Incidental Mutation 'R8691:Vmn2r110'
| ID |
668400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r110
|
| Ensembl Gene |
ENSMUSG00000091259 |
| Gene Name |
vomeronasal 2, receptor 110 |
| Synonyms |
EG224582 |
| MMRRC Submission |
068545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R8691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20794091-20816521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20803404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 390
(D390E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169559]
|
| AlphaFold |
E9PWD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169559
AA Change: D390E
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129347
Gene: ENSMUSG00000091259
AA Change: D390E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
467 |
3.1e-33 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
5.2e-22 |
PFAM |
|
Pfam:7tm_3
|
594 |
831 |
4.2e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
T |
5: 30,310,287 (GRCm39) |
A24E |
unknown |
Het |
| Acap1 |
A |
G |
11: 69,781,003 (GRCm39) |
L117P |
probably damaging |
Het |
| Actl6b |
G |
A |
5: 137,565,585 (GRCm39) |
G394S |
probably damaging |
Het |
| Actr3b |
G |
T |
5: 26,030,202 (GRCm39) |
V177F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,839 (GRCm39) |
T341A |
probably benign |
Het |
| Agbl4 |
G |
T |
4: 111,520,156 (GRCm39) |
V474F |
probably benign |
Het |
| Atosa |
A |
T |
9: 74,917,335 (GRCm39) |
T652S |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,517 (GRCm39) |
S353P |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,017,141 (GRCm39) |
D224N |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,421,260 (GRCm39) |
N121Y |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,078 (GRCm39) |
Y773N |
possibly damaging |
Het |
| Cbfa2t2 |
C |
A |
2: 154,342,403 (GRCm39) |
P40T |
possibly damaging |
Het |
| Colec10 |
A |
C |
15: 54,298,420 (GRCm39) |
E60D |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,800,280 (GRCm39) |
V1647A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,471 (GRCm39) |
F222L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 138,969,774 (GRCm39) |
I97F |
possibly damaging |
Het |
| Deptor |
A |
C |
15: 55,083,596 (GRCm39) |
D388A |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,690,419 (GRCm39) |
K201E |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,850 (GRCm39) |
R854C |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,877,517 (GRCm39) |
I409V |
possibly damaging |
Het |
| Eif1ad16 |
T |
G |
12: 87,985,278 (GRCm39) |
K88N |
probably damaging |
Het |
| Esp31 |
G |
T |
17: 38,955,592 (GRCm39) |
L78F |
possibly damaging |
Het |
| Fam98c |
A |
T |
7: 28,852,889 (GRCm39) |
V48E |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,264 (GRCm39) |
E1517V |
possibly damaging |
Het |
| Fgfr1 |
A |
T |
8: 26,052,253 (GRCm39) |
D193V |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,775 (GRCm39) |
|
probably benign |
Het |
| Gm17078 |
A |
T |
14: 51,848,693 (GRCm39) |
F15I |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 63,480,321 (GRCm39) |
R45L |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,904,223 (GRCm39) |
V1175A |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,072 (GRCm39) |
I638V |
possibly damaging |
Het |
| Ighv6-7 |
A |
G |
12: 114,419,304 (GRCm39) |
V100A |
probably benign |
Het |
| Itch |
G |
T |
2: 155,052,478 (GRCm39) |
E693* |
probably null |
Het |
| Ivl |
G |
A |
3: 92,478,823 (GRCm39) |
S414L |
unknown |
Het |
| Kif5b |
T |
A |
18: 6,225,787 (GRCm39) |
N160I |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,306,881 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
C |
T |
12: 16,623,660 (GRCm39) |
|
probably benign |
Het |
| Malsu1 |
C |
A |
6: 49,052,171 (GRCm39) |
H130Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,297,676 (GRCm39) |
L787V |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,110,106 (GRCm39) |
R1738W |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,910 (GRCm39) |
T14A |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,358 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or51d1 |
C |
T |
7: 102,347,777 (GRCm39) |
Q111* |
probably null |
Het |
| Or7e176 |
T |
A |
9: 20,171,747 (GRCm39) |
S204T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,706 (GRCm39) |
T364A |
unknown |
Het |
| Phlda2 |
A |
C |
7: 143,056,206 (GRCm39) |
S8A |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,551,549 (GRCm39) |
G17E |
unknown |
Het |
| Ppfibp2 |
A |
G |
7: 107,346,785 (GRCm39) |
D899G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,833 (GRCm39) |
V171A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,513 (GRCm39) |
T1262A |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,077 (GRCm39) |
V243A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,427,182 (GRCm39) |
N1162K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,602,005 (GRCm39) |
L1419* |
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,880,313 (GRCm39) |
C1954R |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,161 (GRCm39) |
I622F |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,110 (GRCm39) |
E673G |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,262,110 (GRCm39) |
I340T |
probably damaging |
Het |
|
| Other mutations in Vmn2r110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01774:Vmn2r110
|
APN |
17 |
20,803,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01824:Vmn2r110
|
APN |
17 |
20,794,929 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01879:Vmn2r110
|
APN |
17 |
20,794,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02168:Vmn2r110
|
APN |
17 |
20,804,062 (GRCm39) |
splice site |
probably benign |
|
|
IGL02178:Vmn2r110
|
APN |
17 |
20,804,706 (GRCm39) |
splice site |
probably null |
|
|
IGL02322:Vmn2r110
|
APN |
17 |
20,794,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Vmn2r110
|
APN |
17 |
20,816,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02415:Vmn2r110
|
APN |
17 |
20,804,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02491:Vmn2r110
|
APN |
17 |
20,816,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02876:Vmn2r110
|
APN |
17 |
20,794,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03141:Vmn2r110
|
APN |
17 |
20,803,976 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03270:Vmn2r110
|
APN |
17 |
20,803,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Vmn2r110
|
APN |
17 |
20,804,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03379:Vmn2r110
|
APN |
17 |
20,803,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4243001:Vmn2r110
|
UTSW |
17 |
20,802,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0040:Vmn2r110
|
UTSW |
17 |
20,816,346 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0195:Vmn2r110
|
UTSW |
17 |
20,794,317 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0716:Vmn2r110
|
UTSW |
17 |
20,794,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1199:Vmn2r110
|
UTSW |
17 |
20,803,525 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1767:Vmn2r110
|
UTSW |
17 |
20,800,840 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2212:Vmn2r110
|
UTSW |
17 |
20,794,209 (GRCm39) |
splice site |
probably null |
|
|
R3056:Vmn2r110
|
UTSW |
17 |
20,803,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Vmn2r110
|
UTSW |
17 |
20,803,642 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4418:Vmn2r110
|
UTSW |
17 |
20,803,951 (GRCm39) |
nonsense |
probably null |
|
|
R4598:Vmn2r110
|
UTSW |
17 |
20,804,029 (GRCm39) |
nonsense |
probably null |
|
|
R4754:Vmn2r110
|
UTSW |
17 |
20,816,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5283:Vmn2r110
|
UTSW |
17 |
20,800,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5421:Vmn2r110
|
UTSW |
17 |
20,803,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5672:Vmn2r110
|
UTSW |
17 |
20,816,494 (GRCm39) |
missense |
probably benign |
|
|
R5865:Vmn2r110
|
UTSW |
17 |
20,804,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6642:Vmn2r110
|
UTSW |
17 |
20,803,779 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6799:Vmn2r110
|
UTSW |
17 |
20,803,798 (GRCm39) |
missense |
probably benign |
|
|
R7167:Vmn2r110
|
UTSW |
17 |
20,794,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7291:Vmn2r110
|
UTSW |
17 |
20,794,471 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7320:Vmn2r110
|
UTSW |
17 |
20,816,316 (GRCm39) |
missense |
probably benign |
|
|
R7519:Vmn2r110
|
UTSW |
17 |
20,804,524 (GRCm39) |
missense |
probably benign |
|
|
R8089:Vmn2r110
|
UTSW |
17 |
20,803,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8234:Vmn2r110
|
UTSW |
17 |
20,804,691 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8272:Vmn2r110
|
UTSW |
17 |
20,816,490 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8307:Vmn2r110
|
UTSW |
17 |
20,803,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8506:Vmn2r110
|
UTSW |
17 |
20,804,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8516:Vmn2r110
|
UTSW |
17 |
20,794,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Vmn2r110
|
UTSW |
17 |
20,804,618 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8859:Vmn2r110
|
UTSW |
17 |
20,794,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8935:Vmn2r110
|
UTSW |
17 |
20,803,957 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8986:Vmn2r110
|
UTSW |
17 |
20,803,823 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9012:Vmn2r110
|
UTSW |
17 |
20,803,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Vmn2r110
|
UTSW |
17 |
20,794,471 (GRCm39) |
missense |
|
|
|
R9744:Vmn2r110
|
UTSW |
17 |
20,794,848 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9803:Vmn2r110
|
UTSW |
17 |
20,803,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn2r110
|
UTSW |
17 |
20,803,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAACTCATATATCAGGGTGC -3'
(R):5'- ATGTTTGACTCTTTCCATGGTAGC -3'
Sequencing Primer
(F):5'- AAGAAGGCCATTGCTTCC -3'
(R):5'- TACCCACAAGTATAGAGAGAGCTTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation