Incidental Mutation 'R1175:Vmn2r72'
| ID |
99950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r72
|
| Ensembl Gene |
ENSMUSG00000051877 |
| Gene Name |
vomeronasal 2, receptor 72 |
| Synonyms |
EG244114, Vmn2r72-ps |
| MMRRC Submission |
039248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1175 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85386992-85404189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85401152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 89
(E89V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063425]
|
| AlphaFold |
D3Z4N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063425
AA Change: E89V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133014
Gene: ENSMUSG00000051877
AA Change: E89V
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 88.0%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,508,325 (GRCm39) |
E1070G |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Anapc1 |
C |
A |
2: 128,522,108 (GRCm39) |
C150F |
probably damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,439,023 (GRCm39) |
|
probably benign |
Het |
| Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
| C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cntnap5c |
C |
A |
17: 58,671,241 (GRCm39) |
T1143K |
possibly damaging |
Het |
| Col7a1 |
A |
C |
9: 108,784,402 (GRCm39) |
T137P |
unknown |
Het |
| Defb8 |
C |
T |
8: 19,495,910 (GRCm39) |
G50E |
probably damaging |
Het |
| Dimt1 |
T |
A |
13: 107,086,193 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
| Eci2 |
G |
T |
13: 35,177,087 (GRCm39) |
N24K |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
| Fbxw11 |
T |
C |
11: 32,661,922 (GRCm39) |
C121R |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,511,471 (GRCm39) |
R458L |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm19965 |
T |
A |
1: 116,748,550 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,927,195 (GRCm39) |
I240V |
probably benign |
Het |
| Jakmip3 |
A |
G |
7: 138,629,515 (GRCm39) |
D552G |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,577,011 (GRCm39) |
E768G |
possibly damaging |
Het |
| Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,977 (GRCm39) |
|
probably benign |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,651,956 (GRCm39) |
E342G |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,868,622 (GRCm39) |
L515P |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,502,166 (GRCm39) |
D985G |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,453,739 (GRCm39) |
V191A |
possibly damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Psmd8 |
A |
T |
7: 28,875,598 (GRCm39) |
Y174N |
probably damaging |
Het |
| Ptgdr2 |
C |
A |
19: 10,918,292 (GRCm39) |
R270S |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 156,975,218 (GRCm39) |
M1172T |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,997,640 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,954,572 (GRCm39) |
R48H |
probably benign |
Het |
| Rsrc1 |
T |
C |
3: 67,263,551 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
| Sis |
A |
G |
3: 72,865,437 (GRCm39) |
|
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,981,793 (GRCm39) |
M246T |
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,070,997 (GRCm39) |
R1093S |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,141 (GRCm39) |
N471D |
possibly damaging |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,389,703 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
G |
A |
14: 20,718,235 (GRCm39) |
T10I |
possibly damaging |
Het |
| Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
| Tent4b |
T |
A |
8: 88,978,635 (GRCm39) |
F445L |
probably damaging |
Het |
| Terb1 |
G |
A |
8: 105,210,938 (GRCm39) |
T363I |
probably benign |
Het |
| Timd4 |
C |
T |
11: 46,708,498 (GRCm39) |
P175S |
probably damaging |
Het |
| Tlr3 |
C |
A |
8: 45,850,171 (GRCm39) |
V833L |
probably damaging |
Het |
| Tpst2 |
T |
A |
5: 112,455,911 (GRCm39) |
M150K |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 125,543,774 (GRCm39) |
V378E |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Uimc1 |
G |
A |
13: 55,176,415 (GRCm39) |
T701I |
possibly damaging |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,621 (GRCm39) |
S160P |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
| Zfp457 |
G |
A |
13: 67,441,748 (GRCm39) |
P180S |
probably damaging |
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 |
|
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 |
|
R2861: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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation