Incidental Mutation 'R4929:Vmn2r105'
ID |
381112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r105
|
Ensembl Gene |
ENSMUSG00000091670 |
Gene Name |
vomeronasal 2, receptor 105 |
Synonyms |
EG627743 |
MMRRC Submission |
042530-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4929 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20428492-20455134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20448280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 181
(D181E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167382]
|
AlphaFold |
E9Q3A5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167382
AA Change: D181E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129762 Gene: ENSMUSG00000091670 AA Change: D181E
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
85 |
469 |
6.5e-42 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
3.2e-21 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
2.5e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
possibly damaging |
Het |
|
Other mutations in Vmn2r105 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Vmn2r105
|
APN |
17 |
20,448,817 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01909:Vmn2r105
|
APN |
17 |
20,444,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01925:Vmn2r105
|
APN |
17 |
20,428,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02021:Vmn2r105
|
APN |
17 |
20,448,157 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02828:Vmn2r105
|
APN |
17 |
20,429,345 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02838:Vmn2r105
|
APN |
17 |
20,447,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03343:Vmn2r105
|
APN |
17 |
20,446,631 (GRCm39) |
nonsense |
probably null |
|
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0096:Vmn2r105
|
UTSW |
17 |
20,447,741 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0212:Vmn2r105
|
UTSW |
17 |
20,428,827 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0268:Vmn2r105
|
UTSW |
17 |
20,428,938 (GRCm39) |
missense |
probably benign |
0.18 |
R0271:Vmn2r105
|
UTSW |
17 |
20,454,965 (GRCm39) |
missense |
probably damaging |
0.96 |
R0613:Vmn2r105
|
UTSW |
17 |
20,428,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Vmn2r105
|
UTSW |
17 |
20,448,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R0765:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
R1162:Vmn2r105
|
UTSW |
17 |
20,447,973 (GRCm39) |
missense |
probably benign |
0.20 |
R1263:Vmn2r105
|
UTSW |
17 |
20,428,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R1363:Vmn2r105
|
UTSW |
17 |
20,428,932 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Vmn2r105
|
UTSW |
17 |
20,449,004 (GRCm39) |
splice site |
probably benign |
|
R2029:Vmn2r105
|
UTSW |
17 |
20,444,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2420:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2421:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2422:Vmn2r105
|
UTSW |
17 |
20,448,097 (GRCm39) |
missense |
probably benign |
0.15 |
R2570:Vmn2r105
|
UTSW |
17 |
20,447,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3848:Vmn2r105
|
UTSW |
17 |
20,428,952 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4030:Vmn2r105
|
UTSW |
17 |
20,429,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R4275:Vmn2r105
|
UTSW |
17 |
20,448,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4551:Vmn2r105
|
UTSW |
17 |
20,446,613 (GRCm39) |
missense |
probably benign |
|
R4801:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
R4802:Vmn2r105
|
UTSW |
17 |
20,447,556 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Vmn2r105
|
UTSW |
17 |
20,428,953 (GRCm39) |
missense |
probably benign |
0.27 |
R5022:Vmn2r105
|
UTSW |
17 |
20,428,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R5475:Vmn2r105
|
UTSW |
17 |
20,455,044 (GRCm39) |
missense |
probably benign |
|
R5576:Vmn2r105
|
UTSW |
17 |
20,444,836 (GRCm39) |
critical splice donor site |
probably null |
|
R5795:Vmn2r105
|
UTSW |
17 |
20,448,998 (GRCm39) |
missense |
probably benign |
0.00 |
R5895:Vmn2r105
|
UTSW |
17 |
20,448,929 (GRCm39) |
missense |
probably benign |
0.10 |
R6017:Vmn2r105
|
UTSW |
17 |
20,428,889 (GRCm39) |
missense |
probably damaging |
0.97 |
R6210:Vmn2r105
|
UTSW |
17 |
20,448,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6491:Vmn2r105
|
UTSW |
17 |
20,447,992 (GRCm39) |
nonsense |
probably null |
|
R6542:Vmn2r105
|
UTSW |
17 |
20,448,803 (GRCm39) |
missense |
probably benign |
0.03 |
R6729:Vmn2r105
|
UTSW |
17 |
20,428,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R7020:Vmn2r105
|
UTSW |
17 |
20,429,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Vmn2r105
|
UTSW |
17 |
20,428,874 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Vmn2r105
|
UTSW |
17 |
20,429,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Vmn2r105
|
UTSW |
17 |
20,448,827 (GRCm39) |
missense |
probably benign |
0.02 |
R7555:Vmn2r105
|
UTSW |
17 |
20,447,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R7863:Vmn2r105
|
UTSW |
17 |
20,428,937 (GRCm39) |
missense |
probably benign |
0.18 |
R8137:Vmn2r105
|
UTSW |
17 |
20,454,966 (GRCm39) |
missense |
probably benign |
0.02 |
R8166:Vmn2r105
|
UTSW |
17 |
20,428,904 (GRCm39) |
missense |
probably benign |
0.07 |
R8186:Vmn2r105
|
UTSW |
17 |
20,444,880 (GRCm39) |
nonsense |
probably null |
|
R8214:Vmn2r105
|
UTSW |
17 |
20,448,775 (GRCm39) |
missense |
probably benign |
0.02 |
R8497:Vmn2r105
|
UTSW |
17 |
20,455,134 (GRCm39) |
start codon destroyed |
probably null |
0.75 |
R8850:Vmn2r105
|
UTSW |
17 |
20,428,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Vmn2r105
|
UTSW |
17 |
20,429,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R9272:Vmn2r105
|
UTSW |
17 |
20,447,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R9506:Vmn2r105
|
UTSW |
17 |
20,429,404 (GRCm39) |
missense |
probably benign |
0.00 |
R9549:Vmn2r105
|
UTSW |
17 |
20,448,023 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGTGGCAGGGATCATTTTC -3'
(R):5'- CAGGCTTGCCAGGAATTTCTG -3'
Sequencing Primer
(F):5'- TGGCAGGGATCATTTTCACAAAAGC -3'
(R):5'- GGCTTGCCAGGAATTTCTGTAAAATG -3'
|
Posted On |
2016-04-15 |