Incidental Mutation 'R5959:Vmn2r80'
ID |
471361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
044146-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R5959 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79005313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 317
(M317L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: M317L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: M317L
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
Cfap61 |
C |
T |
2: 145,789,053 (GRCm39) |
T19M |
probably benign |
Het |
Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
Jak3 |
A |
G |
8: 72,134,715 (GRCm39) |
N481D |
probably damaging |
Het |
Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
Rbm5 |
T |
G |
9: 107,629,339 (GRCm39) |
I338L |
probably benign |
Het |
Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
Trappc11 |
T |
C |
8: 47,954,593 (GRCm39) |
D949G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,778,052 (GRCm39) |
H811L |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
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 |
|
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'- AGGAAACCCTACTTCATTTGCTATC -3'
(R):5'- CAATTCCAAAGAGGCATTCTGC -3'
Sequencing Primer
(F):5'- ATTTGCTATCCCAAAATCTTATCCAC -3'
(R):5'- CAGTTGAAATGCCAGTACC -3'
|
Posted On |
2017-03-31 |