Incidental Mutation 'R9125:Vmn2r80'
| ID |
693194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
068925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78984760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 37
(D37E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: D37E
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
1.5e-36 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.9e-22 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
A |
17: 84,976,425 (GRCm39) |
H471Y |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,213,517 (GRCm39) |
L61P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,733,744 (GRCm39) |
D622V |
probably damaging |
Het |
| Antxr2 |
G |
A |
5: 98,151,973 (GRCm39) |
S166F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,474,928 (GRCm39) |
G682D |
possibly damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,561 (GRCm39) |
E414G |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,597 (GRCm39) |
D96N |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,860,563 (GRCm39) |
D546E |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,917,762 (GRCm39) |
R545S |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,757,357 (GRCm39) |
Q181* |
probably null |
Het |
| Cib1 |
T |
C |
7: 79,877,751 (GRCm39) |
D182G |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,655,477 (GRCm39) |
H76R |
probably benign |
Het |
| Cop1 |
T |
G |
1: 159,067,187 (GRCm39) |
F157V |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,505,374 (GRCm39) |
P2168S |
|
Het |
| Dap3 |
T |
A |
3: 88,837,861 (GRCm39) |
T130S |
probably benign |
Het |
| Ddb2 |
T |
A |
2: 91,064,593 (GRCm39) |
K106* |
probably null |
Het |
| Derl3 |
G |
A |
10: 75,730,443 (GRCm39) |
V169I |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,102,074 (GRCm39) |
C353* |
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,736,360 (GRCm39) |
D2110V |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,269,525 (GRCm39) |
N217S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,693 (GRCm39) |
T184A |
probably damaging |
Het |
| Gfpt1 |
G |
A |
6: 87,053,248 (GRCm39) |
V403I |
probably benign |
Het |
| Gm7276 |
A |
G |
18: 77,273,147 (GRCm39) |
S196P |
unknown |
Het |
| Grik1 |
T |
A |
16: 87,852,956 (GRCm39) |
T76S |
|
Het |
| Hrnr |
A |
G |
3: 93,238,863 (GRCm39) |
N3034D |
unknown |
Het |
| Kmt2c |
T |
C |
5: 25,489,194 (GRCm39) |
T4582A |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,875,412 (GRCm39) |
I496V |
probably benign |
Het |
| Muc3a |
A |
G |
5: 137,245,210 (GRCm39) |
L115P |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,871 (GRCm39) |
L40P |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,021,177 (GRCm39) |
D216V |
probably damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,294 (GRCm39) |
V225M |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,506,108 (GRCm39) |
I197K |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,178,589 (GRCm39) |
I1776T |
probably benign |
Het |
| Pira12 |
T |
A |
7: 3,900,021 (GRCm39) |
I194L |
possibly damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,269,014 (GRCm39) |
D162G |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,386,739 (GRCm39) |
E116V |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,073 (GRCm39) |
V270A |
probably benign |
Het |
| Prorp |
A |
T |
12: 55,355,611 (GRCm39) |
D372V |
possibly damaging |
Het |
| Psme2 |
T |
A |
14: 55,828,302 (GRCm39) |
K15N |
possibly damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,618 (GRCm39) |
R125C |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,617,874 (GRCm39) |
E128G |
probably null |
Het |
| Rnf145 |
G |
T |
11: 44,450,819 (GRCm39) |
R381L |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,347,433 (GRCm39) |
K289E |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,669,292 (GRCm39) |
V3504A |
probably benign |
Het |
| Selp |
T |
A |
1: 163,951,356 (GRCm39) |
I30N |
probably benign |
Het |
| Serpinb5 |
C |
T |
1: 106,798,137 (GRCm39) |
A42V |
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,915,633 (GRCm39) |
G142S |
unknown |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,751 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,086,656 (GRCm39) |
E645K |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,878,598 (GRCm39) |
T372S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,693,583 (GRCm39) |
D1262E |
possibly damaging |
Het |
| Speer4a3 |
T |
C |
5: 26,156,596 (GRCm39) |
M128V |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,784,241 (GRCm39) |
Q661L |
probably benign |
Het |
| Tarbp1 |
G |
T |
8: 127,174,202 (GRCm39) |
T868K |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,023,531 (GRCm39) |
S101P |
probably damaging |
Het |
| Tnfsf10 |
A |
C |
3: 27,380,028 (GRCm39) |
|
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,823,802 (GRCm39) |
R1001K |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,718,740 (GRCm39) |
S2988T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,335 (GRCm39) |
I268M |
possibly damaging |
Het |
| Vmn1r27 |
G |
A |
6: 58,192,416 (GRCm39) |
T196I |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,996,047 (GRCm39) |
H200Q |
|
Het |
| Washc5 |
T |
C |
15: 59,209,134 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,526,106 (GRCm39) |
F210L |
probably damaging |
Het |
| Wscd2 |
C |
A |
5: 113,715,417 (GRCm39) |
A419E |
probably benign |
Het |
|
| Other mutations in Vmn2r80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Vmn2r80
|
APN |
10 |
79,030,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Vmn2r80
|
APN |
10 |
79,030,081 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01611:Vmn2r80
|
APN |
10 |
79,007,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Vmn2r80
|
APN |
10 |
79,007,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01877:Vmn2r80
|
APN |
10 |
79,007,334 (GRCm39) |
splice site |
probably null |
|
|
IGL02673:Vmn2r80
|
APN |
10 |
79,005,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02756:Vmn2r80
|
APN |
10 |
79,030,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Vmn2r80
|
APN |
10 |
79,007,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03382:Vmn2r80
|
APN |
10 |
79,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0129:Vmn2r80
|
UTSW |
10 |
79,005,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Vmn2r80
|
UTSW |
10 |
78,984,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0567:Vmn2r80
|
UTSW |
10 |
79,030,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1510:Vmn2r80
|
UTSW |
10 |
79,005,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1519:Vmn2r80
|
UTSW |
10 |
79,030,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Vmn2r80
|
UTSW |
10 |
79,030,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Vmn2r80
|
UTSW |
10 |
79,030,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Vmn2r80
|
UTSW |
10 |
79,030,223 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Vmn2r80
|
UTSW |
10 |
79,030,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2237:Vmn2r80
|
UTSW |
10 |
79,004,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Vmn2r80
|
UTSW |
10 |
79,007,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Vmn2r80
|
UTSW |
10 |
78,984,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3408:Vmn2r80
|
UTSW |
10 |
79,004,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4502:Vmn2r80
|
UTSW |
10 |
78,984,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Vmn2r80
|
UTSW |
10 |
79,030,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4851:Vmn2r80
|
UTSW |
10 |
79,030,156 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4947:Vmn2r80
|
UTSW |
10 |
79,030,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Vmn2r80
|
UTSW |
10 |
79,030,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5217:Vmn2r80
|
UTSW |
10 |
79,004,980 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5226:Vmn2r80
|
UTSW |
10 |
79,029,874 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5512:Vmn2r80
|
UTSW |
10 |
79,004,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5618:Vmn2r80
|
UTSW |
10 |
78,984,755 (GRCm39) |
missense |
probably benign |
|
|
R5959:Vmn2r80
|
UTSW |
10 |
79,005,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Vmn2r80
|
UTSW |
10 |
78,984,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Vmn2r80
|
UTSW |
10 |
79,017,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Vmn2r80
|
UTSW |
10 |
79,030,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6508:Vmn2r80
|
UTSW |
10 |
79,030,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6843:Vmn2r80
|
UTSW |
10 |
79,005,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Vmn2r80
|
UTSW |
10 |
79,005,438 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7048:Vmn2r80
|
UTSW |
10 |
79,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Vmn2r80
|
UTSW |
10 |
79,030,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Vmn2r80
|
UTSW |
10 |
79,005,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7559:Vmn2r80
|
UTSW |
10 |
79,030,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Vmn2r80
|
UTSW |
10 |
79,030,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Vmn2r80
|
UTSW |
10 |
78,984,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Vmn2r80
|
UTSW |
10 |
78,984,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Vmn2r80
|
UTSW |
10 |
78,984,710 (GRCm39) |
missense |
probably benign |
|
|
R8688:Vmn2r80
|
UTSW |
10 |
79,004,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Vmn2r80
|
UTSW |
10 |
79,017,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Vmn2r80
|
UTSW |
10 |
79,005,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9147:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9148:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9187:Vmn2r80
|
UTSW |
10 |
79,030,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9218:Vmn2r80
|
UTSW |
10 |
79,030,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9553:Vmn2r80
|
UTSW |
10 |
78,984,743 (GRCm39) |
missense |
probably benign |
|
|
R9612:Vmn2r80
|
UTSW |
10 |
79,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Vmn2r80
|
UTSW |
10 |
78,984,672 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9769:Vmn2r80
|
UTSW |
10 |
79,005,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,232 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTCTCTAGATGATTAGAGTGACG -3'
(R):5'- AGGGAATATATGGAGCCTCGTG -3'
Sequencing Primer
(F):5'- GAGTGACGTATTCATTCAGAATGTC -3'
(R):5'- ATATATGGAGCCTCGTGATGAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation