Incidental Mutation 'R1575:Vmn2r104'
| ID |
171131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r104
|
| Ensembl Gene |
ENSMUSG00000090315 |
| Gene Name |
vomeronasal 2, receptor 104 |
| Synonyms |
V2r7 |
| MMRRC Submission |
039613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20262477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 218
(W218R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
| AlphaFold |
E9Q2J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168050
AA Change: W218R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129895
Gene: ENSMUSG00000090315
AA Change: W218R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
85 |
457 |
4e-38 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.1e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
1.7e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
| Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,191,713 (GRCm39) |
W422R |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
| Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
| Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,184,852 (GRCm39) |
T24A |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
| Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
| Klk14 |
A |
G |
7: 43,343,377 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
| Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
| Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
| Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
| Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
| Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
| St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,739,693 (GRCm39) |
G586V |
probably benign |
Het |
| Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
T |
9: 21,026,758 (GRCm39) |
N620K |
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
| Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
| Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
| Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Vmn2r104
|
APN |
17 |
20,258,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01098:Vmn2r104
|
APN |
17 |
20,268,358 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01333:Vmn2r104
|
APN |
17 |
20,263,055 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01527:Vmn2r104
|
APN |
17 |
20,263,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01773:Vmn2r104
|
APN |
17 |
20,260,930 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01939:Vmn2r104
|
APN |
17 |
20,250,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02121:Vmn2r104
|
APN |
17 |
20,262,056 (GRCm39) |
nonsense |
probably null |
|
|
IGL02305:Vmn2r104
|
APN |
17 |
20,263,118 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02374:Vmn2r104
|
APN |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03260:Vmn2r104
|
APN |
17 |
20,263,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03366:Vmn2r104
|
APN |
17 |
20,249,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Vmn2r104
|
UTSW |
17 |
20,262,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0125:Vmn2r104
|
UTSW |
17 |
20,250,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0257:Vmn2r104
|
UTSW |
17 |
20,249,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Vmn2r104
|
UTSW |
17 |
20,268,264 (GRCm39) |
nonsense |
probably null |
|
|
R0709:Vmn2r104
|
UTSW |
17 |
20,263,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Vmn2r104
|
UTSW |
17 |
20,262,987 (GRCm39) |
missense |
probably benign |
|
|
R1827:Vmn2r104
|
UTSW |
17 |
20,262,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1932:Vmn2r104
|
UTSW |
17 |
20,261,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Vmn2r104
|
UTSW |
17 |
20,262,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2203:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2205:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2859:Vmn2r104
|
UTSW |
17 |
20,268,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3701:Vmn2r104
|
UTSW |
17 |
20,249,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3834:Vmn2r104
|
UTSW |
17 |
20,250,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4151:Vmn2r104
|
UTSW |
17 |
20,250,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Vmn2r104
|
UTSW |
17 |
20,262,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Vmn2r104
|
UTSW |
17 |
20,268,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Vmn2r104
|
UTSW |
17 |
20,261,030 (GRCm39) |
nonsense |
probably null |
|
|
R4911:Vmn2r104
|
UTSW |
17 |
20,250,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5270:Vmn2r104
|
UTSW |
17 |
20,258,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Vmn2r104
|
UTSW |
17 |
20,262,146 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5311:Vmn2r104
|
UTSW |
17 |
20,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5370:Vmn2r104
|
UTSW |
17 |
20,250,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5461:Vmn2r104
|
UTSW |
17 |
20,250,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Vmn2r104
|
UTSW |
17 |
20,260,981 (GRCm39) |
nonsense |
probably null |
|
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5970:Vmn2r104
|
UTSW |
17 |
20,249,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5983:Vmn2r104
|
UTSW |
17 |
20,261,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Vmn2r104
|
UTSW |
17 |
20,249,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Vmn2r104
|
UTSW |
17 |
20,258,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6156:Vmn2r104
|
UTSW |
17 |
20,261,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Vmn2r104
|
UTSW |
17 |
20,250,507 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6245:Vmn2r104
|
UTSW |
17 |
20,261,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6333:Vmn2r104
|
UTSW |
17 |
20,249,848 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6573:Vmn2r104
|
UTSW |
17 |
20,262,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Vmn2r104
|
UTSW |
17 |
20,250,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7123:Vmn2r104
|
UTSW |
17 |
20,261,088 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7485:Vmn2r104
|
UTSW |
17 |
20,249,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Vmn2r104
|
UTSW |
17 |
20,249,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Vmn2r104
|
UTSW |
17 |
20,261,971 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7958:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
|
R8031:Vmn2r104
|
UTSW |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8094:Vmn2r104
|
UTSW |
17 |
20,250,483 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8191:Vmn2r104
|
UTSW |
17 |
20,250,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8308:Vmn2r104
|
UTSW |
17 |
20,261,040 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8691:Vmn2r104
|
UTSW |
17 |
20,262,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8795:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
|
R8900:Vmn2r104
|
UTSW |
17 |
20,261,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8913:Vmn2r104
|
UTSW |
17 |
20,249,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Vmn2r104
|
UTSW |
17 |
20,262,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9282:Vmn2r104
|
UTSW |
17 |
20,261,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9305:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9322:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9325:Vmn2r104
|
UTSW |
17 |
20,268,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9414:Vmn2r104
|
UTSW |
17 |
20,250,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9785:Vmn2r104
|
UTSW |
17 |
20,268,409 (GRCm39) |
missense |
probably benign |
|
|
RF007:Vmn2r104
|
UTSW |
17 |
20,268,302 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Vmn2r104
|
UTSW |
17 |
20,250,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCATGTCAATAACCTTTGCCCAA -3'
(R):5'- CATTGCTGCACTCACAGGATCATCAT -3'
Sequencing Primer
(F):5'- CCTTTGCCCAATAATTTGCATAAG -3'
(R):5'- CAAATTGGGACATTGCTTCAACTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation