Incidental Mutation 'R4232:Vmn2r19'
| ID |
320907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r19
|
| Ensembl Gene |
ENSMUSG00000091260 |
| Gene Name |
vomeronasal 2, receptor 19 |
| Synonyms |
EG232358 |
| MMRRC Submission |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123285292-123313496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123306871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 460
(V460I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073948]
|
| AlphaFold |
G5E8G4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073948
AA Change: V460I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073604
Gene: ENSMUSG00000091260
AA Change: V460I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
| Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly 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 |
|
R3753:Vmn2r19
|
UTSW |
6 |
123,292,548 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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'- GGATTAGCCCTATGACAAATGTTTG -3'
(R):5'- AGAACAGCACATGGTTCTGAAC -3'
Sequencing Primer
(F):5'- AGCCCTATGACAAATGTTTGATATAC -3'
(R):5'- GCACATGGTTCTGAACACAAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation