Incidental Mutation 'R7174:Vmn2r53'
| ID |
558488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
045266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12581470-12606544 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12581701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 730
(H730Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170412
AA Change: H730Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: H730Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
A |
5: 145,044,817 (GRCm38) |
A154E |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,799,172 (GRCm38) |
A419S |
probably benign |
Het |
| Arap2 |
C |
G |
5: 62,604,278 (GRCm38) |
V1702L |
probably benign |
Het |
| Arpc1a |
C |
T |
5: 145,097,277 (GRCm38) |
P152S |
probably benign |
Het |
| Bbs10 |
T |
A |
10: 111,300,767 (GRCm38) |
C580* |
probably null |
Het |
| Bcam |
A |
G |
7: 19,765,451 (GRCm38) |
Y216H |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,432,198 (GRCm38) |
S1016P |
|
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,098,691 (GRCm38) |
|
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,606,555 (GRCm38) |
|
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,757,914 (GRCm38) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,589,067 (GRCm38) |
V666A |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,165,344 (GRCm38) |
F1021L |
probably benign |
Het |
| Cr1l |
C |
T |
1: 195,129,189 (GRCm38) |
G119D |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,715,406 (GRCm38) |
H8L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,755,577 (GRCm38) |
|
probably null |
Het |
| Frem1 |
G |
T |
4: 82,922,256 (GRCm38) |
T1811N |
probably benign |
Het |
| Fsd1 |
A |
T |
17: 55,991,356 (GRCm38) |
Q227L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,896,701 (GRCm38) |
I138M |
probably damaging |
Het |
| Gm5152 |
T |
C |
5: 10,245,270 (GRCm38) |
K56E |
probably damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,117,598 (GRCm38) |
V7A |
possibly damaging |
Het |
| Katnb1 |
G |
A |
8: 95,097,441 (GRCm38) |
A450T |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,521,257 (GRCm38) |
E1465V |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,335,978 (GRCm38) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,189,077 (GRCm38) |
|
probably benign |
Het |
| Lepr |
A |
G |
4: 101,750,338 (GRCm38) |
N251S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,433,072 (GRCm38) |
M4379V |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,224,965 (GRCm38) |
N92S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,926,256 (GRCm38) |
N855S |
probably damaging |
Het |
| Marf1 |
T |
A |
16: 14,136,953 (GRCm38) |
D900V |
probably damaging |
Het |
| Nckap5l |
A |
T |
15: 99,424,003 (GRCm38) |
M1087K |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,385,297 (GRCm38) |
N286D |
probably benign |
Het |
| Olfr1009 |
C |
T |
2: 85,721,953 (GRCm38) |
P183S |
possibly damaging |
Het |
| Olfr159 |
C |
T |
4: 43,770,691 (GRCm38) |
A107T |
not run |
Het |
| Olfr497 |
T |
A |
7: 108,423,160 (GRCm38) |
S196R |
probably benign |
Het |
| Olfr533 |
T |
C |
7: 140,467,163 (GRCm38) |
*321Q |
probably null |
Het |
| Olfr615 |
A |
T |
7: 103,561,391 (GRCm38) |
R305* |
probably null |
Het |
| Olfr730 |
T |
C |
14: 50,186,696 (GRCm38) |
I175V |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,675,927 (GRCm38) |
T478A |
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,066,515 (GRCm38) |
I385T |
probably benign |
Het |
| Poteg |
C |
T |
8: 27,453,277 (GRCm38) |
R192W |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,225,339 (GRCm38) |
D104E |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 33,934,990 (GRCm38) |
F457L |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,377,342 (GRCm38) |
N190S |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,801,177 (GRCm38) |
D641G |
possibly damaging |
Het |
| Sh3gl1 |
A |
T |
17: 56,017,846 (GRCm38) |
M303K |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 21,813,894 (GRCm38) |
V649A |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,837,598 (GRCm38) |
N376D |
possibly damaging |
Het |
| Socs3 |
A |
T |
11: 117,967,727 (GRCm38) |
Y168* |
probably null |
Het |
| Spata31d1d |
A |
T |
13: 59,728,580 (GRCm38) |
N380K |
possibly damaging |
Het |
| Ssbp3 |
A |
G |
4: 107,037,646 (GRCm38) |
N254S |
probably benign |
Het |
| Stard10 |
C |
T |
7: 101,346,019 (GRCm38) |
S326L |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 55,048,739 (GRCm38) |
D524G |
possibly damaging |
Het |
| Taf7 |
A |
T |
18: 37,643,000 (GRCm38) |
S171R |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,446,171 (GRCm38) |
R973C |
unknown |
Het |
| Tmem67 |
T |
C |
4: 12,077,337 (GRCm38) |
R172G |
possibly damaging |
Het |
| Top2a |
C |
A |
11: 99,024,096 (GRCm38) |
|
probably benign |
Het |
| Ttc8 |
T |
A |
12: 98,974,701 (GRCm38) |
N323K |
possibly damaging |
Het |
| Txnl1 |
T |
C |
18: 63,671,596 (GRCm38) |
N276D |
probably benign |
Het |
| Usp24 |
T |
G |
4: 106,362,681 (GRCm38) |
|
probably null |
Het |
| Vmn1r18 |
A |
C |
6: 57,389,624 (GRCm38) |
|
probably null |
Het |
| Wnk1 |
A |
C |
6: 119,970,978 (GRCm38) |
I500M |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,902,503 (GRCm38) |
Y451N |
probably damaging |
Het |
| Zfp683 |
T |
A |
4: 134,055,753 (GRCm38) |
I176N |
probably damaging |
Het |
|
| Other mutations in Vmn2r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r53
|
APN |
7 |
12,600,908 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01997:Vmn2r53
|
APN |
7 |
12,582,446 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL02442:Vmn2r53
|
APN |
7 |
12,581,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02449:Vmn2r53
|
APN |
7 |
12,582,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02589:Vmn2r53
|
APN |
7 |
12,581,945 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02986:Vmn2r53
|
APN |
7 |
12,581,466 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03064:Vmn2r53
|
APN |
7 |
12,601,010 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03093:Vmn2r53
|
APN |
7 |
12,600,864 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03244:Vmn2r53
|
APN |
7 |
12,606,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03252:Vmn2r53
|
APN |
7 |
12,606,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03264:Vmn2r53
|
APN |
7 |
12,581,892 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Vmn2r53
|
APN |
7 |
12,598,422 (GRCm38) |
missense |
probably benign |
0.34 |
|
R0109:Vmn2r53
|
UTSW |
7 |
12,582,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0453:Vmn2r53
|
UTSW |
7 |
12,582,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0735:Vmn2r53
|
UTSW |
7 |
12,581,780 (GRCm38) |
missense |
probably benign |
|
|
R0881:Vmn2r53
|
UTSW |
7 |
12,600,932 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0894:Vmn2r53
|
UTSW |
7 |
12,601,214 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,601,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,601,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0974:Vmn2r53
|
UTSW |
7 |
12,601,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0990:Vmn2r53
|
UTSW |
7 |
12,581,502 (GRCm38) |
missense |
probably benign |
|
|
R1102:Vmn2r53
|
UTSW |
7 |
12,598,483 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1141:Vmn2r53
|
UTSW |
7 |
12,600,746 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1263:Vmn2r53
|
UTSW |
7 |
12,581,606 (GRCm38) |
missense |
probably benign |
0.41 |
|
R1343:Vmn2r53
|
UTSW |
7 |
12,584,774 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1750:Vmn2r53
|
UTSW |
7 |
12,581,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1836:Vmn2r53
|
UTSW |
7 |
12,600,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2035:Vmn2r53
|
UTSW |
7 |
12,598,511 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2202:Vmn2r53
|
UTSW |
7 |
12,601,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3707:Vmn2r53
|
UTSW |
7 |
12,582,054 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4372:Vmn2r53
|
UTSW |
7 |
12,581,729 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4615:Vmn2r53
|
UTSW |
7 |
12,582,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4655:Vmn2r53
|
UTSW |
7 |
12,582,005 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4663:Vmn2r53
|
UTSW |
7 |
12,600,974 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4708:Vmn2r53
|
UTSW |
7 |
12,601,202 (GRCm38) |
missense |
probably benign |
|
|
R4710:Vmn2r53
|
UTSW |
7 |
12,601,202 (GRCm38) |
missense |
probably benign |
|
|
R4774:Vmn2r53
|
UTSW |
7 |
12,600,765 (GRCm38) |
nonsense |
probably null |
|
|
R4859:Vmn2r53
|
UTSW |
7 |
12,601,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5061:Vmn2r53
|
UTSW |
7 |
12,581,814 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5561:Vmn2r53
|
UTSW |
7 |
12,601,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5729:Vmn2r53
|
UTSW |
7 |
12,600,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r53
|
UTSW |
7 |
12,582,401 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6083:Vmn2r53
|
UTSW |
7 |
12,581,881 (GRCm38) |
missense |
probably benign |
|
|
R6312:Vmn2r53
|
UTSW |
7 |
12,598,639 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6700:Vmn2r53
|
UTSW |
7 |
12,581,706 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6783:Vmn2r53
|
UTSW |
7 |
12,601,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn2r53
|
UTSW |
7 |
12,606,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6889:Vmn2r53
|
UTSW |
7 |
12,601,142 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6940:Vmn2r53
|
UTSW |
7 |
12,582,416 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7100:Vmn2r53
|
UTSW |
7 |
12,581,586 (GRCm38) |
nonsense |
probably null |
|
|
R7213:Vmn2r53
|
UTSW |
7 |
12,601,056 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7276:Vmn2r53
|
UTSW |
7 |
12,606,432 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7515:Vmn2r53
|
UTSW |
7 |
12,581,919 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7678:Vmn2r53
|
UTSW |
7 |
12,598,498 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7714:Vmn2r53
|
UTSW |
7 |
12,606,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r53
|
UTSW |
7 |
12,582,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8208:Vmn2r53
|
UTSW |
7 |
12,601,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn2r53
|
UTSW |
7 |
12,581,916 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8478:Vmn2r53
|
UTSW |
7 |
12,606,354 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8853:Vmn2r53
|
UTSW |
7 |
12,581,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8924:Vmn2r53
|
UTSW |
7 |
12,600,825 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8963:Vmn2r53
|
UTSW |
7 |
12,581,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9042:Vmn2r53
|
UTSW |
7 |
12,581,508 (GRCm38) |
missense |
probably benign |
|
|
R9076:Vmn2r53
|
UTSW |
7 |
12,606,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9407:Vmn2r53
|
UTSW |
7 |
12,601,197 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9690:Vmn2r53
|
UTSW |
7 |
12,581,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r53
|
UTSW |
7 |
12,601,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCTATTGTGCTGTACCTG -3'
(R):5'- GACAGGGATATGATCTCAGAGCC -3'
Sequencing Primer
(F):5'- CTGTACCTGGTGGCCTTGC -3'
(R):5'- TGTCATCCAATGCCATGAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation