Incidental Mutation 'R5735:Vmn2r94'
ID |
451674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r94
|
Ensembl Gene |
ENSMUSG00000090417 |
Gene Name |
vomeronasal 2, receptor 94 |
Synonyms |
EG665227 |
MMRRC Submission |
043349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5735 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 18464066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 741
(S741R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
[ENSMUST00000231457]
[ENSMUST00000231815]
|
AlphaFold |
E9PZK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172190
AA Change: S741R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126386 Gene: ENSMUSG00000090417 AA Change: S741R
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
C |
A |
13: 70,984,337 (GRCm39) |
D109Y |
possibly damaging |
Het |
Armc8 |
T |
A |
9: 99,379,447 (GRCm39) |
|
probably null |
Het |
Atg4b |
G |
T |
1: 93,701,519 (GRCm39) |
G71V |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,042,601 (GRCm39) |
M54L |
probably benign |
Het |
Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
Bnc2 |
A |
C |
4: 84,210,908 (GRCm39) |
L487R |
probably damaging |
Het |
Cacng7 |
T |
C |
7: 3,387,539 (GRCm39) |
S141P |
probably benign |
Het |
Carmil2 |
G |
A |
8: 106,424,663 (GRCm39) |
G1361D |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,386,560 (GRCm39) |
I1907V |
probably benign |
Het |
Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
Cfap73 |
T |
A |
5: 120,770,671 (GRCm39) |
Q33L |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,837,856 (GRCm39) |
|
probably null |
Het |
Cmtm2a |
A |
T |
8: 105,019,418 (GRCm39) |
I57N |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,435,727 (GRCm39) |
D836V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,321,643 (GRCm39) |
V3839A |
possibly damaging |
Het |
Enpp1 |
A |
T |
10: 24,530,817 (GRCm39) |
F546L |
possibly damaging |
Het |
Eps8l2 |
A |
G |
7: 140,940,290 (GRCm39) |
T507A |
probably damaging |
Het |
Erg28 |
C |
T |
12: 85,862,926 (GRCm39) |
E129K |
probably benign |
Het |
Erlec1 |
A |
T |
11: 30,900,591 (GRCm39) |
N153K |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,432,679 (GRCm39) |
E490G |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,003,725 (GRCm39) |
R1815C |
probably damaging |
Het |
Galnt1 |
T |
G |
18: 24,397,577 (GRCm39) |
I226S |
possibly damaging |
Het |
Ifnl2 |
T |
A |
7: 28,209,614 (GRCm39) |
I58F |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,245,572 (GRCm39) |
N554D |
probably benign |
Het |
Kcna10 |
A |
G |
3: 107,102,394 (GRCm39) |
I342V |
probably benign |
Het |
Kif6 |
G |
A |
17: 50,139,210 (GRCm39) |
E561K |
probably damaging |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lpar2 |
G |
T |
8: 70,276,385 (GRCm39) |
R58L |
probably damaging |
Het |
Macrod2 |
A |
G |
2: 140,260,809 (GRCm39) |
T27A |
possibly damaging |
Het |
Mfsd2a |
A |
T |
4: 122,843,120 (GRCm39) |
V387D |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,050,262 (GRCm39) |
T231S |
probably benign |
Het |
Or4a70 |
A |
T |
2: 89,323,812 (GRCm39) |
N281K |
probably damaging |
Het |
Or52n5 |
A |
T |
7: 104,587,966 (GRCm39) |
T78S |
probably benign |
Het |
Or5aq1b |
A |
T |
2: 86,901,756 (GRCm39) |
C241S |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,809,044 (GRCm39) |
V32A |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pde10a |
A |
T |
17: 9,160,024 (GRCm39) |
I432F |
probably damaging |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Pomt1 |
G |
A |
2: 32,133,517 (GRCm39) |
G218R |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,055,837 (GRCm39) |
L183* |
probably null |
Het |
Pramel22 |
A |
T |
4: 143,381,205 (GRCm39) |
C273S |
probably damaging |
Het |
Prdm5 |
C |
T |
6: 65,904,974 (GRCm39) |
T157I |
possibly damaging |
Het |
Psen2 |
T |
A |
1: 180,068,491 (GRCm39) |
E54V |
probably benign |
Het |
Ptpn13 |
C |
A |
5: 103,702,686 (GRCm39) |
H1217Q |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,376,484 (GRCm39) |
S1306P |
probably damaging |
Het |
Ptpru |
G |
T |
4: 131,565,401 (GRCm39) |
P23T |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,434,057 (GRCm39) |
E626G |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,312,622 (GRCm39) |
M1191K |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,314,803 (GRCm39) |
N1086I |
probably benign |
Het |
Sgms2 |
A |
T |
3: 131,129,866 (GRCm39) |
M174K |
probably damaging |
Het |
Skor1 |
T |
A |
9: 63,053,346 (GRCm39) |
I180F |
probably damaging |
Het |
Slit2 |
T |
G |
5: 48,416,958 (GRCm39) |
C1003W |
probably damaging |
Het |
Tbc1d2b |
T |
A |
9: 90,104,462 (GRCm39) |
Q560L |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,598,530 (GRCm39) |
I51V |
probably benign |
Het |
Tmem203 |
T |
C |
2: 25,146,085 (GRCm39) |
V135A |
probably benign |
Het |
Tns1 |
T |
C |
1: 73,967,138 (GRCm39) |
T1212A |
probably benign |
Het |
Trgv5 |
T |
G |
13: 19,376,695 (GRCm39) |
H47Q |
probably benign |
Het |
Trim2 |
G |
A |
3: 84,075,029 (GRCm39) |
A697V |
probably damaging |
Het |
Ubxn4 |
T |
C |
1: 128,186,677 (GRCm39) |
S37P |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,600,716 (GRCm39) |
I671M |
possibly damaging |
Het |
Vwce |
C |
A |
19: 10,624,431 (GRCm39) |
D414E |
probably benign |
Het |
Zfp397 |
T |
C |
18: 24,093,249 (GRCm39) |
S245P |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,984,579 (GRCm39) |
H174Q |
possibly damaging |
Het |
Zfp809 |
T |
A |
9: 22,150,227 (GRCm39) |
Y241* |
probably null |
Het |
Zfp995 |
C |
T |
17: 22,101,010 (GRCm39) |
C29Y |
probably benign |
Het |
Zfta |
A |
G |
19: 7,400,161 (GRCm39) |
E209G |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,320,147 (GRCm39) |
D1066G |
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 |
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 |
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'- TGAATTCTTCTCTGGTCTCAACAAG -3'
(R):5'- CTATCTGCACCCTGATCCAG -3'
Sequencing Primer
(F):5'- CAAGATAATGTAACACTTGGGACC -3'
(R):5'- GTGGAATATGGATGACAACTTCTCC -3'
|
Posted On |
2017-01-03 |