Incidental Mutation 'R7719:Vmn2r13'
| ID |
595105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r13
|
| Ensembl Gene |
ENSMUSG00000091635 |
| Gene Name |
vomeronasal 2, receptor 13 |
| Synonyms |
Gm4867 |
| MMRRC Submission |
045776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109303889-109339973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109319618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 454
(N454S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
| AlphaFold |
L7N1X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053253
AA Change: N454S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000052977
Gene: ENSMUSG00000091635
AA Change: N454S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
T |
A |
1: 155,562,758 (GRCm39) |
L253H |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,303 (GRCm39) |
V238A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,628,083 (GRCm39) |
H774L |
possibly damaging |
Het |
| Anapc15 |
T |
C |
7: 101,550,236 (GRCm39) |
L150P |
unknown |
Het |
| Ano8 |
G |
T |
8: 71,935,784 (GRCm39) |
T278K |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,074 (GRCm39) |
K618E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,028,981 (GRCm39) |
S1142L |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,190,813 (GRCm39) |
E471D |
probably damaging |
Het |
| Cks1b |
T |
C |
3: 89,323,635 (GRCm39) |
N45D |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,321,769 (GRCm39) |
T296A |
probably damaging |
Het |
| Cluap1 |
C |
T |
16: 3,727,467 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,704,903 (GRCm39) |
D632V |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,920,591 (GRCm39) |
Q593* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,913,846 (GRCm39) |
I457K |
probably benign |
Het |
| Crybb3 |
G |
T |
5: 113,223,834 (GRCm39) |
Q192K |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,383 (GRCm39) |
A123T |
probably benign |
Het |
| Cyp2b13 |
C |
T |
7: 25,795,095 (GRCm39) |
A442V |
probably damaging |
Het |
| Cyp2j9 |
G |
A |
4: 96,457,079 (GRCm39) |
T464I |
probably benign |
Het |
| Cyp4a29 |
G |
A |
4: 115,108,137 (GRCm39) |
G320R |
possibly damaging |
Het |
| Dbp |
T |
C |
7: 45,359,174 (GRCm39) |
I283T |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 105,002,674 (GRCm39) |
I303T |
probably benign |
Het |
| Efcab8 |
T |
A |
2: 153,629,665 (GRCm39) |
V166D |
|
Het |
| Efhc1 |
A |
T |
1: 21,049,744 (GRCm39) |
I535F |
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,560,409 (GRCm39) |
I319V |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,035,900 (GRCm39) |
T193A |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,504,913 (GRCm39) |
N510S |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,284,841 (GRCm39) |
C1221R |
possibly damaging |
Het |
| Gm6741 |
A |
C |
17: 91,544,472 (GRCm39) |
E78D |
probably benign |
Het |
| Gpam |
C |
T |
19: 55,070,102 (GRCm39) |
V385I |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,059 (GRCm39) |
V174A |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,813 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,441,080 (GRCm39) |
D5509V |
possibly damaging |
Het |
| Hoxc13 |
A |
T |
15: 102,830,293 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Igsf3 |
G |
A |
3: 101,342,857 (GRCm39) |
R478H |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,486 (GRCm39) |
Q532R |
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,162,215 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,544,395 (GRCm39) |
D33G |
probably null |
Het |
| Mex3c |
G |
T |
18: 73,723,061 (GRCm39) |
A385S |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,051,366 (GRCm39) |
S320T |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,617 (GRCm39) |
N314K |
possibly damaging |
Het |
| Omg |
T |
A |
11: 79,393,059 (GRCm39) |
E266D |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,603 (GRCm39) |
M57K |
probably damaging |
Het |
| Paqr9 |
T |
A |
9: 95,442,829 (GRCm39) |
V273E |
possibly damaging |
Het |
| Phkg1 |
G |
A |
5: 129,902,699 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,960,901 (GRCm39) |
K452E |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,974 (GRCm39) |
I86N |
|
Het |
| Prl2c1 |
G |
T |
13: 28,035,780 (GRCm39) |
A51S |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,706,466 (GRCm39) |
H108Q |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,107,280 (GRCm39) |
C1614* |
probably null |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,381,461 (GRCm39) |
D281G |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,228,853 (GRCm39) |
I633T |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,496 (GRCm39) |
D61G |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,745,229 (GRCm39) |
S2055P |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,830,803 (GRCm39) |
A477T |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,352,469 (GRCm39) |
E129G |
probably damaging |
Het |
| Stard10 |
C |
T |
7: 100,995,320 (GRCm39) |
A78V |
not run |
Het |
| Stard3 |
T |
C |
11: 98,266,502 (GRCm39) |
V127A |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,068,523 (GRCm39) |
P3088S |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,440,489 (GRCm39) |
D508G |
probably damaging |
Het |
| Tgm2 |
T |
A |
2: 157,985,038 (GRCm39) |
T23S |
probably damaging |
Het |
| Ttll10 |
G |
T |
4: 156,131,665 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,738 (GRCm39) |
S741T |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Wnt8a |
T |
C |
18: 34,680,588 (GRCm39) |
W318R |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,001,243 (GRCm39) |
L87H |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,901,212 (GRCm39) |
N380K |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,145,725 (GRCm39) |
V19A |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
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 |
|
R5819:Vmn2r13
|
UTSW |
5 |
109,321,966 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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'- CCAGAATTATTACTCATGTGCCTC -3'
(R):5'- GAGGGATTACTTTAATACAGCTGTC -3'
Sequencing Primer
(F):5'- GTTGACTCTGGTGGAAAC -3'
(R):5'- AAAGCATCTCACTTAGGTG -3'
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| Posted On |
2019-11-12 |
Incidental Mutation