Incidental Mutation 'R4031:Vmn2r107'
ID |
313512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r107
|
Ensembl Gene |
ENSMUSG00000056910 |
Gene Name |
vomeronasal 2, receptor 107 |
Synonyms |
V2r6 |
MMRRC Submission |
040960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R4031 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20565687-20596034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20595483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 679
(V679I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042090]
|
AlphaFold |
E9PZJ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042090
AA Change: V679I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048706 Gene: ENSMUSG00000056910 AA Change: V679I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
83 |
466 |
3.6e-40 |
PFAM |
Pfam:NCD3G
|
509 |
562 |
5.1e-21 |
PFAM |
Pfam:7tm_3
|
593 |
830 |
8e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Ccdc150 |
T |
A |
1: 54,317,970 (GRCm39) |
M303K |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
Elf1 |
A |
C |
14: 79,806,723 (GRCm39) |
K161Q |
probably damaging |
Het |
Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
Mindy3 |
A |
C |
2: 12,405,894 (GRCm39) |
|
probably null |
Het |
Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
Polr1e |
A |
T |
4: 45,018,685 (GRCm39) |
E5V |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
Trak1 |
T |
C |
9: 121,280,736 (GRCm39) |
I272T |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
probably null |
Het |
|
Other mutations in Vmn2r107 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01402:Vmn2r107
|
APN |
17 |
20,596,009 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01768:Vmn2r107
|
APN |
17 |
20,565,868 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02086:Vmn2r107
|
APN |
17 |
20,578,062 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02136:Vmn2r107
|
APN |
17 |
20,595,168 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02266:Vmn2r107
|
APN |
17 |
20,577,039 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02285:Vmn2r107
|
APN |
17 |
20,595,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Vmn2r107
|
APN |
17 |
20,577,006 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02998:Vmn2r107
|
APN |
17 |
20,578,017 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03089:Vmn2r107
|
APN |
17 |
20,595,974 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03284:Vmn2r107
|
APN |
17 |
20,577,173 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03307:Vmn2r107
|
APN |
17 |
20,577,038 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03399:Vmn2r107
|
APN |
17 |
20,578,220 (GRCm39) |
splice site |
probably benign |
|
3-1:Vmn2r107
|
UTSW |
17 |
20,565,766 (GRCm39) |
missense |
probably benign |
|
BB006:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
BB016:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
R0285:Vmn2r107
|
UTSW |
17 |
20,565,873 (GRCm39) |
missense |
probably benign |
0.00 |
R0455:Vmn2r107
|
UTSW |
17 |
20,595,085 (GRCm39) |
splice site |
probably benign |
|
R0497:Vmn2r107
|
UTSW |
17 |
20,595,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Vmn2r107
|
UTSW |
17 |
20,578,021 (GRCm39) |
missense |
probably benign |
|
R0621:Vmn2r107
|
UTSW |
17 |
20,595,252 (GRCm39) |
missense |
probably benign |
0.01 |
R0667:Vmn2r107
|
UTSW |
17 |
20,575,916 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1118:Vmn2r107
|
UTSW |
17 |
20,576,860 (GRCm39) |
missense |
probably benign |
0.03 |
R1204:Vmn2r107
|
UTSW |
17 |
20,578,031 (GRCm39) |
missense |
probably benign |
|
R1237:Vmn2r107
|
UTSW |
17 |
20,576,947 (GRCm39) |
nonsense |
probably null |
|
R1485:Vmn2r107
|
UTSW |
17 |
20,595,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1783:Vmn2r107
|
UTSW |
17 |
20,576,775 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1873:Vmn2r107
|
UTSW |
17 |
20,565,840 (GRCm39) |
missense |
probably benign |
0.10 |
R1974:Vmn2r107
|
UTSW |
17 |
20,575,879 (GRCm39) |
splice site |
probably null |
|
R2009:Vmn2r107
|
UTSW |
17 |
20,595,729 (GRCm39) |
missense |
probably benign |
0.01 |
R2029:Vmn2r107
|
UTSW |
17 |
20,595,549 (GRCm39) |
missense |
probably benign |
0.01 |
R2164:Vmn2r107
|
UTSW |
17 |
20,595,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Vmn2r107
|
UTSW |
17 |
20,595,817 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3087:Vmn2r107
|
UTSW |
17 |
20,580,607 (GRCm39) |
missense |
probably benign |
0.03 |
R3740:Vmn2r107
|
UTSW |
17 |
20,595,151 (GRCm39) |
missense |
probably benign |
0.00 |
R3961:Vmn2r107
|
UTSW |
17 |
20,595,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4270:Vmn2r107
|
UTSW |
17 |
20,576,041 (GRCm39) |
missense |
probably benign |
|
R4963:Vmn2r107
|
UTSW |
17 |
20,595,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R5121:Vmn2r107
|
UTSW |
17 |
20,576,015 (GRCm39) |
missense |
probably benign |
0.01 |
R5640:Vmn2r107
|
UTSW |
17 |
20,595,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Vmn2r107
|
UTSW |
17 |
20,595,316 (GRCm39) |
missense |
probably benign |
0.19 |
R6238:Vmn2r107
|
UTSW |
17 |
20,565,849 (GRCm39) |
missense |
probably benign |
0.43 |
R6298:Vmn2r107
|
UTSW |
17 |
20,576,044 (GRCm39) |
missense |
probably benign |
0.00 |
R6467:Vmn2r107
|
UTSW |
17 |
20,595,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R6726:Vmn2r107
|
UTSW |
17 |
20,595,637 (GRCm39) |
missense |
probably damaging |
0.96 |
R6782:Vmn2r107
|
UTSW |
17 |
20,577,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R7299:Vmn2r107
|
UTSW |
17 |
20,565,878 (GRCm39) |
missense |
probably benign |
0.01 |
R7301:Vmn2r107
|
UTSW |
17 |
20,565,878 (GRCm39) |
missense |
probably benign |
0.01 |
R7375:Vmn2r107
|
UTSW |
17 |
20,576,138 (GRCm39) |
missense |
probably benign |
|
R7448:Vmn2r107
|
UTSW |
17 |
20,595,994 (GRCm39) |
missense |
probably benign |
0.00 |
R7495:Vmn2r107
|
UTSW |
17 |
20,595,271 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7589:Vmn2r107
|
UTSW |
17 |
20,595,634 (GRCm39) |
missense |
probably benign |
0.05 |
R7594:Vmn2r107
|
UTSW |
17 |
20,580,635 (GRCm39) |
missense |
probably benign |
0.03 |
R7678:Vmn2r107
|
UTSW |
17 |
20,576,901 (GRCm39) |
missense |
probably benign |
0.01 |
R7929:Vmn2r107
|
UTSW |
17 |
20,565,706 (GRCm39) |
missense |
probably null |
0.96 |
R7974:Vmn2r107
|
UTSW |
17 |
20,577,270 (GRCm39) |
missense |
probably benign |
0.00 |
R8040:Vmn2r107
|
UTSW |
17 |
20,595,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R8263:Vmn2r107
|
UTSW |
17 |
20,580,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Vmn2r107
|
UTSW |
17 |
20,577,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9175:Vmn2r107
|
UTSW |
17 |
20,577,051 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9537:Vmn2r107
|
UTSW |
17 |
20,595,149 (GRCm39) |
missense |
probably benign |
0.00 |
R9642:Vmn2r107
|
UTSW |
17 |
20,580,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R9711:Vmn2r107
|
UTSW |
17 |
20,577,262 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Vmn2r107
|
UTSW |
17 |
20,577,230 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCAAGCTCTGAGTTACACTTTGC -3'
(R):5'- AGGTATCCCAGGACAGAGTG -3'
Sequencing Primer
(F):5'- GAGTTACACTTTGCTCATCACAC -3'
(R):5'- CTGAGCCCTTGTTGCACAAAATG -3'
|
Posted On |
2015-04-30 |