Incidental Mutation 'R2016:Vmn2r69'
| ID |
223021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r69
|
| Ensembl Gene |
ENSMUSG00000091006 |
| Gene Name |
vomeronasal 2, receptor 69 |
| Synonyms |
|
| MMRRC Submission |
040025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R2016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
85055584-85064884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85056493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 548
(D548E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171213]
|
| AlphaFold |
G3XA45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171213
AA Change: D548E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132726
Gene: ENSMUSG00000091006
AA Change: D548E
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
C |
2: 164,920,946 (GRCm39) |
D29G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,240,619 (GRCm39) |
L827F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,961,213 (GRCm39) |
F570L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,862 (GRCm39) |
I493N |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,656 (GRCm39) |
C143R |
probably damaging |
Het |
| Afg2a |
T |
C |
3: 37,632,911 (GRCm39) |
V839A |
possibly damaging |
Het |
| Akap13 |
C |
T |
7: 75,354,279 (GRCm39) |
T1800M |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,747 (GRCm39) |
N240S |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,057,751 (GRCm39) |
D2078N |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,673,405 (GRCm39) |
N989S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,621 (GRCm39) |
D189G |
probably damaging |
Het |
| Bcam |
G |
A |
7: 19,494,274 (GRCm39) |
T374M |
probably benign |
Het |
| Blm |
T |
C |
7: 80,155,674 (GRCm39) |
D335G |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,727 (GRCm39) |
L264P |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,495,086 (GRCm39) |
F1515L |
probably benign |
Het |
| Csf2ra |
T |
G |
19: 61,215,331 (GRCm39) |
M95L |
probably benign |
Het |
| Cyp2c70 |
T |
A |
19: 40,152,856 (GRCm39) |
T300S |
possibly damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,921,133 (GRCm39) |
H440L |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,716,287 (GRCm39) |
D360E |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,812,537 (GRCm39) |
M652V |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,327,896 (GRCm39) |
I3370F |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Efemp1 |
G |
T |
11: 28,871,613 (GRCm39) |
R376L |
probably damaging |
Het |
| Efl1 |
A |
C |
7: 82,402,917 (GRCm39) |
D673A |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,121 (GRCm39) |
M4V |
probably benign |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,751,530 (GRCm39) |
R170C |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,270 (GRCm39) |
W362R |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,290 (GRCm39) |
F91L |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,443,796 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,813,076 (GRCm39) |
K3132E |
possibly damaging |
Het |
| Garin5b |
A |
T |
7: 4,762,397 (GRCm39) |
I244N |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,738,326 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
T |
17: 18,068,532 (GRCm39) |
I274N |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,801 (GRCm39) |
L94P |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,389 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,964,275 (GRCm39) |
D475G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,930,608 (GRCm39) |
M298K |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,494,289 (GRCm39) |
G241* |
probably null |
Het |
| Lrif1 |
G |
T |
3: 106,639,522 (GRCm39) |
L202F |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,056 (GRCm39) |
K1003E |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,311,393 (GRCm39) |
D487G |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,221,379 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
T |
A |
10: 105,633,167 (GRCm39) |
E425D |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,949 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,777,713 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Mylk |
G |
A |
16: 34,817,187 (GRCm39) |
V61M |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,831,993 (GRCm39) |
|
probably null |
Het |
| Nle1 |
G |
T |
11: 82,796,373 (GRCm39) |
P166Q |
probably damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,083,252 (GRCm39) |
C595Y |
probably damaging |
Het |
| Or10d4 |
A |
G |
9: 39,580,851 (GRCm39) |
Y166C |
probably damaging |
Het |
| Or4g7 |
G |
T |
2: 111,309,532 (GRCm39) |
M134I |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,959 (GRCm39) |
I190T |
probably benign |
Het |
| Or5w1b |
C |
T |
2: 87,476,396 (GRCm39) |
V24M |
probably benign |
Het |
| Or8b1 |
A |
T |
9: 38,399,309 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
A |
5: 65,805,350 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
T |
C |
19: 4,161,873 (GRCm39) |
V955A |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,204,340 (GRCm39) |
I898N |
possibly damaging |
Het |
| Plcl2 |
G |
A |
17: 50,913,722 (GRCm39) |
V244M |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,761,663 (GRCm39) |
K257R |
probably damaging |
Het |
| Prkcg |
A |
T |
7: 3,372,066 (GRCm39) |
T460S |
probably damaging |
Het |
| Prl7d1 |
G |
A |
13: 27,894,156 (GRCm39) |
H138Y |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,565 (GRCm39) |
S112G |
probably benign |
Het |
| Ptprj |
C |
T |
2: 90,294,958 (GRCm39) |
V417M |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,836,067 (GRCm39) |
I503F |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,463,195 (GRCm39) |
V498A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,037 (GRCm39) |
V1314A |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,078,545 (GRCm39) |
I549V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,062,522 (GRCm39) |
S230G |
probably benign |
Het |
| Slc5a4a |
T |
G |
10: 75,989,414 (GRCm39) |
F106V |
probably benign |
Het |
| Stat6 |
T |
C |
10: 127,486,665 (GRCm39) |
L147P |
probably damaging |
Het |
| Taar7d |
T |
A |
10: 23,903,642 (GRCm39) |
S175T |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,626,770 (GRCm39) |
I1060K |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,700,080 (GRCm39) |
Q206R |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,061 (GRCm39) |
D231G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,071,439 (GRCm39) |
|
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,844,214 (GRCm39) |
E374V |
probably damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,931,851 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
A |
6: 47,874,721 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
A |
G |
4: 90,113,408 (GRCm39) |
E516G |
probably benign |
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 |
|
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 |
|
R6709:Vmn2r69
|
UTSW |
7 |
85,061,069 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TGTGTTTCAGGAAGACAAAGAGTAC -3'
(R):5'- CACTAAACAGTGAGACATATGGAC -3'
Sequencing Primer
(F):5'- TTTCAGGAAGACAAAGAGTACAACAG -3'
(R):5'- CCACAAATGGTCAATTTAAGATGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation