Incidental Mutation 'R0129:Vmn2r80'
| ID |
21574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
038414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79005330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 322
(H322Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: H322Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: H322Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.7%
- 10x: 92.2%
- 20x: 74.4%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
G |
18: 74,920,265 (GRCm39) |
D31G |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,050,939 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,862 (GRCm39) |
C764R |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,410,976 (GRCm39) |
F171C |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,336,395 (GRCm39) |
F408S |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,474,163 (GRCm39) |
L26P |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,650,600 (GRCm39) |
M524K |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,635,370 (GRCm39) |
I922N |
probably damaging |
Het |
| Atp5pd |
T |
C |
11: 115,308,744 (GRCm39) |
E47G |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,835,755 (GRCm39) |
D70G |
probably benign |
Het |
| Bola2 |
G |
A |
7: 126,295,731 (GRCm39) |
V56M |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,944,918 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
G |
12: 111,271,393 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,710,185 (GRCm39) |
N403S |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,847 (GRCm39) |
M662V |
probably benign |
Het |
| Chd3 |
C |
A |
11: 69,239,327 (GRCm39) |
E1607* |
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,946,285 (GRCm39) |
Y9* |
probably null |
Het |
| Clta |
A |
G |
4: 44,032,424 (GRCm39) |
N200S |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,129,956 (GRCm39) |
S1722F |
possibly damaging |
Het |
| Cyria |
C |
T |
12: 12,412,350 (GRCm39) |
T204I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,800,576 (GRCm39) |
S905P |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,343 (GRCm39) |
K1347R |
probably damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,441 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,370,131 (GRCm39) |
A4519S |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,838,466 (GRCm39) |
C1120R |
probably benign |
Het |
| Efs |
C |
T |
14: 55,154,680 (GRCm39) |
A427T |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,531,799 (GRCm39) |
E399G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,225,083 (GRCm39) |
T1431A |
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,690,120 (GRCm39) |
S830P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,355,357 (GRCm39) |
C2203S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,326,637 (GRCm39) |
V120M |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,546,503 (GRCm39) |
T1026I |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,345,658 (GRCm39) |
I394T |
probably benign |
Het |
| Ldlrap1 |
A |
C |
4: 134,484,733 (GRCm39) |
V87G |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,580,403 (GRCm39) |
V155I |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,116,933 (GRCm39) |
N116I |
probably damaging |
Het |
| Lonp2 |
C |
T |
8: 87,361,518 (GRCm39) |
R232C |
probably damaging |
Het |
| Lrch1 |
C |
A |
14: 75,073,186 (GRCm39) |
C151F |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,812 (GRCm39) |
Y579C |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,327,068 (GRCm39) |
S4808G |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,513,494 (GRCm39) |
K501N |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,165,337 (GRCm39) |
R1523L |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,312,914 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
C |
4: 138,165,032 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,901,411 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
G |
C |
2: 26,350,470 (GRCm39) |
H2223Q |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,053,936 (GRCm39) |
L2200M |
probably benign |
Het |
| Odad3 |
G |
T |
9: 21,904,848 (GRCm39) |
R313S |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,667 (GRCm39) |
|
probably null |
Het |
| Or12k5 |
G |
A |
2: 36,895,057 (GRCm39) |
R190* |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,196 (GRCm39) |
F206L |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,236 (GRCm39) |
Y113C |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,722 (GRCm39) |
|
probably null |
Het |
| Ppm1h |
G |
A |
10: 122,777,260 (GRCm39) |
G509R |
probably damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,345,207 (GRCm39) |
E94K |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,509,164 (GRCm39) |
I372F |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 162,119,990 (GRCm39) |
T159I |
probably benign |
Het |
| Rab20 |
A |
G |
8: 11,504,415 (GRCm39) |
F95S |
probably damaging |
Het |
| Rfc3 |
A |
C |
5: 151,574,616 (GRCm39) |
M1R |
probably null |
Het |
| Skp2 |
A |
G |
15: 9,125,280 (GRCm39) |
S100P |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,432,352 (GRCm39) |
T684S |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,782 (GRCm39) |
K355E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,610,903 (GRCm39) |
K355N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,750,800 (GRCm39) |
|
probably benign |
Het |
| Tsfm |
A |
G |
10: 126,866,339 (GRCm39) |
L74P |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,564,609 (GRCm39) |
N28509K |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,629,252 (GRCm39) |
M1I |
probably null |
Het |
| Zkscan8 |
A |
T |
13: 21,706,441 (GRCm39) |
S212T |
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 |
|
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 |
|
R9125:Vmn2r80
|
UTSW |
10 |
78,984,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- GATGACCACAGAGGTGCTCAGTTTC -3'
(R):5'- TCCCTGGCAACAATTCCAAAGAGG -3'
Sequencing Primer
(F):5'- GGAGGAAACCCTACTTCATTTGC -3'
(R):5'- AATTCCAAAGAGGCATTCTGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation