Incidental Mutation 'R6709:Vmn2r69'
| ID |
529060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r69
|
| Ensembl Gene |
ENSMUSG00000091006 |
| Gene Name |
vomeronasal 2, receptor 69 |
| Synonyms |
|
| MMRRC Submission |
044827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85055584-85064884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85061069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 172
(N172D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171213]
|
| AlphaFold |
G3XA45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171213
AA Change: N172D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132726
Gene: ENSMUSG00000091006
AA Change: N172D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
465 |
1.3e-28 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
1.8e-20 |
PFAM |
|
Pfam:7tm_3
|
592 |
827 |
3.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207880
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,552,779 (GRCm39) |
D36G |
possibly damaging |
Het |
| Actn1 |
T |
A |
12: 80,240,418 (GRCm39) |
D223V |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,713,917 (GRCm39) |
N201Y |
probably benign |
Het |
| Agbl4 |
T |
A |
4: 111,423,979 (GRCm39) |
|
probably benign |
Het |
| Atg4d |
T |
C |
9: 21,179,944 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,242 (GRCm39) |
T367A |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,229,262 (GRCm39) |
T293A |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,321,577 (GRCm39) |
G977E |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,298,932 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,714,902 (GRCm39) |
|
probably null |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,706 (GRCm39) |
D3492G |
probably damaging |
Het |
| Eepd1 |
A |
T |
9: 25,394,164 (GRCm39) |
T143S |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,940,136 (GRCm39) |
*650W |
probably null |
Het |
| Etv1 |
C |
T |
12: 38,833,796 (GRCm39) |
T19I |
possibly damaging |
Het |
| Fam133b |
T |
C |
5: 3,619,059 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,345 (GRCm39) |
H70R |
probably benign |
Het |
| Galnt11 |
C |
T |
5: 25,453,851 (GRCm39) |
R26C |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,755,884 (GRCm39) |
Y43F |
probably damaging |
Het |
| Gm17409 |
A |
T |
2: 58,361,088 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
A |
G |
7: 38,221,499 (GRCm39) |
I190T |
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,772 (GRCm39) |
S22R |
possibly damaging |
Het |
| Htra1 |
C |
T |
7: 130,537,948 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,221,117 (GRCm39) |
Y753N |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,475,276 (GRCm39) |
T412A |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,158,695 (GRCm39) |
T651I |
unknown |
Het |
| Ltb4r2 |
A |
C |
14: 55,999,990 (GRCm39) |
T204P |
possibly damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,797,885 (GRCm39) |
|
probably null |
Het |
| Mlxip |
A |
T |
5: 123,585,339 (GRCm39) |
I616F |
possibly damaging |
Het |
| Mpz |
A |
T |
1: 170,978,301 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,041,358 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,703,906 (GRCm39) |
L1949P |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,584,009 (GRCm39) |
Y116H |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,862 (GRCm39) |
M68V |
probably benign |
Het |
| Or6s1 |
A |
T |
14: 51,308,286 (GRCm39) |
L188H |
probably damaging |
Het |
| Pde4d |
T |
G |
13: 110,084,813 (GRCm39) |
L470R |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,074 (GRCm39) |
N1013K |
probably benign |
Het |
| Ptpn13 |
A |
C |
5: 103,734,622 (GRCm39) |
Q2118P |
probably benign |
Het |
| Pwwp2a |
C |
G |
11: 43,595,554 (GRCm39) |
L240V |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,979,263 (GRCm39) |
L196P |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,600 (GRCm39) |
N1765I |
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,073,440 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,852,122 (GRCm39) |
M450I |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,001,216 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,526,616 (GRCm39) |
L812Q |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,301,024 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,887 (GRCm39) |
M528K |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,538,122 (GRCm39) |
V82A |
probably benign |
Het |
| Tmem185b |
G |
A |
1: 119,454,604 (GRCm39) |
V122I |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,340,587 (GRCm39) |
D607G |
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,183,262 (GRCm39) |
I186N |
probably damaging |
Het |
| Trp53i11 |
A |
T |
2: 93,030,163 (GRCm39) |
M157L |
probably benign |
Het |
| Ubr3 |
C |
A |
2: 69,843,436 (GRCm39) |
H1559N |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,880,820 (GRCm39) |
E727A |
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,618 (GRCm39) |
R509S |
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,737,557 (GRCm39) |
Y476C |
probably damaging |
Het |
|
| Other mutations in Vmn2r69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Vmn2r69
|
APN |
7 |
85,055,739 (GRCm39) |
missense |
probably benign |
|
|
IGL01457:Vmn2r69
|
APN |
7 |
85,055,836 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01760:Vmn2r69
|
APN |
7 |
85,056,072 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01834:Vmn2r69
|
APN |
7 |
85,061,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Vmn2r69
|
APN |
7 |
85,056,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02057:Vmn2r69
|
APN |
7 |
85,060,990 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02289:Vmn2r69
|
APN |
7 |
85,056,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Vmn2r69
|
APN |
7 |
85,058,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02478:Vmn2r69
|
APN |
7 |
85,055,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02554:Vmn2r69
|
APN |
7 |
85,059,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Vmn2r69
|
APN |
7 |
85,059,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Vmn2r69
|
UTSW |
7 |
85,060,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0560:Vmn2r69
|
UTSW |
7 |
85,058,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0909:Vmn2r69
|
UTSW |
7 |
85,055,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0976:Vmn2r69
|
UTSW |
7 |
85,056,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Vmn2r69
|
UTSW |
7 |
85,059,058 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Vmn2r69
|
UTSW |
7 |
85,055,908 (GRCm39) |
nonsense |
probably null |
|
|
R1482:Vmn2r69
|
UTSW |
7 |
85,056,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Vmn2r69
|
UTSW |
7 |
85,060,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Vmn2r69
|
UTSW |
7 |
85,056,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2108:Vmn2r69
|
UTSW |
7 |
85,059,404 (GRCm39) |
missense |
probably benign |
|
|
R2571:Vmn2r69
|
UTSW |
7 |
85,064,764 (GRCm39) |
missense |
probably benign |
|
|
R2910:Vmn2r69
|
UTSW |
7 |
85,055,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Vmn2r69
|
UTSW |
7 |
85,060,973 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3708:Vmn2r69
|
UTSW |
7 |
85,061,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3710:Vmn2r69
|
UTSW |
7 |
85,055,601 (GRCm39) |
missense |
probably benign |
|
|
R4757:Vmn2r69
|
UTSW |
7 |
85,061,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Vmn2r69
|
UTSW |
7 |
85,060,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4870:Vmn2r69
|
UTSW |
7 |
85,060,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4918:Vmn2r69
|
UTSW |
7 |
85,055,967 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5022:Vmn2r69
|
UTSW |
7 |
85,060,367 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5174:Vmn2r69
|
UTSW |
7 |
85,064,739 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5200:Vmn2r69
|
UTSW |
7 |
85,055,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Vmn2r69
|
UTSW |
7 |
85,060,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5643:Vmn2r69
|
UTSW |
7 |
85,056,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5996:Vmn2r69
|
UTSW |
7 |
85,061,117 (GRCm39) |
splice site |
probably null |
|
|
R6083:Vmn2r69
|
UTSW |
7 |
85,055,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Vmn2r69
|
UTSW |
7 |
85,060,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6306:Vmn2r69
|
UTSW |
7 |
85,064,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6330:Vmn2r69
|
UTSW |
7 |
85,060,835 (GRCm39) |
missense |
probably benign |
|
|
R6380:Vmn2r69
|
UTSW |
7 |
85,061,067 (GRCm39) |
missense |
probably benign |
|
|
R6466:Vmn2r69
|
UTSW |
7 |
85,056,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6542:Vmn2r69
|
UTSW |
7 |
85,060,413 (GRCm39) |
nonsense |
probably null |
|
|
R6583:Vmn2r69
|
UTSW |
7 |
85,059,017 (GRCm39) |
missense |
probably benign |
|
|
R6623:Vmn2r69
|
UTSW |
7 |
85,056,309 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6732:Vmn2r69
|
UTSW |
7 |
85,060,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6741:Vmn2r69
|
UTSW |
7 |
85,061,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7070:Vmn2r69
|
UTSW |
7 |
85,060,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7234:Vmn2r69
|
UTSW |
7 |
85,056,315 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7323:Vmn2r69
|
UTSW |
7 |
85,060,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7427:Vmn2r69
|
UTSW |
7 |
85,060,467 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7428:Vmn2r69
|
UTSW |
7 |
85,060,467 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7453:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7532:Vmn2r69
|
UTSW |
7 |
85,059,622 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7556:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7562:Vmn2r69
|
UTSW |
7 |
85,056,420 (GRCm39) |
missense |
probably benign |
|
|
R7592:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7708:Vmn2r69
|
UTSW |
7 |
85,061,755 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7803:Vmn2r69
|
UTSW |
7 |
85,056,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7960:Vmn2r69
|
UTSW |
7 |
85,055,973 (GRCm39) |
missense |
probably benign |
|
|
R7966:Vmn2r69
|
UTSW |
7 |
85,060,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8071:Vmn2r69
|
UTSW |
7 |
85,055,713 (GRCm39) |
nonsense |
probably null |
|
|
R8237:Vmn2r69
|
UTSW |
7 |
85,060,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8347:Vmn2r69
|
UTSW |
7 |
85,064,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8737:Vmn2r69
|
UTSW |
7 |
85,055,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Vmn2r69
|
UTSW |
7 |
85,064,883 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R8831:Vmn2r69
|
UTSW |
7 |
85,059,018 (GRCm39) |
nonsense |
probably null |
|
|
R8856:Vmn2r69
|
UTSW |
7 |
85,061,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8998:Vmn2r69
|
UTSW |
7 |
85,060,307 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8999:Vmn2r69
|
UTSW |
7 |
85,060,307 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9161:Vmn2r69
|
UTSW |
7 |
85,056,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9228:Vmn2r69
|
UTSW |
7 |
85,064,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9494:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Vmn2r69
|
UTSW |
7 |
85,056,084 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9541:Vmn2r69
|
UTSW |
7 |
85,056,209 (GRCm39) |
missense |
probably benign |
|
|
R9620:Vmn2r69
|
UTSW |
7 |
85,061,504 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Vmn2r69
|
UTSW |
7 |
85,055,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGGACATCTCAGTTTGG -3'
(R):5'- CCTCCGTGAGACTTTCTGATTATG -3'
Sequencing Primer
(F):5'- CCTATCCAGTTCCATCTGA -3'
(R):5'- CCGTGAGACTTTCTGATTATGAAGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation