Incidental Mutation 'IGL03047:Vmn2r7'
ID |
392218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r7
|
Ensembl Gene |
ENSMUSG00000116028 |
Gene Name |
vomeronasal 2, receptor 7 |
Synonyms |
4933425M15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
IGL03047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64614639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 392
(H392Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161972
AA Change: H483Y
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124192 Gene: ENSMUSG00000062200 AA Change: H483Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
90 |
507 |
3.8e-77 |
PFAM |
Pfam:NCD3G
|
549 |
602 |
3.4e-17 |
PFAM |
Pfam:7tm_3
|
635 |
869 |
1.1e-47 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168072
AA Change: H392Y
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131220 Gene: ENSMUSG00000116028 AA Change: H392Y
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
416 |
5.1e-72 |
PFAM |
Pfam:Peripla_BP_6
|
63 |
245 |
6.1e-10 |
PFAM |
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
Pfam:7tm_3
|
542 |
779 |
4.3e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177146
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
probably damaging |
Het |
|
Other mutations in Vmn2r7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00961:Vmn2r7
|
APN |
3 |
64,623,234 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01762:Vmn2r7
|
APN |
3 |
64,598,856 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01903:Vmn2r7
|
APN |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02263:Vmn2r7
|
APN |
3 |
64,598,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02458:Vmn2r7
|
APN |
3 |
64,600,446 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02593:Vmn2r7
|
APN |
3 |
64,600,443 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02797:Vmn2r7
|
APN |
3 |
64,598,666 (GRCm39) |
missense |
possibly damaging |
0.80 |
PIT4504001:Vmn2r7
|
UTSW |
3 |
64,623,397 (GRCm39) |
missense |
probably benign |
0.01 |
R0193:Vmn2r7
|
UTSW |
3 |
64,598,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Vmn2r7
|
UTSW |
3 |
64,598,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R0609:Vmn2r7
|
UTSW |
3 |
64,623,900 (GRCm39) |
missense |
probably benign |
0.44 |
R0735:Vmn2r7
|
UTSW |
3 |
64,623,788 (GRCm39) |
missense |
probably benign |
0.02 |
R0941:Vmn2r7
|
UTSW |
3 |
64,624,000 (GRCm39) |
missense |
probably benign |
|
R1065:Vmn2r7
|
UTSW |
3 |
64,614,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1378:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1445:Vmn2r7
|
UTSW |
3 |
64,632,223 (GRCm39) |
missense |
probably benign |
0.01 |
R1506:Vmn2r7
|
UTSW |
3 |
64,614,500 (GRCm39) |
missense |
probably benign |
|
R1509:Vmn2r7
|
UTSW |
3 |
64,623,881 (GRCm39) |
nonsense |
probably null |
|
R1519:Vmn2r7
|
UTSW |
3 |
64,623,876 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1706:Vmn2r7
|
UTSW |
3 |
64,598,880 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2113:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3725:Vmn2r7
|
UTSW |
3 |
64,632,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3874:Vmn2r7
|
UTSW |
3 |
64,627,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3902:Vmn2r7
|
UTSW |
3 |
64,626,937 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4084:Vmn2r7
|
UTSW |
3 |
64,600,414 (GRCm39) |
missense |
probably benign |
0.08 |
R4117:Vmn2r7
|
UTSW |
3 |
64,623,138 (GRCm39) |
intron |
probably benign |
|
R4333:Vmn2r7
|
UTSW |
3 |
64,598,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R4551:Vmn2r7
|
UTSW |
3 |
64,598,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4643:Vmn2r7
|
UTSW |
3 |
64,623,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Vmn2r7
|
UTSW |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
R5091:Vmn2r7
|
UTSW |
3 |
64,598,205 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5109:Vmn2r7
|
UTSW |
3 |
64,598,088 (GRCm39) |
missense |
probably null |
0.84 |
R5372:Vmn2r7
|
UTSW |
3 |
64,623,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5415:Vmn2r7
|
UTSW |
3 |
64,623,658 (GRCm39) |
missense |
probably benign |
0.07 |
R5740:Vmn2r7
|
UTSW |
3 |
64,614,654 (GRCm39) |
missense |
probably benign |
|
R5977:Vmn2r7
|
UTSW |
3 |
64,623,464 (GRCm39) |
nonsense |
probably null |
|
R6019:Vmn2r7
|
UTSW |
3 |
64,623,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Vmn2r7
|
UTSW |
3 |
64,632,436 (GRCm39) |
missense |
probably benign |
0.00 |
R6139:Vmn2r7
|
UTSW |
3 |
64,623,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R6696:Vmn2r7
|
UTSW |
3 |
64,614,495 (GRCm39) |
missense |
probably benign |
0.01 |
R6887:Vmn2r7
|
UTSW |
3 |
64,598,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Vmn2r7
|
UTSW |
3 |
64,598,760 (GRCm39) |
missense |
probably benign |
0.03 |
R6949:Vmn2r7
|
UTSW |
3 |
64,598,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R6980:Vmn2r7
|
UTSW |
3 |
64,623,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7196:Vmn2r7
|
UTSW |
3 |
64,623,198 (GRCm39) |
missense |
probably benign |
0.00 |
R7286:Vmn2r7
|
UTSW |
3 |
64,598,301 (GRCm39) |
missense |
probably benign |
0.00 |
R7455:Vmn2r7
|
UTSW |
3 |
64,624,014 (GRCm39) |
missense |
probably benign |
|
R7557:Vmn2r7
|
UTSW |
3 |
64,632,394 (GRCm39) |
missense |
probably benign |
|
R7864:Vmn2r7
|
UTSW |
3 |
64,598,947 (GRCm39) |
missense |
probably benign |
0.10 |
R8046:Vmn2r7
|
UTSW |
3 |
64,614,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8068:Vmn2r7
|
UTSW |
3 |
64,623,507 (GRCm39) |
missense |
probably benign |
0.01 |
R8252:Vmn2r7
|
UTSW |
3 |
64,600,527 (GRCm39) |
missense |
probably benign |
0.00 |
R8814:Vmn2r7
|
UTSW |
3 |
64,623,984 (GRCm39) |
missense |
probably benign |
0.14 |
R9497:Vmn2r7
|
UTSW |
3 |
64,614,474 (GRCm39) |
missense |
probably benign |
0.04 |
R9722:Vmn2r7
|
UTSW |
3 |
64,598,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAACCCTTGAAGATTCAGTGTTC -3'
(R):5'- TTTCCAGGCTCTTGATACAGAG -3'
Sequencing Primer
(F):5'- CAGTGTTCCAAAATAATGTTGAGTTC -3'
(R):5'- CACCTGTGGCTAGAGGATATC -3'
|
Posted On |
2016-06-09 |