Incidental Mutation 'R5819:Vmn2r13'
ID |
449216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r13
|
Ensembl Gene |
ENSMUSG00000091635 |
Gene Name |
vomeronasal 2, receptor 13 |
Synonyms |
Gm4867 |
MMRRC Submission |
043399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5819 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
109303889-109339973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109321966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 244
(M244L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
AlphaFold |
L7N1X2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053253
AA Change: M244L
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000052977 Gene: ENSMUSG00000091635 AA Change: M244L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
463 |
2.8e-29 |
PFAM |
Pfam:NCD3G
|
506 |
560 |
1.3e-18 |
PFAM |
Pfam:7tm_3
|
593 |
828 |
1.8e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
Chek1 |
T |
A |
9: 36,621,701 (GRCm39) |
H420L |
probably benign |
Het |
Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
Klhdc8b |
G |
A |
9: 108,328,261 (GRCm39) |
P64S |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
Mtcl3 |
A |
T |
10: 29,073,269 (GRCm39) |
M854L |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
Rgl3 |
A |
T |
9: 21,892,898 (GRCm39) |
|
probably null |
Het |
Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Zfp777 |
C |
T |
6: 48,014,522 (GRCm39) |
E395K |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
Het |
|
Other mutations in Vmn2r13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00965:Vmn2r13
|
APN |
5 |
109,303,964 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01373:Vmn2r13
|
APN |
5 |
109,304,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01946:Vmn2r13
|
APN |
5 |
109,322,085 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01971:Vmn2r13
|
APN |
5 |
109,321,981 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02636:Vmn2r13
|
APN |
5 |
109,339,883 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03062:Vmn2r13
|
APN |
5 |
109,304,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03173:Vmn2r13
|
APN |
5 |
109,319,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03301:Vmn2r13
|
APN |
5 |
109,305,955 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03383:Vmn2r13
|
APN |
5 |
109,304,398 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03048:Vmn2r13
|
UTSW |
5 |
109,304,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R0123:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
R0134:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
R0220:Vmn2r13
|
UTSW |
5 |
109,304,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R0225:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
R0393:Vmn2r13
|
UTSW |
5 |
109,304,395 (GRCm39) |
missense |
probably benign |
0.01 |
R0410:Vmn2r13
|
UTSW |
5 |
109,321,679 (GRCm39) |
missense |
probably benign |
0.35 |
R0787:Vmn2r13
|
UTSW |
5 |
109,304,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R1200:Vmn2r13
|
UTSW |
5 |
109,322,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Vmn2r13
|
UTSW |
5 |
109,322,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Vmn2r13
|
UTSW |
5 |
109,306,040 (GRCm39) |
missense |
probably benign |
0.08 |
R1939:Vmn2r13
|
UTSW |
5 |
109,339,852 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2029:Vmn2r13
|
UTSW |
5 |
109,339,943 (GRCm39) |
missense |
probably benign |
0.13 |
R2125:Vmn2r13
|
UTSW |
5 |
109,306,058 (GRCm39) |
missense |
probably benign |
0.00 |
R2126:Vmn2r13
|
UTSW |
5 |
109,306,058 (GRCm39) |
missense |
probably benign |
0.00 |
R2379:Vmn2r13
|
UTSW |
5 |
109,319,644 (GRCm39) |
missense |
probably benign |
0.05 |
R2680:Vmn2r13
|
UTSW |
5 |
109,322,178 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2888:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2889:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2890:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3014:Vmn2r13
|
UTSW |
5 |
109,319,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3683:Vmn2r13
|
UTSW |
5 |
109,304,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Vmn2r13
|
UTSW |
5 |
109,304,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Vmn2r13
|
UTSW |
5 |
109,304,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R4614:Vmn2r13
|
UTSW |
5 |
109,323,065 (GRCm39) |
missense |
probably benign |
0.01 |
R4805:Vmn2r13
|
UTSW |
5 |
109,304,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Vmn2r13
|
UTSW |
5 |
109,321,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R4943:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
R5263:Vmn2r13
|
UTSW |
5 |
109,321,841 (GRCm39) |
missense |
probably benign |
0.00 |
R5297:Vmn2r13
|
UTSW |
5 |
109,339,805 (GRCm39) |
missense |
probably benign |
0.00 |
R5502:Vmn2r13
|
UTSW |
5 |
109,321,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5554:Vmn2r13
|
UTSW |
5 |
109,339,860 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5563:Vmn2r13
|
UTSW |
5 |
109,321,846 (GRCm39) |
missense |
probably benign |
0.00 |
R6074:Vmn2r13
|
UTSW |
5 |
109,322,167 (GRCm39) |
missense |
probably benign |
0.04 |
R6416:Vmn2r13
|
UTSW |
5 |
109,321,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R6419:Vmn2r13
|
UTSW |
5 |
109,323,085 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6484:Vmn2r13
|
UTSW |
5 |
109,304,540 (GRCm39) |
nonsense |
probably null |
|
R6486:Vmn2r13
|
UTSW |
5 |
109,304,425 (GRCm39) |
missense |
probably benign |
0.05 |
R6545:Vmn2r13
|
UTSW |
5 |
109,304,806 (GRCm39) |
splice site |
probably null |
|
R6700:Vmn2r13
|
UTSW |
5 |
109,322,938 (GRCm39) |
missense |
probably benign |
0.00 |
R6897:Vmn2r13
|
UTSW |
5 |
109,306,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6957:Vmn2r13
|
UTSW |
5 |
109,304,753 (GRCm39) |
nonsense |
probably null |
|
R7276:Vmn2r13
|
UTSW |
5 |
109,321,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7363:Vmn2r13
|
UTSW |
5 |
109,339,909 (GRCm39) |
missense |
probably benign |
0.03 |
R7443:Vmn2r13
|
UTSW |
5 |
109,339,909 (GRCm39) |
missense |
probably benign |
0.03 |
R7555:Vmn2r13
|
UTSW |
5 |
109,319,557 (GRCm39) |
splice site |
probably null |
|
R7607:Vmn2r13
|
UTSW |
5 |
109,321,506 (GRCm39) |
missense |
probably damaging |
0.98 |
R7719:Vmn2r13
|
UTSW |
5 |
109,319,618 (GRCm39) |
missense |
probably benign |
0.00 |
R8116:Vmn2r13
|
UTSW |
5 |
109,322,926 (GRCm39) |
missense |
probably benign |
0.12 |
R8242:Vmn2r13
|
UTSW |
5 |
109,322,872 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8294:Vmn2r13
|
UTSW |
5 |
109,322,978 (GRCm39) |
missense |
probably benign |
0.02 |
R8340:Vmn2r13
|
UTSW |
5 |
109,322,006 (GRCm39) |
missense |
probably benign |
0.00 |
R8692:Vmn2r13
|
UTSW |
5 |
109,319,514 (GRCm39) |
missense |
probably benign |
0.03 |
R8742:Vmn2r13
|
UTSW |
5 |
109,304,263 (GRCm39) |
missense |
probably benign |
0.02 |
R9022:Vmn2r13
|
UTSW |
5 |
109,304,242 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9281:Vmn2r13
|
UTSW |
5 |
109,303,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R9529:Vmn2r13
|
UTSW |
5 |
109,304,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Vmn2r13
|
UTSW |
5 |
109,322,007 (GRCm39) |
missense |
probably benign |
0.00 |
R9746:Vmn2r13
|
UTSW |
5 |
109,339,773 (GRCm39) |
critical splice donor site |
probably null |
|
X0066:Vmn2r13
|
UTSW |
5 |
109,304,085 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGCAAAAGTAACAGTCCC -3'
(R):5'- CACACATTTGTCCCATGGC -3'
Sequencing Primer
(F):5'- TGCAAAAGTAACAGTCCCATGAAAG -3'
(R):5'- CCATGGCATGGTCTCCTTGATG -3'
|
Posted On |
2016-12-20 |