Incidental Mutation 'R6110:Vmn2r80'
| ID |
484794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
044428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6110 (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 79017837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 521
(C521S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: C521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: C521S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
T |
C |
4: 56,740,224 (GRCm39) |
E378G |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
| Alkal2 |
G |
A |
12: 30,937,057 (GRCm39) |
R90Q |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,355,549 (GRCm39) |
V309M |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,883 (GRCm39) |
L3455P |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,436 (GRCm39) |
H1438Q |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,003,996 (GRCm39) |
S757P |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,090,283 (GRCm39) |
F462Y |
probably damaging |
Het |
| C4bp |
T |
A |
1: 130,566,809 (GRCm39) |
K177* |
probably null |
Het |
| Cacna1h |
G |
T |
17: 25,610,250 (GRCm39) |
P752Q |
probably benign |
Het |
| Cd34 |
G |
A |
1: 194,631,877 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
G |
T |
7: 140,428,554 (GRCm39) |
R73L |
possibly damaging |
Het |
| Clptm1 |
G |
A |
7: 19,367,731 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,673,802 (GRCm39) |
S1081P |
probably damaging |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,763,835 (GRCm39) |
M1166L |
possibly damaging |
Het |
| Fam151a |
G |
A |
4: 106,605,395 (GRCm39) |
V586M |
probably damaging |
Het |
| Fap |
T |
G |
2: 62,385,114 (GRCm39) |
Y54S |
possibly damaging |
Het |
| Grhl1 |
A |
G |
12: 24,630,746 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,064 (GRCm39) |
Y91C |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Kat6b |
C |
T |
14: 21,720,555 (GRCm39) |
R1745C |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,267 (GRCm39) |
L898P |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,317 (GRCm39) |
Q84R |
unknown |
Het |
| Mfn1 |
G |
A |
3: 32,617,173 (GRCm39) |
M18I |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,354,586 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
C |
G |
13: 69,775,767 (GRCm39) |
Q404E |
probably benign |
Het |
| Or1j17 |
T |
C |
2: 36,578,559 (GRCm39) |
S182P |
probably benign |
Het |
| Or2at4 |
C |
T |
7: 99,384,377 (GRCm39) |
S9L |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,779 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Or5j3 |
T |
A |
2: 86,129,019 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5p70 |
G |
T |
7: 107,995,035 (GRCm39) |
S236I |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,773,996 (GRCm39) |
I90V |
possibly damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,442 (GRCm39) |
S48T |
possibly damaging |
Het |
| Pax2 |
T |
A |
19: 44,779,175 (GRCm39) |
S183T |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,509 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,482 (GRCm39) |
V264A |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,606,279 (GRCm39) |
N1199K |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,385,297 (GRCm39) |
S6P |
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,630,969 (GRCm39) |
Y502H |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,914,085 (GRCm39) |
I91T |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,030,302 (GRCm39) |
I247S |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,395,731 (GRCm39) |
L594P |
probably damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,208,588 (GRCm39) |
M311K |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,024,589 (GRCm39) |
I588T |
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,643,304 (GRCm39) |
V655A |
probably damaging |
Het |
| Uba7 |
T |
A |
9: 107,856,138 (GRCm39) |
D504E |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,215,477 (GRCm39) |
E117G |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,005 (GRCm39) |
I296K |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,949,958 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,237,434 (GRCm39) |
S766P |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,953,486 (GRCm39) |
N165S |
possibly damaging |
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 |
|
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'- CTGTATTGTTGGAAACATGTAGGC -3'
(R):5'- AACGTAATGGTCATGTGGTTCC -3'
Sequencing Primer
(F):5'- TTCCCTAAGGCAGAGGATTATGAC -3'
(R):5'- AATGGTCATGTGGTTCCCTTGTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation