0.12 |
R0501:Vmn2r8
|
UTSW |
5 |
108,951,049 (GRCm39) |
missense |
probably benign |
0.03 |
R0615:Vmn2r8
|
UTSW |
5 |
108,947,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R0678:Vmn2r8
|
UTSW |
5 |
108,948,412 (GRCm39) |
missense |
probably benign |
0.00 |
R1167:Vmn2r8
|
UTSW |
5 |
108,951,042 (GRCm39) |
missense |
probably benign |
0.01 |
R1187:Vmn2r8
|
UTSW |
5 |
108,951,085 (GRCm39) |
nonsense |
probably null |
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
R1406:Vmn2r8
|
UTSW |
5 |
108,950,234 (GRCm39) |
missense |
probably benign |
|
R1451:Vmn2r8
|
UTSW |
5 |
108,945,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Vmn2r8
|
UTSW |
5 |
108,950,972 (GRCm39) |
missense |
probably benign |
|
R1874:Vmn2r8
|
UTSW |
5 |
108,950,284 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1908:Vmn2r8
|
UTSW |
5 |
108,945,436 (GRCm39) |
missense |
probably benign |
0.03 |
R1925:Vmn2r8
|
UTSW |
5 |
108,950,019 (GRCm39) |
missense |
probably damaging |
0.97 |
R1960:Vmn2r8
|
UTSW |
5 |
108,947,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Vmn2r8
|
UTSW |
5 |
108,945,961 (GRCm39) |
missense |
probably benign |
0.45 |
R1967:Vmn2r8
|
UTSW |
5 |
108,950,249 (GRCm39) |
missense |
probably benign |
0.01 |
R2095:Vmn2r8
|
UTSW |
5 |
108,956,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2159:Vmn2r8
|
UTSW |
5 |
108,950,169 (GRCm39) |
missense |
probably benign |
0.22 |
R4240:Vmn2r8
|
UTSW |
5 |
108,945,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R4581:Vmn2r8
|
UTSW |
5 |
108,949,570 (GRCm39) |
missense |
probably benign |
0.03 |
R4744:Vmn2r8
|
UTSW |
5 |
108,956,447 (GRCm39) |
missense |
probably benign |
0.00 |
R4755:Vmn2r8
|
UTSW |
5 |
108,949,566 (GRCm39) |
missense |
probably benign |
0.03 |
R4917:Vmn2r8
|
UTSW |
5 |
108,945,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Vmn2r8
|
UTSW |
5 |
108,947,129 (GRCm39) |
missense |
probably benign |
0.16 |
R5141:Vmn2r8
|
UTSW |
5 |
108,956,572 (GRCm39) |
missense |
probably damaging |
0.96 |
R5481:Vmn2r8
|
UTSW |
5 |
108,949,636 (GRCm39) |
missense |
probably benign |
0.09 |
R5571:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Vmn2r8
|
UTSW |
5 |
108,950,325 (GRCm39) |
missense |
probably damaging |
0.99 |
R6003:Vmn2r8
|
UTSW |
5 |
108,945,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Vmn2r8
|
UTSW |
5 |
108,947,211 (GRCm39) |
missense |
probably benign |
0.01 |
R6265:Vmn2r8
|
UTSW |
5 |
108,956,463 (GRCm39) |
missense |
probably benign |
|
R6315:Vmn2r8
|
UTSW |
5 |
108,949,757 (GRCm39) |
missense |
probably benign |
|
R6413:Vmn2r8
|
UTSW |
5 |
108,949,589 (GRCm39) |
missense |
probably benign |
0.09 |
R7120:Vmn2r8
|
UTSW |
5 |
108,956,504 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7406:Vmn2r8
|
UTSW |
5 |
108,948,442 (GRCm39) |
missense |
probably benign |
0.00 |
R7409:Vmn2r8
|
UTSW |
5 |
108,956,449 (GRCm39) |
nonsense |
probably null |
|
R7489:Vmn2r8
|
UTSW |
5 |
108,945,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7532:Vmn2r8
|
UTSW |
5 |
108,950,106 (GRCm39) |
missense |
probably benign |
0.22 |
R7534:Vmn2r8
|
UTSW |
5 |
108,950,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7739:Vmn2r8
|
UTSW |
5 |
108,950,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Vmn2r8
|
UTSW |
5 |
108,945,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8711:Vmn2r8
|
UTSW |
5 |
108,945,962 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8781:Vmn2r8
|
UTSW |
5 |
108,945,597 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8874:Vmn2r8
|
UTSW |
5 |
108,956,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
R8928:Vmn2r8
|
UTSW |
5 |
108,950,131 (GRCm39) |
missense |
|
|
R9288:Vmn2r8
|
UTSW |
5 |
108,950,185 (GRCm39) |
missense |
probably benign |
0.39 |
R9596:Vmn2r8
|
UTSW |
5 |
108,947,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9652:Vmn2r8
|
UTSW |
5 |
108,951,107 (GRCm39) |
missense |
probably benign |
0.18 |
Z1088:Vmn2r8
|
UTSW |
5 |
108,949,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTCCGTTTAAAAGATCCCATTG -3'
(R):5'- ACTTTTGAACACCACCACAGTG -3'
Sequencing Primer
(F):5'- CTGCTGACAGTCAGTGAA -3'
(R):5'- ACCACAGTGAGATTGCTAAATTTAAG -3'
|
Posted On |
2020-06-30 |