Incidental Mutation 'R5502:Vmn2r13'
| ID |
430657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r13
|
| Ensembl Gene |
ENSMUSG00000091635 |
| Gene Name |
vomeronasal 2, receptor 13 |
| Synonyms |
Gm4867 |
| MMRRC Submission |
043063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5502 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109303889-109339973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109321580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 372
(N372K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
| AlphaFold |
L7N1X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053253
AA Change: N372K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052977
Gene: ENSMUSG00000091635
AA Change: N372K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.0%
- 20x: 90.2%
|
| Validation Efficiency |
98% (84/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,758,262 (GRCm39) |
I1268T |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,687,289 (GRCm39) |
|
probably null |
Het |
| Actmap |
A |
G |
7: 26,896,542 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,756,291 (GRCm39) |
I842F |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,415,370 (GRCm39) |
L98Q |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,286 (GRCm39) |
V299A |
probably benign |
Het |
| Cabp4 |
G |
A |
19: 4,181,228 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,679,155 (GRCm39) |
H324L |
possibly damaging |
Het |
| Chd4 |
G |
A |
6: 125,082,239 (GRCm39) |
R576Q |
possibly damaging |
Het |
| Cndp1 |
A |
G |
18: 84,650,138 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cntn3 |
A |
C |
6: 102,242,295 (GRCm39) |
V450G |
possibly damaging |
Het |
| Col5a2 |
C |
A |
1: 45,419,286 (GRCm39) |
G1265W |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,473,449 (GRCm39) |
Q754* |
probably null |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,702 (GRCm39) |
N291S |
probably benign |
Het |
| Dap3 |
T |
C |
3: 88,832,633 (GRCm39) |
Y353C |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,450 (GRCm39) |
V990A |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,594 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
A |
16: 93,590,114 (GRCm39) |
V179E |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,836 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
A |
T |
4: 104,802,521 (GRCm39) |
Q141L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,227 (GRCm39) |
L178* |
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,088,364 (GRCm39) |
K25* |
probably null |
Het |
| Gm17067 |
A |
T |
7: 42,357,843 (GRCm39) |
C220S |
probably damaging |
Het |
| Gm4868 |
A |
G |
5: 125,925,042 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
GT |
GTT |
9: 118,388,125 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,614,252 (GRCm39) |
N596S |
probably damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,057 (GRCm39) |
D219G |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,513,854 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
| Ide |
C |
A |
19: 37,307,855 (GRCm39) |
K52N |
unknown |
Het |
| Incenp |
C |
A |
19: 9,870,728 (GRCm39) |
L300F |
unknown |
Het |
| Ino80 |
T |
C |
2: 119,232,877 (GRCm39) |
Y1147C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,207,702 (GRCm39) |
Y49* |
probably null |
Het |
| Mmp15 |
A |
T |
8: 96,094,812 (GRCm39) |
T229S |
possibly damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,504,904 (GRCm39) |
N1133I |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,411,250 (GRCm39) |
G284R |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,448,381 (GRCm39) |
I52T |
probably damaging |
Het |
| Nat8f5 |
G |
T |
6: 85,794,635 (GRCm39) |
F108L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,350,158 (GRCm39) |
H2402Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 151,943,941 (GRCm39) |
E331D |
probably damaging |
Het |
| Nktr |
C |
T |
9: 121,577,672 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
T |
C |
3: 94,342,392 (GRCm39) |
D88G |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,282 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or4l1 |
A |
G |
14: 50,166,993 (GRCm39) |
Y3H |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,656 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,605 (GRCm39) |
D483V |
possibly damaging |
Het |
| Pde5a |
G |
T |
3: 122,596,681 (GRCm39) |
G456V |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,919 (GRCm39) |
T1298A |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,685,064 (GRCm39) |
V303A |
probably damaging |
Het |
| Rbbp6 |
T |
G |
7: 122,587,947 (GRCm39) |
M267R |
probably damaging |
Het |
| Rfx8 |
C |
A |
1: 39,722,113 (GRCm39) |
V291F |
probably damaging |
Het |
| Rnf121 |
T |
C |
7: 101,672,555 (GRCm39) |
K276R |
probably null |
Het |
| Rtca |
G |
T |
3: 116,282,931 (GRCm39) |
Y352* |
probably null |
Het |
| Rusf1 |
C |
T |
7: 127,884,308 (GRCm39) |
V225M |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,443,549 (GRCm39) |
V1865A |
probably damaging |
Het |
| Sclt1 |
C |
T |
3: 41,611,710 (GRCm39) |
E521K |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,396,420 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
G |
T |
9: 44,313,394 (GRCm39) |
V337L |
probably benign |
Het |
| Slc5a9 |
G |
T |
4: 111,750,366 (GRCm39) |
S79* |
probably null |
Het |
| Snrpd2 |
T |
C |
7: 18,885,247 (GRCm39) |
V36A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,486 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,834,673 (GRCm39) |
V98I |
possibly damaging |
Het |
| Strip2 |
A |
T |
6: 29,927,623 (GRCm39) |
I223F |
probably benign |
Het |
| Syn2 |
A |
C |
6: 115,255,313 (GRCm39) |
N542H |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,496 (GRCm39) |
T327A |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,319,992 (GRCm39) |
F59I |
possibly damaging |
Het |
| Tmem41b |
A |
T |
7: 109,581,970 (GRCm39) |
C44* |
probably null |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Tusc3 |
A |
T |
8: 39,597,947 (GRCm39) |
K188* |
probably null |
Het |
| Usp39 |
T |
A |
6: 72,305,670 (GRCm39) |
Q371L |
probably benign |
Het |
| Zfp961 |
T |
A |
8: 72,721,903 (GRCm39) |
Y139N |
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 |
|
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 |
|
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'- AGAAACTTTACCTGCTGACAGTC -3'
(R):5'- ACCTCACAATGGGATGTTGTCAC -3'
Sequencing Primer
(F):5'- CTGACAGTCAGTGAATATTCCTTTGG -3'
(R):5'- TTCATGGGACTGTTACTTTTGCACAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation