Incidental Mutation 'R7164:Vmn2r75'
ID |
557803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r75
|
Ensembl Gene |
ENSMUSG00000090436 |
Gene Name |
vomeronasal 2, receptor 75 |
Synonyms |
EG546981 |
MMRRC Submission |
045331-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7164 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
85797250-85820932 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 85814592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 300
(D300E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167830]
|
AlphaFold |
G5E8Z7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167830
AA Change: D300E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126973 Gene: ENSMUSG00000090436 AA Change: D300E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
Mast1 |
T |
C |
8: 85,661,933 (GRCm39) |
D63G |
possibly damaging |
Het |
Mtf2 |
T |
A |
5: 108,241,235 (GRCm39) |
S254T |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
Pde4d |
A |
G |
13: 109,169,222 (GRCm39) |
D88G |
probably benign |
Het |
Pld5 |
A |
T |
1: 176,041,187 (GRCm39) |
M1K |
probably null |
Het |
Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
possibly 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 |
R6299:Vmn2r75
|
UTSW |
7 |
85,814,482 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
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'- TTACAATTAGACGGTGGCAAAGAAC -3'
(R):5'- CACATTGTCTGTTTATCAGTTGCG -3'
Sequencing Primer
(F):5'- GGCAAAGAACATGTAAAATATGTCC -3'
(R):5'- TTATCCAAACTGAGAAGTTCATGGCC -3'
|
Posted On |
2019-06-26 |