Incidental Mutation 'R8308:Vmn2r104'
| ID |
641218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r104
|
| Ensembl Gene |
ENSMUSG00000090315 |
| Gene Name |
vomeronasal 2, receptor 104 |
| Synonyms |
V2r7 |
| MMRRC Submission |
067793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20261040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 461
(D461G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
| AlphaFold |
E9Q2J5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168050
AA Change: D461G
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129895
Gene: ENSMUSG00000090315
AA Change: D461G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,659,570 (GRCm39) |
D341G |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,486,657 (GRCm39) |
T1457A |
probably damaging |
Het |
| Acot8 |
A |
T |
2: 164,646,663 (GRCm39) |
S25R |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,210,212 (GRCm39) |
V850A |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,214,487 (GRCm39) |
E402D |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,943,815 (GRCm39) |
K2689E |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,954,098 (GRCm39) |
D808Y |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,809 (GRCm39) |
T223A |
probably benign |
Het |
| Crem |
G |
T |
18: 3,295,397 (GRCm39) |
T57K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,656,516 (GRCm39) |
I393F |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,790,371 (GRCm39) |
V1451L |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,664,075 (GRCm39) |
V224A |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,190,586 (GRCm39) |
S152C |
unknown |
Het |
| Gcsam |
A |
T |
16: 45,430,902 (GRCm39) |
N3I |
probably damaging |
Het |
| Gm10188 |
C |
T |
1: 132,157,310 (GRCm39) |
V19I |
unknown |
Het |
| Gpr27 |
T |
C |
6: 99,670,217 (GRCm39) |
L193P |
probably damaging |
Het |
| Grin2b |
A |
T |
6: 135,900,074 (GRCm39) |
V269E |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,651 (GRCm39) |
I1275V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,239,862 (GRCm39) |
E234G |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,094,121 (GRCm39) |
S18A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,886 (GRCm39) |
T4A |
probably benign |
Het |
| Mettl23 |
G |
A |
11: 116,739,185 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,479,817 (GRCm39) |
W54R |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,803,606 (GRCm39) |
Y286H |
probably damaging |
Het |
| Or10d5j |
T |
A |
9: 39,868,265 (GRCm39) |
M1L |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,582,922 (GRCm39) |
I326V |
probably benign |
Het |
| Or5ac15 |
C |
T |
16: 58,939,899 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pmch |
A |
G |
10: 87,927,614 (GRCm39) |
Y105C |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,819,676 (GRCm39) |
T57A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,838 (GRCm39) |
E877G |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,566 (GRCm39) |
V433A |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Scara5 |
C |
T |
14: 65,927,234 (GRCm39) |
R44W |
probably damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,576 (GRCm39) |
K49T |
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,180 (GRCm39) |
I424T |
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,693,735 (GRCm39) |
S479T |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,929,456 (GRCm39) |
D1139G |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,152,353 (GRCm39) |
I2206V |
possibly damaging |
Het |
| Tpk1 |
T |
C |
6: 43,642,711 (GRCm39) |
E9G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,642,645 (GRCm39) |
V13297I |
possibly damaging |
Het |
| Uchl3 |
T |
C |
14: 101,932,655 (GRCm39) |
|
probably null |
Het |
| Usp12 |
T |
C |
5: 146,688,751 (GRCm39) |
D201G |
probably damaging |
Het |
| Vmn1r193 |
C |
T |
13: 22,403,146 (GRCm39) |
R282H |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,244,440 (GRCm39) |
M80T |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,441,663 (GRCm39) |
L304P |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,663,566 (GRCm39) |
E682G |
probably 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 |
|
|
R1575:Vmn2r104
|
UTSW |
17 |
20,262,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- GCGAGTATACTAATGTTGCCTTATG -3'
(R):5'- GAATACTCCGGTTTTCACTTAGTCATC -3'
Sequencing Primer
(F):5'- ACAACTGTTGACCCTGAG -3'
(R):5'- CGGTTTTCACTTAGTCATCAATAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation