Incidental Mutation 'R3753:Vmn2r19'
| ID |
271310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r19
|
| Ensembl Gene |
ENSMUSG00000091260 |
| Gene Name |
vomeronasal 2, receptor 19 |
| Synonyms |
EG232358 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123285292-123313496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123292548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 197
(T197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073948]
|
| AlphaFold |
G5E8G4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073948
AA Change: T197S
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073604
Gene: ENSMUSG00000091260
AA Change: T197S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
476 |
2.9e-35 |
PFAM |
|
Pfam:NCD3G
|
518 |
571 |
8.3e-23 |
PFAM |
|
Pfam:7tm_3
|
603 |
839 |
7.2e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably damaging |
Het |
|
| Other mutations in Vmn2r19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Vmn2r19
|
APN |
6 |
123,306,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02294:Vmn2r19
|
APN |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02442:Vmn2r19
|
APN |
6 |
123,286,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02871:Vmn2r19
|
APN |
6 |
123,313,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Vmn2r19
|
UTSW |
6 |
123,292,861 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0025:Vmn2r19
|
UTSW |
6 |
123,308,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0389:Vmn2r19
|
UTSW |
6 |
123,312,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0402:Vmn2r19
|
UTSW |
6 |
123,313,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Vmn2r19
|
UTSW |
6 |
123,286,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0554:Vmn2r19
|
UTSW |
6 |
123,313,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0578:Vmn2r19
|
UTSW |
6 |
123,312,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Vmn2r19
|
UTSW |
6 |
123,313,132 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1652:Vmn2r19
|
UTSW |
6 |
123,292,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1663:Vmn2r19
|
UTSW |
6 |
123,313,411 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1817:Vmn2r19
|
UTSW |
6 |
123,307,011 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1866:Vmn2r19
|
UTSW |
6 |
123,308,597 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1928:Vmn2r19
|
UTSW |
6 |
123,308,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Vmn2r19
|
UTSW |
6 |
123,292,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2013:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2015:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2088:Vmn2r19
|
UTSW |
6 |
123,312,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Vmn2r19
|
UTSW |
6 |
123,293,033 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2128:Vmn2r19
|
UTSW |
6 |
123,285,289 (GRCm39) |
splice site |
probably null |
|
|
R2256:Vmn2r19
|
UTSW |
6 |
123,306,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2517:Vmn2r19
|
UTSW |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3817:Vmn2r19
|
UTSW |
6 |
123,286,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3929:Vmn2r19
|
UTSW |
6 |
123,292,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3934:Vmn2r19
|
UTSW |
6 |
123,292,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Vmn2r19
|
UTSW |
6 |
123,306,871 (GRCm39) |
missense |
probably benign |
|
|
R4574:Vmn2r19
|
UTSW |
6 |
123,292,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4886:Vmn2r19
|
UTSW |
6 |
123,286,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4995:Vmn2r19
|
UTSW |
6 |
123,306,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5107:Vmn2r19
|
UTSW |
6 |
123,286,602 (GRCm39) |
nonsense |
probably null |
|
|
R5232:Vmn2r19
|
UTSW |
6 |
123,312,916 (GRCm39) |
missense |
probably benign |
|
|
R6102:Vmn2r19
|
UTSW |
6 |
123,306,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Vmn2r19
|
UTSW |
6 |
123,293,054 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6280:Vmn2r19
|
UTSW |
6 |
123,313,212 (GRCm39) |
missense |
probably benign |
|
|
R6393:Vmn2r19
|
UTSW |
6 |
123,293,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6502:Vmn2r19
|
UTSW |
6 |
123,293,067 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6617:Vmn2r19
|
UTSW |
6 |
123,313,494 (GRCm39) |
makesense |
probably null |
|
|
R6742:Vmn2r19
|
UTSW |
6 |
123,306,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7662:Vmn2r19
|
UTSW |
6 |
123,308,521 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8041:Vmn2r19
|
UTSW |
6 |
123,312,750 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8054:Vmn2r19
|
UTSW |
6 |
123,292,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Vmn2r19
|
UTSW |
6 |
123,312,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8267:Vmn2r19
|
UTSW |
6 |
123,313,221 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8287:Vmn2r19
|
UTSW |
6 |
123,308,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Vmn2r19
|
UTSW |
6 |
123,293,283 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9058:Vmn2r19
|
UTSW |
6 |
123,313,021 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9119:Vmn2r19
|
UTSW |
6 |
123,292,527 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9384:Vmn2r19
|
UTSW |
6 |
123,292,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0058:Vmn2r19
|
UTSW |
6 |
123,285,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn2r19
|
UTSW |
6 |
123,285,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Vmn2r19
|
UTSW |
6 |
123,313,036 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCGTGACCCTGTTTGATAC -3'
(R):5'- GTCTTTAGCAGGAAATTCTGGAAC -3'
Sequencing Primer
(F):5'- TGATGGATCATAAGTAACAAAGTGG -3'
(R):5'- GCAGGAAATTCTGGAACTTTTTCTGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation