Incidental Mutation 'R5980:Vmn2r83'
ID |
481390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r83
|
Ensembl Gene |
ENSMUSG00000091381 |
Gene Name |
vomeronasal 2, receptor 83 |
Synonyms |
EG625029 |
MMRRC Submission |
044162-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5980 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79304792-79327988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79314626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 291
(H291Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167976]
|
AlphaFold |
E9Q0G7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167976
AA Change: H291Q
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000131426 Gene: ENSMUSG00000091381 AA Change: H291Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
473 |
1.5e-33 |
PFAM |
Pfam:NCD3G
|
516 |
569 |
6.2e-22 |
PFAM |
Pfam:7tm_3
|
602 |
837 |
8.1e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,544,018 (GRCm39) |
N508D |
possibly damaging |
Het |
Ago1 |
C |
T |
4: 126,354,362 (GRCm39) |
|
probably benign |
Het |
Apol6 |
A |
T |
15: 76,935,219 (GRCm39) |
T163S |
possibly damaging |
Het |
Arhgap27 |
T |
C |
11: 103,247,095 (GRCm39) |
T33A |
probably benign |
Het |
Atg7 |
C |
A |
6: 114,657,197 (GRCm39) |
F132L |
possibly damaging |
Het |
Cep104 |
C |
A |
4: 154,072,930 (GRCm39) |
A396E |
probably benign |
Het |
Cers4 |
T |
A |
8: 4,568,269 (GRCm39) |
C107* |
probably null |
Het |
Cntn6 |
T |
C |
6: 104,825,093 (GRCm39) |
S878P |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,158,705 (GRCm39) |
K633E |
probably benign |
Het |
Dst |
T |
A |
1: 34,221,972 (GRCm39) |
I2592K |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,881,595 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
A |
G |
2: 125,157,324 (GRCm39) |
C2320R |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,928,351 (GRCm39) |
|
probably null |
Het |
Gse1 |
T |
G |
8: 120,956,376 (GRCm39) |
|
probably benign |
Het |
Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,315,295 (GRCm39) |
H708Q |
probably benign |
Het |
Igkv10-95 |
T |
C |
6: 68,657,573 (GRCm39) |
S10P |
probably damaging |
Het |
Igkv14-100 |
T |
C |
6: 68,496,009 (GRCm39) |
V5A |
probably benign |
Het |
Irgq |
G |
A |
7: 24,232,770 (GRCm39) |
G204S |
probably damaging |
Het |
Kansl1 |
T |
C |
11: 104,234,463 (GRCm39) |
K681R |
possibly damaging |
Het |
Kcnv1 |
C |
A |
15: 44,972,810 (GRCm39) |
V358L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,349 (GRCm39) |
S275T |
probably damaging |
Het |
Lysmd1 |
A |
T |
3: 95,045,219 (GRCm39) |
D155V |
probably damaging |
Het |
Magel2 |
A |
T |
7: 62,030,344 (GRCm39) |
I1083F |
unknown |
Het |
Mta3 |
T |
A |
17: 84,015,834 (GRCm39) |
V12D |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,494,977 (GRCm39) |
I423T |
probably damaging |
Het |
Mup11 |
A |
G |
4: 60,616,887 (GRCm39) |
Y16H |
possibly damaging |
Het |
Mycbp |
G |
A |
4: 123,804,889 (GRCm39) |
V91I |
probably benign |
Het |
Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
Nol4 |
T |
A |
18: 23,085,258 (GRCm39) |
Q52L |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,618,416 (GRCm39) |
V808A |
probably damaging |
Het |
Or10p22 |
A |
G |
10: 128,826,309 (GRCm39) |
H176R |
probably damaging |
Het |
Or5ak23 |
A |
T |
2: 85,244,509 (GRCm39) |
F238Y |
probably damaging |
Het |
Or8k24 |
A |
T |
2: 86,216,141 (GRCm39) |
L207* |
probably null |
Het |
Pate10 |
A |
C |
9: 35,652,911 (GRCm39) |
D51A |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 133,016,046 (GRCm39) |
D869E |
probably benign |
Het |
Pom121l2 |
T |
C |
13: 22,167,546 (GRCm39) |
S606P |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,613,770 (GRCm39) |
R517* |
probably null |
Het |
Ralgapa1 |
T |
A |
12: 55,817,401 (GRCm39) |
|
probably null |
Het |
Saraf |
T |
A |
8: 34,632,541 (GRCm39) |
F207I |
probably benign |
Het |
Sema6d |
A |
G |
2: 124,506,628 (GRCm39) |
D874G |
probably damaging |
Het |
Sfrp5 |
A |
T |
19: 42,190,411 (GRCm39) |
L14M |
unknown |
Het |
Sidt1 |
A |
T |
16: 44,083,675 (GRCm39) |
C485* |
probably null |
Het |
Sptbn4 |
A |
G |
7: 27,071,596 (GRCm39) |
Y1618H |
probably damaging |
Het |
Syt14 |
T |
C |
1: 192,662,716 (GRCm39) |
Q127R |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Ticrr |
G |
A |
7: 79,310,703 (GRCm39) |
A206T |
probably damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,662 (GRCm39) |
I820F |
probably benign |
Het |
Trafd1 |
A |
G |
5: 121,511,520 (GRCm39) |
Y433H |
probably damaging |
Het |
Trim68 |
A |
G |
7: 102,328,038 (GRCm39) |
V305A |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,480 (GRCm39) |
Y163F |
possibly damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,661,624 (GRCm39) |
I457V |
probably benign |
Het |
|
Other mutations in Vmn2r83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Vmn2r83
|
APN |
10 |
79,314,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01096:Vmn2r83
|
APN |
10 |
79,313,662 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01542:Vmn2r83
|
APN |
10 |
79,314,846 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01803:Vmn2r83
|
APN |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02110:Vmn2r83
|
APN |
10 |
79,327,534 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02347:Vmn2r83
|
APN |
10 |
79,316,067 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02417:Vmn2r83
|
APN |
10 |
79,314,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02544:Vmn2r83
|
APN |
10 |
79,317,293 (GRCm39) |
splice site |
probably benign |
|
IGL02683:Vmn2r83
|
APN |
10 |
79,327,115 (GRCm39) |
missense |
probably benign |
|
IGL02976:Vmn2r83
|
APN |
10 |
79,304,832 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4378001:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4468001:Vmn2r83
|
UTSW |
10 |
79,313,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Vmn2r83
|
UTSW |
10 |
79,327,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1391:Vmn2r83
|
UTSW |
10 |
79,314,931 (GRCm39) |
missense |
probably damaging |
0.96 |
R1539:Vmn2r83
|
UTSW |
10 |
79,327,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1575:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R2033:Vmn2r83
|
UTSW |
10 |
79,327,653 (GRCm39) |
missense |
probably benign |
0.03 |
R3916:Vmn2r83
|
UTSW |
10 |
79,314,744 (GRCm39) |
missense |
probably benign |
0.01 |
R3967:Vmn2r83
|
UTSW |
10 |
79,327,154 (GRCm39) |
missense |
probably benign |
0.00 |
R4840:Vmn2r83
|
UTSW |
10 |
79,313,682 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5063:Vmn2r83
|
UTSW |
10 |
79,314,921 (GRCm39) |
missense |
probably benign |
0.04 |
R5630:Vmn2r83
|
UTSW |
10 |
79,327,785 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5707:Vmn2r83
|
UTSW |
10 |
79,327,183 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6294:Vmn2r83
|
UTSW |
10 |
79,313,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R6302:Vmn2r83
|
UTSW |
10 |
79,304,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6769:Vmn2r83
|
UTSW |
10 |
79,313,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Vmn2r83
|
UTSW |
10 |
79,316,093 (GRCm39) |
missense |
probably benign |
|
R7221:Vmn2r83
|
UTSW |
10 |
79,316,001 (GRCm39) |
missense |
probably benign |
0.02 |
R7376:Vmn2r83
|
UTSW |
10 |
79,314,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7431:Vmn2r83
|
UTSW |
10 |
79,327,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Vmn2r83
|
UTSW |
10 |
79,327,771 (GRCm39) |
missense |
probably damaging |
0.98 |
R7526:Vmn2r83
|
UTSW |
10 |
79,327,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R7881:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R7939:Vmn2r83
|
UTSW |
10 |
79,314,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R8314:Vmn2r83
|
UTSW |
10 |
79,317,313 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8364:Vmn2r83
|
UTSW |
10 |
79,316,037 (GRCm39) |
missense |
probably benign |
0.12 |
R8802:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R8947:Vmn2r83
|
UTSW |
10 |
79,304,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Vmn2r83
|
UTSW |
10 |
79,313,853 (GRCm39) |
missense |
probably benign |
0.15 |
R8983:Vmn2r83
|
UTSW |
10 |
79,327,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9018:Vmn2r83
|
UTSW |
10 |
79,316,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Vmn2r83
|
UTSW |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Vmn2r83
|
UTSW |
10 |
79,317,322 (GRCm39) |
nonsense |
probably null |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,314,486 (GRCm39) |
missense |
probably benign |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Vmn2r83
|
UTSW |
10 |
79,314,756 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTGCTCAGCACAGATGAC -3'
(R):5'- TACTTGAAAGGAGTGGCTTCATGC -3'
Sequencing Primer
(F):5'- CAGAGGTGCTCAGTTTCTATCAGAC -3'
(R):5'- GAGTGGCTTCATGCACAAAATTAGTG -3'
|
Posted On |
2017-06-26 |