Incidental Mutation 'R6299:Vmn2r75'
ID |
508969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r75
|
Ensembl Gene |
ENSMUSG00000090436 |
Gene Name |
vomeronasal 2, receptor 75 |
Synonyms |
EG546981 |
MMRRC Submission |
044465-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6299 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
85797250-85820932 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85814482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 337
(H337L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167830]
|
AlphaFold |
G5E8Z7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167830
AA Change: H337L
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000126973 Gene: ENSMUSG00000090436 AA Change: H337L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
80 |
466 |
2.8e-31 |
PFAM |
Pfam:NCD3G
|
510 |
562 |
4.6e-20 |
PFAM |
Pfam:7tm_3
|
593 |
829 |
7.7e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bms1 |
G |
A |
6: 118,395,476 (GRCm39) |
R24W |
probably damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,126 (GRCm39) |
S60C |
probably damaging |
Het |
Cabcoco1 |
A |
G |
10: 68,272,720 (GRCm39) |
Y222H |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,485,335 (GRCm39) |
V559A |
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,077,647 (GRCm39) |
N46K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,464,275 (GRCm39) |
D114G |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,138,034 (GRCm39) |
L279F |
probably damaging |
Het |
Cr2 |
T |
C |
1: 194,850,954 (GRCm39) |
T151A |
probably damaging |
Het |
Creb3l3 |
C |
T |
10: 80,924,447 (GRCm39) |
E236K |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,618,599 (GRCm39) |
V336D |
probably damaging |
Het |
Dop1a |
T |
G |
9: 86,386,265 (GRCm39) |
F379V |
probably damaging |
Het |
Esf1 |
T |
C |
2: 139,965,554 (GRCm39) |
K714R |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,388,513 (GRCm39) |
M1L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,121 (GRCm39) |
R354G |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,735,855 (GRCm39) |
L535P |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,731,066 (GRCm39) |
T12A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Golga4 |
T |
A |
9: 118,386,438 (GRCm39) |
S1187T |
probably benign |
Het |
Haus3 |
A |
G |
5: 34,325,140 (GRCm39) |
V173A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,272,016 (GRCm39) |
Y2566C |
probably damaging |
Het |
Inpp5f |
A |
T |
7: 128,237,884 (GRCm39) |
T34S |
possibly damaging |
Het |
Iqck |
G |
A |
7: 118,475,485 (GRCm39) |
G70S |
unknown |
Het |
Jade1 |
T |
C |
3: 41,568,160 (GRCm39) |
F743L |
probably damaging |
Het |
Kif5a |
T |
C |
10: 127,069,690 (GRCm39) |
K845R |
probably damaging |
Het |
Klhl30 |
A |
G |
1: 91,285,636 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
C |
9: 64,121,772 (GRCm39) |
D67G |
possibly damaging |
Het |
Mcm9 |
A |
C |
10: 53,413,777 (GRCm39) |
C434W |
probably damaging |
Het |
Muc4 |
T |
G |
16: 32,570,853 (GRCm39) |
S638A |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,345 (GRCm39) |
V113A |
probably damaging |
Het |
Nfya |
T |
C |
17: 48,699,938 (GRCm39) |
|
probably benign |
Het |
Nup155 |
G |
T |
15: 8,157,922 (GRCm39) |
A460S |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,051,270 (GRCm39) |
E371G |
possibly damaging |
Het |
Olfm3 |
T |
C |
3: 114,914,632 (GRCm39) |
S228P |
probably damaging |
Het |
Or52n20 |
C |
A |
7: 104,320,075 (GRCm39) |
D55E |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Plin1 |
A |
C |
7: 79,371,224 (GRCm39) |
V500G |
probably benign |
Het |
Ppfia1 |
A |
C |
7: 144,064,049 (GRCm39) |
M513R |
probably benign |
Het |
Ppp1cb |
T |
A |
5: 32,640,798 (GRCm39) |
C27* |
probably null |
Het |
Prss22 |
T |
A |
17: 24,215,408 (GRCm39) |
I123F |
probably damaging |
Het |
Rbm24 |
G |
T |
13: 46,572,549 (GRCm39) |
V15L |
probably damaging |
Het |
Reln |
T |
C |
5: 22,491,942 (GRCm39) |
T97A |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,180,203 (GRCm39) |
T1065A |
possibly damaging |
Het |
Sipa1l3 |
A |
C |
7: 29,065,974 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
A |
2: 127,064,081 (GRCm39) |
Y689* |
probably null |
Het |
Srcap |
T |
C |
7: 127,129,626 (GRCm39) |
|
probably benign |
Het |
Sv2a |
T |
C |
3: 96,095,565 (GRCm39) |
|
probably null |
Het |
Tcf12 |
A |
T |
9: 71,766,211 (GRCm39) |
V474D |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,815,980 (GRCm39) |
S403T |
probably damaging |
Het |
Trim65 |
C |
A |
11: 116,017,377 (GRCm39) |
A362S |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,423,919 (GRCm39) |
C36* |
probably null |
Het |
Trpm8 |
T |
A |
1: 88,282,201 (GRCm39) |
L699Q |
probably damaging |
Het |
Ube2m |
A |
C |
7: 12,769,797 (GRCm39) |
I116R |
probably damaging |
Het |
Ulk1 |
T |
C |
5: 110,938,963 (GRCm39) |
K492E |
possibly damaging |
Het |
Usp40 |
T |
A |
1: 87,925,649 (GRCm39) |
K193N |
probably damaging |
Het |
Vmn1r3 |
A |
G |
4: 3,185,098 (GRCm39) |
S70P |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,024,074 (GRCm39) |
K836* |
probably null |
Het |
Wars1 |
G |
A |
12: 108,827,309 (GRCm39) |
T437M |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,520,825 (GRCm39) |
T451A |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,297,965 (GRCm39) |
H180Q |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,717,782 (GRCm39) |
E59G |
probably damaging |
Het |
|
Other mutations in Vmn2r75 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Vmn2r75
|
APN |
7 |
85,797,240 (GRCm39) |
unclassified |
probably benign |
|
IGL01287:Vmn2r75
|
APN |
7 |
85,797,801 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01318:Vmn2r75
|
APN |
7 |
85,814,774 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01331:Vmn2r75
|
APN |
7 |
85,820,870 (GRCm39) |
nonsense |
probably null |
|
IGL01406:Vmn2r75
|
APN |
7 |
85,812,500 (GRCm39) |
splice site |
probably benign |
|
IGL01615:Vmn2r75
|
APN |
7 |
85,797,681 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01657:Vmn2r75
|
APN |
7 |
85,813,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Vmn2r75
|
APN |
7 |
85,814,786 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02275:Vmn2r75
|
APN |
7 |
85,814,348 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02307:Vmn2r75
|
APN |
7 |
85,814,974 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03136:Vmn2r75
|
APN |
7 |
85,797,911 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03160:Vmn2r75
|
APN |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03244:Vmn2r75
|
APN |
7 |
85,820,933 (GRCm39) |
unclassified |
probably benign |
|
PIT4449001:Vmn2r75
|
UTSW |
7 |
85,814,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
R0083:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0108:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Vmn2r75
|
UTSW |
7 |
85,797,515 (GRCm39) |
missense |
probably benign |
0.01 |
R0320:Vmn2r75
|
UTSW |
7 |
85,814,288 (GRCm39) |
missense |
probably benign |
0.36 |
R0471:Vmn2r75
|
UTSW |
7 |
85,814,721 (GRCm39) |
missense |
probably benign |
0.01 |
R0562:Vmn2r75
|
UTSW |
7 |
85,797,449 (GRCm39) |
nonsense |
probably null |
|
R0631:Vmn2r75
|
UTSW |
7 |
85,812,478 (GRCm39) |
missense |
probably null |
1.00 |
R0661:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
R0811:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
R0812:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
R0891:Vmn2r75
|
UTSW |
7 |
85,813,476 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1340:Vmn2r75
|
UTSW |
7 |
85,797,798 (GRCm39) |
missense |
probably damaging |
0.98 |
R1501:Vmn2r75
|
UTSW |
7 |
85,814,850 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1760:Vmn2r75
|
UTSW |
7 |
85,798,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Vmn2r75
|
UTSW |
7 |
85,797,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Vmn2r75
|
UTSW |
7 |
85,814,372 (GRCm39) |
missense |
probably benign |
0.00 |
R2292:Vmn2r75
|
UTSW |
7 |
85,798,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Vmn2r75
|
UTSW |
7 |
85,797,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R3892:Vmn2r75
|
UTSW |
7 |
85,813,494 (GRCm39) |
missense |
probably null |
1.00 |
R4532:Vmn2r75
|
UTSW |
7 |
85,797,349 (GRCm39) |
nonsense |
probably null |
|
R4583:Vmn2r75
|
UTSW |
7 |
85,813,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4592:Vmn2r75
|
UTSW |
7 |
85,815,494 (GRCm39) |
missense |
probably benign |
0.00 |
R4792:Vmn2r75
|
UTSW |
7 |
85,812,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4859:Vmn2r75
|
UTSW |
7 |
85,797,611 (GRCm39) |
missense |
probably benign |
0.35 |
R4896:Vmn2r75
|
UTSW |
7 |
85,820,787 (GRCm39) |
missense |
probably benign |
0.01 |
R4943:Vmn2r75
|
UTSW |
7 |
85,814,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably null |
|
R5048:Vmn2r75
|
UTSW |
7 |
85,814,735 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5063:Vmn2r75
|
UTSW |
7 |
85,813,372 (GRCm39) |
missense |
probably benign |
|
R5156:Vmn2r75
|
UTSW |
7 |
85,813,436 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5243:Vmn2r75
|
UTSW |
7 |
85,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R5277:Vmn2r75
|
UTSW |
7 |
85,815,500 (GRCm39) |
missense |
probably benign |
|
R5574:Vmn2r75
|
UTSW |
7 |
85,815,510 (GRCm39) |
missense |
probably benign |
0.22 |
R5622:Vmn2r75
|
UTSW |
7 |
85,797,702 (GRCm39) |
missense |
probably benign |
0.15 |
R5680:Vmn2r75
|
UTSW |
7 |
85,820,779 (GRCm39) |
missense |
probably benign |
0.10 |
R5884:Vmn2r75
|
UTSW |
7 |
85,814,578 (GRCm39) |
missense |
probably benign |
|
R6021:Vmn2r75
|
UTSW |
7 |
85,820,820 (GRCm39) |
missense |
probably benign |
0.01 |
R6217:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably benign |
|
R6242:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6441:Vmn2r75
|
UTSW |
7 |
85,820,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R6495:Vmn2r75
|
UTSW |
7 |
85,813,287 (GRCm39) |
missense |
probably benign |
0.00 |
R6553:Vmn2r75
|
UTSW |
7 |
85,813,453 (GRCm39) |
missense |
probably benign |
0.28 |
R6670:Vmn2r75
|
UTSW |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Vmn2r75
|
UTSW |
7 |
85,815,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R8411:Vmn2r75
|
UTSW |
7 |
85,797,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R8507:Vmn2r75
|
UTSW |
7 |
85,797,685 (GRCm39) |
nonsense |
probably null |
|
R8559:Vmn2r75
|
UTSW |
7 |
85,815,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8677:Vmn2r75
|
UTSW |
7 |
85,814,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8708:Vmn2r75
|
UTSW |
7 |
85,812,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R8778:Vmn2r75
|
UTSW |
7 |
85,813,497 (GRCm39) |
missense |
probably benign |
0.40 |
R8968:Vmn2r75
|
UTSW |
7 |
85,820,765 (GRCm39) |
nonsense |
probably null |
|
R9145:Vmn2r75
|
UTSW |
7 |
85,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Vmn2r75
|
UTSW |
7 |
85,797,313 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9363:Vmn2r75
|
UTSW |
7 |
85,815,423 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGTCCCAGCATTTGTTGAC -3'
(R):5'- CCCTCATTATGTGGAAATCTGAAGG -3'
Sequencing Primer
(F):5'- CCATATGTCTACTTGTTGCAGAAGC -3'
(R):5'- ATCTGAAGGCATTTGGAGAATCTG -3'
|
Posted On |
2018-04-02 |