Incidental Mutation 'R6242:Vmn2r75'
| ID |
505294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r75
|
| Ensembl Gene |
ENSMUSG00000090436 |
| Gene Name |
vomeronasal 2, receptor 75 |
| Synonyms |
EG546981 |
| MMRRC Submission |
044434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6242 (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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
| Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
| Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
| Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
| Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
| Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
| Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
| Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
| Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
| Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
| Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
| Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
| Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
| Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
| Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
| Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
| Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
| Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
| Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
| Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
| Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
| Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
| Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
| Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
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 |
|
|
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 |
|
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'- GCTTCTTACAATTAGACGGTGGC -3'
(R):5'- ACACATTGTCTGTTTATCAGTTGCG -3'
Sequencing Primer
(F):5'- CTTACAATTAGACGGTGGCAAAGAAC -3'
(R):5'- TTATCCAAACTGAGAAGTTCATGGCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation