Incidental Mutation 'R8217:Vmn2r94'
ID |
636441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r94
|
Ensembl Gene |
ENSMUSG00000090417 |
Gene Name |
vomeronasal 2, receptor 94 |
Synonyms |
EG665227 |
MMRRC Submission |
067658-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R8217 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18463986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 768
(E768G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
|
AlphaFold |
E9PZK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172190
AA Change: E768G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126386 Gene: ENSMUSG00000090417 AA Change: E768G
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
42 |
425 |
1.7e-35 |
PFAM |
Pfam:NCD3G
|
469 |
522 |
3.5e-21 |
PFAM |
Pfam:7tm_3
|
553 |
790 |
1.7e-51 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,037,921 (GRCm39) |
L406P |
probably damaging |
Het |
Aph1b |
T |
C |
9: 66,686,554 (GRCm39) |
K239E |
possibly damaging |
Het |
Atp13a4 |
C |
A |
16: 29,222,619 (GRCm39) |
V1102F |
|
Het |
B3gat1 |
G |
A |
9: 26,668,165 (GRCm39) |
A265T |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,988,850 (GRCm39) |
E419G |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,080,197 (GRCm39) |
L380P |
probably damaging |
Het |
Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
Cfi |
A |
C |
3: 129,648,650 (GRCm39) |
N178T |
possibly damaging |
Het |
Col5a1 |
T |
A |
2: 27,812,135 (GRCm39) |
D72E |
unknown |
Het |
Cspg4 |
T |
A |
9: 56,797,637 (GRCm39) |
V1367D |
possibly damaging |
Het |
D5Ertd579e |
A |
C |
5: 36,771,402 (GRCm39) |
S998A |
probably benign |
Het |
Ehf |
T |
C |
2: 103,109,976 (GRCm39) |
E77G |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,820,937 (GRCm39) |
I662T |
probably benign |
Het |
F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Klhl8 |
A |
G |
5: 104,015,466 (GRCm39) |
V486A |
possibly damaging |
Het |
Lrrc72 |
A |
T |
12: 36,258,676 (GRCm39) |
D60E |
probably damaging |
Het |
Marchf5 |
C |
T |
19: 37,185,210 (GRCm39) |
|
probably benign |
Het |
Mtmr12 |
T |
C |
15: 12,259,726 (GRCm39) |
I365T |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nod2 |
A |
C |
8: 89,390,785 (GRCm39) |
D364A |
probably benign |
Het |
Numa1 |
T |
A |
7: 101,641,876 (GRCm39) |
M108K |
possibly damaging |
Het |
Nutm2 |
G |
T |
13: 50,623,759 (GRCm39) |
R152L |
probably benign |
Het |
Or14c43 |
A |
G |
7: 86,115,390 (GRCm39) |
Y257C |
probably damaging |
Het |
Or2t46 |
A |
T |
11: 58,471,792 (GRCm39) |
M41L |
probably benign |
Het |
Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
Pak1ip1 |
T |
A |
13: 41,166,126 (GRCm39) |
S350R |
probably benign |
Het |
Pcdha3 |
T |
C |
18: 37,079,974 (GRCm39) |
F239L |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pkm |
C |
T |
9: 59,586,092 (GRCm39) |
T524I |
possibly damaging |
Het |
Plekhg2 |
T |
A |
7: 28,067,717 (GRCm39) |
Q245L |
probably null |
Het |
Pola2 |
T |
A |
19: 6,013,855 (GRCm39) |
K26N |
possibly damaging |
Het |
Prune2 |
G |
T |
19: 17,097,480 (GRCm39) |
A995S |
probably benign |
Het |
Rap2b |
C |
A |
3: 61,272,551 (GRCm39) |
T25K |
possibly damaging |
Het |
Scrib |
A |
G |
15: 75,939,004 (GRCm39) |
S165P |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 142,197,713 (GRCm39) |
H2122L |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,834,599 (GRCm39) |
F200I |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,782,964 (GRCm39) |
V226A |
possibly damaging |
Het |
Sik1 |
T |
A |
17: 32,070,286 (GRCm39) |
H141L |
probably damaging |
Het |
Slc9a5 |
A |
T |
8: 106,089,956 (GRCm39) |
E638V |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,221,202 (GRCm39) |
C15R |
probably benign |
Het |
Slit1 |
C |
T |
19: 41,612,959 (GRCm39) |
D854N |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tec |
A |
T |
5: 72,921,602 (GRCm39) |
M372K |
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,745,373 (GRCm39) |
F237L |
probably benign |
Het |
Trio |
A |
T |
15: 27,819,055 (GRCm39) |
L1597Q |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,957,247 (GRCm39) |
M723K |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,783,694 (GRCm39) |
I592T |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
Zpld1 |
A |
G |
16: 55,047,295 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r94 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01396:Vmn2r94
|
APN |
17 |
18,477,301 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01676:Vmn2r94
|
APN |
17 |
18,477,272 (GRCm39) |
missense |
probably benign |
|
IGL01687:Vmn2r94
|
APN |
17 |
18,473,574 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02113:Vmn2r94
|
APN |
17 |
18,477,937 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02408:Vmn2r94
|
APN |
17 |
18,473,523 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02451:Vmn2r94
|
APN |
17 |
18,478,453 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02755:Vmn2r94
|
APN |
17 |
18,464,761 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02822:Vmn2r94
|
APN |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02868:Vmn2r94
|
APN |
17 |
18,464,316 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03008:Vmn2r94
|
APN |
17 |
18,477,908 (GRCm39) |
missense |
probably benign |
0.05 |
R0112:Vmn2r94
|
UTSW |
17 |
18,463,866 (GRCm39) |
missense |
probably benign |
|
R0371:Vmn2r94
|
UTSW |
17 |
18,477,556 (GRCm39) |
missense |
probably benign |
0.11 |
R0413:Vmn2r94
|
UTSW |
17 |
18,464,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R0627:Vmn2r94
|
UTSW |
17 |
18,477,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Vmn2r94
|
UTSW |
17 |
18,497,695 (GRCm39) |
nonsense |
probably null |
|
R0815:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1125:Vmn2r94
|
UTSW |
17 |
18,477,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Vmn2r94
|
UTSW |
17 |
18,477,344 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1491:Vmn2r94
|
UTSW |
17 |
18,477,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Vmn2r94
|
UTSW |
17 |
18,477,242 (GRCm39) |
missense |
probably benign |
0.07 |
R1610:Vmn2r94
|
UTSW |
17 |
18,463,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Vmn2r94
|
UTSW |
17 |
18,464,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R1716:Vmn2r94
|
UTSW |
17 |
18,477,635 (GRCm39) |
missense |
probably benign |
0.01 |
R1843:Vmn2r94
|
UTSW |
17 |
18,464,732 (GRCm39) |
missense |
probably benign |
0.01 |
R1882:Vmn2r94
|
UTSW |
17 |
18,464,476 (GRCm39) |
missense |
probably benign |
0.07 |
R1936:Vmn2r94
|
UTSW |
17 |
18,464,554 (GRCm39) |
nonsense |
probably null |
|
R2273:Vmn2r94
|
UTSW |
17 |
18,477,593 (GRCm39) |
missense |
probably benign |
0.00 |
R2508:Vmn2r94
|
UTSW |
17 |
18,477,736 (GRCm39) |
missense |
probably benign |
0.32 |
R3436:Vmn2r94
|
UTSW |
17 |
18,478,650 (GRCm39) |
splice site |
probably benign |
|
R3917:Vmn2r94
|
UTSW |
17 |
18,464,620 (GRCm39) |
missense |
probably benign |
|
R3968:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3969:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4257:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Vmn2r94
|
UTSW |
17 |
18,463,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Vmn2r94
|
UTSW |
17 |
18,464,605 (GRCm39) |
missense |
probably benign |
0.01 |
R4436:Vmn2r94
|
UTSW |
17 |
18,478,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Vmn2r94
|
UTSW |
17 |
18,477,647 (GRCm39) |
missense |
probably benign |
0.33 |
R4821:Vmn2r94
|
UTSW |
17 |
18,477,293 (GRCm39) |
missense |
probably benign |
0.02 |
R5288:Vmn2r94
|
UTSW |
17 |
18,464,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Vmn2r94
|
UTSW |
17 |
18,476,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5735:Vmn2r94
|
UTSW |
17 |
18,464,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6066:Vmn2r94
|
UTSW |
17 |
18,477,695 (GRCm39) |
missense |
probably damaging |
0.99 |
R6124:Vmn2r94
|
UTSW |
17 |
18,464,321 (GRCm39) |
missense |
probably benign |
0.01 |
R6189:Vmn2r94
|
UTSW |
17 |
18,477,996 (GRCm39) |
missense |
probably benign |
0.25 |
R6245:Vmn2r94
|
UTSW |
17 |
18,478,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6574:Vmn2r94
|
UTSW |
17 |
18,476,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7236:Vmn2r94
|
UTSW |
17 |
18,477,811 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7317:Vmn2r94
|
UTSW |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Vmn2r94
|
UTSW |
17 |
18,477,603 (GRCm39) |
missense |
probably benign |
0.00 |
R7399:Vmn2r94
|
UTSW |
17 |
18,464,765 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7478:Vmn2r94
|
UTSW |
17 |
18,477,767 (GRCm39) |
missense |
probably benign |
|
R8099:Vmn2r94
|
UTSW |
17 |
18,477,659 (GRCm39) |
missense |
probably benign |
0.00 |
R8189:Vmn2r94
|
UTSW |
17 |
18,478,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Vmn2r94
|
UTSW |
17 |
18,463,984 (GRCm39) |
missense |
possibly damaging |
0.45 |
R8684:Vmn2r94
|
UTSW |
17 |
18,497,912 (GRCm39) |
start gained |
probably benign |
|
R8889:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8892:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9282:Vmn2r94
|
UTSW |
17 |
18,497,751 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9526:Vmn2r94
|
UTSW |
17 |
18,477,261 (GRCm39) |
missense |
probably benign |
|
R9647:Vmn2r94
|
UTSW |
17 |
18,463,884 (GRCm39) |
missense |
probably benign |
0.00 |
R9748:Vmn2r94
|
UTSW |
17 |
18,463,989 (GRCm39) |
missense |
probably benign |
0.21 |
R9789:Vmn2r94
|
UTSW |
17 |
18,464,038 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Vmn2r94
|
UTSW |
17 |
18,473,549 (GRCm39) |
nonsense |
probably null |
|
X0011:Vmn2r94
|
UTSW |
17 |
18,464,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0028:Vmn2r94
|
UTSW |
17 |
18,464,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGAATCACTAGAGCAATTGTG -3'
(R):5'- ACTCCGTCCTGGGATATCTC -3'
Sequencing Primer
(F):5'- TCACTAGAGCAATTGTGGTTTTC -3'
(R):5'- GGGATATCTCTGTATCTTGGCCC -3'
|
Posted On |
2020-07-13 |