Incidental Mutation 'R2861:Vmn2r72'
ID |
252718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r72
|
Ensembl Gene |
ENSMUSG00000051877 |
Gene Name |
vomeronasal 2, receptor 72 |
Synonyms |
EG244114, Vmn2r72-ps |
MMRRC Submission |
040451-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
85386992-85404189 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85400044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 335
(I335N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063425]
|
AlphaFold |
D3Z4N8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063425
AA Change: I335N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133014 Gene: ENSMUSG00000051877 AA Change: I335N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
82 |
469 |
2.3e-28 |
PFAM |
Pfam:NCD3G
|
512 |
564 |
1.2e-18 |
PFAM |
Pfam:7tm_3
|
594 |
832 |
4e-53 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
Abcc9 |
C |
T |
6: 142,571,736 (GRCm39) |
V1131M |
probably benign |
Het |
Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
Ano1 |
C |
T |
7: 144,143,749 (GRCm39) |
G1011E |
probably damaging |
Het |
Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,961,785 (GRCm39) |
W2386R |
probably damaging |
Het |
Asph |
T |
C |
4: 9,598,277 (GRCm39) |
D250G |
probably damaging |
Het |
Atr |
A |
G |
9: 95,756,296 (GRCm39) |
N836S |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,019,998 (GRCm39) |
S2079N |
probably damaging |
Het |
Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
C2 |
T |
C |
17: 35,082,854 (GRCm39) |
T471A |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,953,732 (GRCm39) |
S959C |
probably damaging |
Het |
Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,300,485 (GRCm39) |
|
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,775 (GRCm39) |
S130G |
probably damaging |
Het |
Cd8b1 |
A |
G |
6: 71,311,085 (GRCm39) |
R202G |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
T |
1: 67,205,534 (GRCm39) |
E519V |
probably benign |
Het |
Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
Cyp3a16 |
A |
T |
5: 145,392,309 (GRCm39) |
Y215* |
probably null |
Het |
Dennd10 |
T |
C |
19: 60,803,232 (GRCm39) |
S80P |
probably benign |
Het |
F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
Gab1 |
T |
C |
8: 81,511,382 (GRCm39) |
M488V |
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gbx2 |
C |
T |
1: 89,856,853 (GRCm39) |
R179Q |
probably damaging |
Het |
Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,654,664 (GRCm39) |
D72G |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
Hsd3b7 |
T |
G |
7: 127,401,442 (GRCm39) |
L189R |
probably damaging |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,537,717 (GRCm39) |
V494A |
possibly damaging |
Het |
Inka1 |
T |
C |
9: 107,861,603 (GRCm39) |
T238A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,750,315 (GRCm39) |
|
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,179 (GRCm39) |
K487R |
probably benign |
Het |
Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
Klhdc10 |
G |
A |
6: 30,402,139 (GRCm39) |
R48H |
unknown |
Het |
Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,829,040 (GRCm39) |
T2034A |
probably benign |
Het |
Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
Or4f56 |
G |
T |
2: 111,703,818 (GRCm39) |
C127* |
probably null |
Het |
Or5p66 |
A |
G |
7: 107,886,169 (GRCm39) |
S55P |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Parp16 |
G |
T |
9: 65,141,086 (GRCm39) |
D219Y |
probably damaging |
Het |
Pitpnm2 |
G |
C |
5: 124,259,500 (GRCm39) |
H1224Q |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,784,420 (GRCm39) |
T322I |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,413,668 (GRCm39) |
D319G |
probably damaging |
Het |
Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,503,227 (GRCm39) |
F653I |
probably benign |
Het |
Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,607,979 (GRCm39) |
E876G |
probably damaging |
Het |
Slc25a10 |
G |
A |
11: 120,386,003 (GRCm39) |
V115M |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
Sri |
A |
T |
5: 8,117,540 (GRCm39) |
Q178L |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,365,243 (GRCm39) |
D62E |
probably damaging |
Het |
Tshz1 |
G |
T |
18: 84,033,105 (GRCm39) |
H434Q |
probably damaging |
Het |
Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,696,427 (GRCm39) |
I105T |
possibly damaging |
Het |
Vmn2r6 |
G |
T |
3: 64,454,760 (GRCm39) |
T513N |
probably benign |
Het |
Wiz |
G |
T |
17: 32,580,680 (GRCm39) |
T257K |
probably damaging |
Het |
Xirp1 |
T |
C |
9: 119,848,881 (GRCm39) |
M1V |
probably null |
Het |
Xirp1 |
A |
G |
9: 119,847,444 (GRCm39) |
S41P |
probably benign |
Het |
|
Other mutations in Vmn2r72 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00931:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01019:Vmn2r72
|
APN |
7 |
85,387,542 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01445:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02076:Vmn2r72
|
APN |
7 |
85,387,575 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02082:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02086:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02089:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02125:Vmn2r72
|
APN |
7 |
85,399,919 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02146:Vmn2r72
|
APN |
7 |
85,387,170 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Vmn2r72
|
APN |
7 |
85,399,901 (GRCm39) |
missense |
probably benign |
|
IGL02514:Vmn2r72
|
APN |
7 |
85,387,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02662:Vmn2r72
|
APN |
7 |
85,387,391 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02697:Vmn2r72
|
APN |
7 |
85,387,879 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02733:Vmn2r72
|
APN |
7 |
85,401,021 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03070:Vmn2r72
|
APN |
7 |
85,401,249 (GRCm39) |
splice site |
probably benign |
|
IGL03150:Vmn2r72
|
APN |
7 |
85,400,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03159:Vmn2r72
|
APN |
7 |
85,404,162 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03333:Vmn2r72
|
APN |
7 |
85,400,075 (GRCm39) |
missense |
probably benign |
0.10 |
R0081:Vmn2r72
|
UTSW |
7 |
85,401,044 (GRCm39) |
missense |
probably benign |
0.01 |
R0090:Vmn2r72
|
UTSW |
7 |
85,404,084 (GRCm39) |
missense |
probably benign |
|
R0655:Vmn2r72
|
UTSW |
7 |
85,387,319 (GRCm39) |
nonsense |
probably null |
|
R0778:Vmn2r72
|
UTSW |
7 |
85,398,947 (GRCm39) |
missense |
probably benign |
0.00 |
R1169:Vmn2r72
|
UTSW |
7 |
85,400,517 (GRCm39) |
missense |
probably benign |
0.01 |
R1172:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1173:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1248:Vmn2r72
|
UTSW |
7 |
85,398,396 (GRCm39) |
missense |
probably benign |
0.02 |
R1302:Vmn2r72
|
UTSW |
7 |
85,387,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R1506:Vmn2r72
|
UTSW |
7 |
85,398,419 (GRCm39) |
missense |
probably benign |
|
R1632:Vmn2r72
|
UTSW |
7 |
85,401,000 (GRCm39) |
missense |
probably benign |
0.13 |
R1775:Vmn2r72
|
UTSW |
7 |
85,387,378 (GRCm39) |
missense |
probably benign |
0.01 |
R1962:Vmn2r72
|
UTSW |
7 |
85,398,369 (GRCm39) |
missense |
probably benign |
0.00 |
R2201:Vmn2r72
|
UTSW |
7 |
85,387,444 (GRCm39) |
missense |
probably benign |
0.12 |
R2290:Vmn2r72
|
UTSW |
7 |
85,387,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Vmn2r72
|
UTSW |
7 |
85,400,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R2655:Vmn2r72
|
UTSW |
7 |
85,400,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2860:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R2862:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R3009:Vmn2r72
|
UTSW |
7 |
85,398,850 (GRCm39) |
missense |
probably benign |
0.00 |
R3797:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
R3798:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
R3902:Vmn2r72
|
UTSW |
7 |
85,398,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3959:Vmn2r72
|
UTSW |
7 |
85,400,339 (GRCm39) |
missense |
probably benign |
0.36 |
R3974:Vmn2r72
|
UTSW |
7 |
85,399,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4399:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R4421:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Vmn2r72
|
UTSW |
7 |
85,387,036 (GRCm39) |
nonsense |
probably null |
|
R4522:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
R4523:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
R4533:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
R4691:Vmn2r72
|
UTSW |
7 |
85,387,119 (GRCm39) |
nonsense |
probably null |
|
R4781:Vmn2r72
|
UTSW |
7 |
85,387,069 (GRCm39) |
missense |
probably benign |
0.14 |
R4863:Vmn2r72
|
UTSW |
7 |
85,399,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4952:Vmn2r72
|
UTSW |
7 |
85,400,317 (GRCm39) |
missense |
probably benign |
|
R4991:Vmn2r72
|
UTSW |
7 |
85,400,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R4995:Vmn2r72
|
UTSW |
7 |
85,387,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5095:Vmn2r72
|
UTSW |
7 |
85,387,061 (GRCm39) |
missense |
probably damaging |
0.98 |
R5174:Vmn2r72
|
UTSW |
7 |
85,387,048 (GRCm39) |
missense |
probably benign |
0.00 |
R5276:Vmn2r72
|
UTSW |
7 |
85,387,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5395:Vmn2r72
|
UTSW |
7 |
85,400,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5560:Vmn2r72
|
UTSW |
7 |
85,401,150 (GRCm39) |
missense |
probably damaging |
0.96 |
R5933:Vmn2r72
|
UTSW |
7 |
85,387,058 (GRCm39) |
missense |
probably benign |
0.05 |
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Vmn2r72
|
UTSW |
7 |
85,399,747 (GRCm39) |
critical splice donor site |
probably null |
|
R6362:Vmn2r72
|
UTSW |
7 |
85,400,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R6594:Vmn2r72
|
UTSW |
7 |
85,398,892 (GRCm39) |
missense |
probably benign |
0.32 |
R6794:Vmn2r72
|
UTSW |
7 |
85,387,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Vmn2r72
|
UTSW |
7 |
85,399,011 (GRCm39) |
splice site |
probably null |
|
R7189:Vmn2r72
|
UTSW |
7 |
85,404,125 (GRCm39) |
missense |
probably benign |
0.36 |
R7266:Vmn2r72
|
UTSW |
7 |
85,387,482 (GRCm39) |
nonsense |
probably null |
|
R7323:Vmn2r72
|
UTSW |
7 |
85,399,771 (GRCm39) |
missense |
probably benign |
|
R7426:Vmn2r72
|
UTSW |
7 |
85,400,348 (GRCm39) |
missense |
probably benign |
|
R7606:Vmn2r72
|
UTSW |
7 |
85,400,362 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7651:Vmn2r72
|
UTSW |
7 |
85,401,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7688:Vmn2r72
|
UTSW |
7 |
85,404,098 (GRCm39) |
missense |
probably benign |
0.32 |
R7753:Vmn2r72
|
UTSW |
7 |
85,399,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Vmn2r72
|
UTSW |
7 |
85,398,838 (GRCm39) |
missense |
probably benign |
0.01 |
R8157:Vmn2r72
|
UTSW |
7 |
85,400,441 (GRCm39) |
missense |
probably benign |
0.09 |
R8254:Vmn2r72
|
UTSW |
7 |
85,400,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R8389:Vmn2r72
|
UTSW |
7 |
85,401,168 (GRCm39) |
missense |
probably damaging |
0.99 |
R8444:Vmn2r72
|
UTSW |
7 |
85,387,383 (GRCm39) |
missense |
probably benign |
|
R8989:Vmn2r72
|
UTSW |
7 |
85,404,134 (GRCm39) |
missense |
probably benign |
0.10 |
R9015:Vmn2r72
|
UTSW |
7 |
85,398,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9080:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R9269:Vmn2r72
|
UTSW |
7 |
85,400,411 (GRCm39) |
missense |
probably benign |
0.03 |
R9317:Vmn2r72
|
UTSW |
7 |
85,404,022 (GRCm39) |
missense |
probably benign |
0.04 |
R9509:Vmn2r72
|
UTSW |
7 |
85,404,075 (GRCm39) |
missense |
probably benign |
|
Z1176:Vmn2r72
|
UTSW |
7 |
85,398,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGCCACAGCATGTATAG -3'
(R):5'- AGACTATGCCTCTCCCATAGATC -3'
Sequencing Primer
(F):5'- GCCACAGCATGTATAGCATTG -3'
(R):5'- CCATAGATCTTGTCCTCCATTGG -3'
|
Posted On |
2014-12-04 |