Incidental Mutation 'R4603:Vmn2r94'
| ID |
345822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r94
|
| Ensembl Gene |
ENSMUSG00000090417 |
| Gene Name |
vomeronasal 2, receptor 94 |
| Synonyms |
EG665227 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18477647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 255
(I255F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
[ENSMUST00000231457]
[ENSMUST00000231815]
|
| AlphaFold |
E9PZK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172190
AA Change: I255F
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: I255F
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231815
AA Change: I255F
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
A |
G |
2: 127,029,019 (GRCm39) |
V60A |
probably damaging |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,429,798 (GRCm39) |
V397A |
probably benign |
Het |
| Afg3l1 |
A |
G |
8: 124,228,674 (GRCm39) |
T747A |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,370,740 (GRCm39) |
S408P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,825,665 (GRCm39) |
T445A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,797,792 (GRCm39) |
E589G |
possibly damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,921,489 (GRCm39) |
G329R |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,532 (GRCm39) |
C393S |
possibly damaging |
Het |
| Bpnt2 |
T |
C |
4: 4,767,878 (GRCm39) |
I299M |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,459,630 (GRCm39) |
C302S |
possibly damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,058,226 (GRCm39) |
M4K |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cdc73 |
T |
C |
1: 143,553,595 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,786,452 (GRCm39) |
V604A |
probably benign |
Het |
| Cxcr1 |
G |
C |
1: 74,231,896 (GRCm39) |
T42S |
probably benign |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,947 (GRCm39) |
V85A |
probably damaging |
Het |
| Fam3d |
T |
A |
14: 8,358,429 (GRCm38) |
S57C |
probably damaging |
Het |
| Fgf8 |
T |
G |
19: 45,726,592 (GRCm39) |
I137L |
probably benign |
Het |
| Fgfrl1 |
T |
A |
5: 108,851,401 (GRCm39) |
V106D |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,784 (GRCm39) |
W613R |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,287 (GRCm39) |
N66S |
probably benign |
Het |
| Gp1bb |
A |
T |
16: 18,439,893 (GRCm39) |
L67Q |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Gstt1 |
T |
C |
10: 75,629,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 32,861,134 (GRCm39) |
R194K |
probably null |
Het |
| Iqcg |
C |
G |
16: 32,861,133 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
C |
T |
2: 55,336,991 (GRCm39) |
R286* |
probably null |
Het |
| Klhl38 |
T |
A |
15: 58,186,616 (GRCm39) |
I38F |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,479,208 (GRCm39) |
P248Q |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
| Mcpt9 |
C |
T |
14: 56,266,049 (GRCm39) |
V60M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Mprip |
T |
C |
11: 59,622,399 (GRCm39) |
V162A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myocd |
T |
C |
11: 65,078,571 (GRCm39) |
D408G |
possibly damaging |
Het |
| Myt1l |
A |
G |
12: 29,892,539 (GRCm39) |
T59A |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,494 (GRCm39) |
E16G |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,092,501 (GRCm39) |
Y203* |
probably null |
Het |
| Nploc4 |
C |
T |
11: 120,276,613 (GRCm39) |
V478I |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,323,456 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
A |
T |
7: 108,354,834 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or6c207 |
G |
A |
10: 129,104,274 (GRCm39) |
A306V |
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,184,395 (GRCm39) |
T241A |
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,248,197 (GRCm39) |
S234P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,217,803 (GRCm39) |
V335E |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,682,861 (GRCm39) |
K187N |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
| Ppp4r1 |
T |
G |
17: 66,120,459 (GRCm39) |
C181G |
probably damaging |
Het |
| Pramel27 |
T |
A |
4: 143,579,451 (GRCm39) |
H345Q |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,628,688 (GRCm39) |
E3478K |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,072,147 (GRCm39) |
|
probably benign |
Het |
| Psme3 |
T |
A |
11: 101,208,435 (GRCm39) |
|
probably null |
Het |
| Ptpre |
C |
A |
7: 135,269,372 (GRCm39) |
Y284* |
probably null |
Het |
| Scnn1a |
A |
G |
6: 125,299,123 (GRCm39) |
I94V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Shc2 |
T |
C |
10: 79,459,690 (GRCm39) |
D418G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,075,389 (GRCm39) |
D661E |
probably damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,301,402 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Tmem270 |
C |
A |
5: 134,930,482 (GRCm39) |
E260* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,150,958 (GRCm39) |
F188S |
probably benign |
Het |
| Trim7 |
T |
A |
11: 48,728,355 (GRCm39) |
M1K |
probably null |
Het |
| Txnip |
A |
G |
3: 96,465,604 (GRCm39) |
E18G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,414,633 (GRCm39) |
N2859D |
probably damaging |
Het |
| Xkr5 |
T |
A |
8: 18,983,733 (GRCm39) |
N603I |
possibly damaging |
Het |
| Zfp512 |
C |
T |
5: 31,637,570 (GRCm39) |
A497V |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,970 (GRCm39) |
N345S |
probably damaging |
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 |
|
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 |
|
R8217:Vmn2r94
|
UTSW |
17 |
18,463,986 (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'- AGCATTGGTTTGACACTTGTCC -3'
(R):5'- CTATCAGATTTTAGGGAGGAGATGG -3'
Sequencing Primer
(F):5'- GGTTTGACACTTGTCCAAAACATGAC -3'
(R):5'- TGGAGAGAAACAGAATCTGCATAGC -3'
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| Posted On |
2015-09-25 |
Incidental Mutation