Incidental Mutation 'R8041:Vmn2r19'
ID |
618523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r19
|
Ensembl Gene |
ENSMUSG00000091260 |
Gene Name |
vomeronasal 2, receptor 19 |
Synonyms |
EG232358 |
MMRRC Submission |
067478-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R8041 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
123285292-123313496 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123312750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 607
(S607P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073948]
|
AlphaFold |
G5E8G4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073948
AA Change: S607P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073604 Gene: ENSMUSG00000091260 AA Change: S607P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l1 |
A |
T |
18: 61,891,754 (GRCm39) |
L21Q |
probably damaging |
Het |
Ago1 |
G |
A |
4: 126,335,729 (GRCm39) |
R661C |
probably damaging |
Het |
Albfm1 |
T |
A |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
Aoc3 |
T |
C |
11: 101,223,132 (GRCm39) |
V456A |
probably benign |
Het |
Aopep |
G |
C |
13: 63,180,921 (GRCm39) |
W294C |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,547,311 (GRCm39) |
F1223L |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,122,507 (GRCm39) |
F33S |
possibly damaging |
Het |
Ccnjl |
T |
C |
11: 43,470,538 (GRCm39) |
V102A |
probably damaging |
Het |
Cd48 |
T |
C |
1: 171,526,958 (GRCm39) |
V128A |
probably damaging |
Het |
Cmah |
A |
G |
13: 24,652,601 (GRCm39) |
D577G |
probably benign |
Het |
Cnnm4 |
A |
G |
1: 36,511,174 (GRCm39) |
K134R |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,187,209 (GRCm39) |
Y594N |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,318,626 (GRCm39) |
E1375G |
unknown |
Het |
Comtd1 |
T |
A |
14: 21,897,985 (GRCm39) |
E153V |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,404,395 (GRCm39) |
T2716S |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,762,928 (GRCm39) |
S143T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,656,885 (GRCm39) |
D593G |
possibly damaging |
Het |
Dok6 |
A |
G |
18: 89,578,213 (GRCm39) |
I68T |
possibly damaging |
Het |
Dpysl5 |
A |
G |
5: 30,953,658 (GRCm39) |
I563V |
probably benign |
Het |
Eapp |
A |
G |
12: 54,739,650 (GRCm39) |
S56P |
probably damaging |
Het |
Efcab3 |
T |
G |
11: 104,810,305 (GRCm39) |
D3147E |
unknown |
Het |
Fgd5 |
A |
T |
6: 92,038,837 (GRCm39) |
D1157V |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,194,939 (GRCm39) |
L213Q |
unknown |
Het |
Foxo1 |
T |
A |
3: 52,253,044 (GRCm39) |
Y402* |
probably null |
Het |
Fyb2 |
C |
A |
4: 104,857,681 (GRCm39) |
F619L |
possibly damaging |
Het |
Gtf2i |
A |
T |
5: 134,322,599 (GRCm39) |
|
probably null |
Het |
Hrh1 |
G |
A |
6: 114,456,878 (GRCm39) |
R53H |
not run |
Het |
Hydin |
A |
T |
8: 111,301,626 (GRCm39) |
M3786L |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,555,268 (GRCm39) |
R805G |
possibly damaging |
Het |
Igfn1 |
C |
A |
1: 135,895,797 (GRCm39) |
G1590* |
probably null |
Het |
Jph3 |
A |
C |
8: 122,516,201 (GRCm39) |
I740L |
probably benign |
Het |
Kbtbd7 |
T |
A |
14: 79,666,144 (GRCm39) |
F659I |
probably benign |
Het |
Kcns2 |
A |
T |
15: 34,839,291 (GRCm39) |
Q218L |
probably benign |
Het |
Kcnt2 |
A |
G |
1: 140,537,398 (GRCm39) |
N1119S |
probably benign |
Het |
Krit1 |
A |
T |
5: 3,857,309 (GRCm39) |
H38L |
probably benign |
Het |
Krt20 |
T |
A |
11: 99,328,663 (GRCm39) |
R87S |
probably damaging |
Het |
Ly6g5c |
A |
G |
17: 35,330,808 (GRCm39) |
E110G |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,454,707 (GRCm39) |
F1035S |
probably damaging |
Het |
Mmp13 |
A |
T |
9: 7,280,865 (GRCm39) |
D416V |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nrap |
A |
T |
19: 56,352,768 (GRCm39) |
L566* |
probably null |
Het |
Or12d17 |
T |
C |
17: 37,777,540 (GRCm39) |
F148L |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,096,488 (GRCm39) |
C95* |
probably null |
Het |
Or51ai2 |
T |
C |
7: 103,586,788 (GRCm39) |
L67P |
probably damaging |
Het |
Or5p69 |
T |
C |
7: 107,966,741 (GRCm39) |
F15L |
probably damaging |
Het |
Pcdhb19 |
T |
C |
18: 37,630,367 (GRCm39) |
L54P |
possibly damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,259,519 (GRCm39) |
F1272S |
probably damaging |
Het |
Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
Reep4 |
T |
C |
14: 70,785,627 (GRCm39) |
Y186H |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,356,702 (GRCm39) |
T89A |
possibly damaging |
Het |
Shc1 |
T |
C |
3: 89,330,260 (GRCm39) |
S175P |
probably damaging |
Het |
Sipa1l3 |
A |
G |
7: 29,063,645 (GRCm39) |
S1156P |
probably damaging |
Het |
Slc1a3 |
G |
A |
15: 8,665,683 (GRCm39) |
P522L |
probably benign |
Het |
Slc6a17 |
T |
A |
3: 107,381,744 (GRCm39) |
T446S |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,387,290 (GRCm39) |
N250Y |
possibly damaging |
Het |
Tex15 |
G |
T |
8: 34,065,874 (GRCm39) |
R1768L |
probably damaging |
Het |
Ttll9 |
G |
C |
2: 152,844,956 (GRCm39) |
Q441H |
possibly damaging |
Het |
Unc5c |
T |
A |
3: 141,171,545 (GRCm39) |
V24E |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,054,726 (GRCm39) |
E888G |
probably benign |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,875,965 (GRCm39) |
|
probably null |
Het |
Zbtb49 |
T |
C |
5: 38,358,198 (GRCm39) |
D685G |
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 |
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 |
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'- ATGTATTAAACCAATCTGCCTCCC -3'
(R):5'- TGGCATTGAAGGCAACAACC -3'
Sequencing Primer
(F):5'- GCCTCCCTTTCAGATATGGATCAATG -3'
(R):5'- GGCAACAACCACAATGAAGGTTTTTG -3'
|
Posted On |
2020-01-23 |