Incidental Mutation 'R0393:Vmn2r13'
| ID |
31786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r13
|
| Ensembl Gene |
ENSMUSG00000091635 |
| Gene Name |
vomeronasal 2, receptor 13 |
| Synonyms |
Gm4867 |
| MMRRC Submission |
038599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R0393 (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 C
at 109304395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 679
(T679A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
| AlphaFold |
L7N1X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053253
AA Change: T679A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000052977
Gene: ENSMUSG00000091635
AA Change: T679A
| 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: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,591,604 (GRCm39) |
|
probably benign |
Het |
| Akr1b7 |
T |
G |
6: 34,392,335 (GRCm39) |
Y49* |
probably null |
Het |
| Ankrd10 |
G |
T |
8: 11,685,482 (GRCm39) |
R46S |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,085,681 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,965,221 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
T |
13: 49,533,346 (GRCm39) |
T644M |
probably damaging |
Het |
| Ccr9 |
A |
T |
9: 123,609,035 (GRCm39) |
H239L |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,408 (GRCm39) |
N485Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,919,400 (GRCm39) |
S131C |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,076 (GRCm39) |
S116R |
probably benign |
Het |
| Crym |
T |
C |
7: 119,788,972 (GRCm39) |
K285R |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,293 (GRCm39) |
I359F |
possibly damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,359 (GRCm39) |
|
probably benign |
Het |
| Dcpp3 |
A |
T |
17: 24,136,925 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,364 (GRCm39) |
I1340K |
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,111,277 (GRCm39) |
C144R |
probably damaging |
Het |
| Gm1553 |
T |
C |
10: 82,328,010 (GRCm39) |
R66G |
unknown |
Het |
| Il10rb |
G |
A |
16: 91,208,898 (GRCm39) |
V103I |
probably benign |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,614 (GRCm39) |
W182R |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,944,315 (GRCm39) |
S193P |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,410,156 (GRCm39) |
H628Y |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,941,079 (GRCm39) |
L77P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,940 (GRCm39) |
A211T |
possibly damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,137,892 (GRCm39) |
T743A |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,821,664 (GRCm39) |
T1346M |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,384 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
C |
10: 75,695,638 (GRCm39) |
D55G |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,361 (GRCm39) |
C608* |
probably null |
Het |
| Mlip |
A |
T |
9: 77,146,859 (GRCm39) |
C85S |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,826,809 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mybl2 |
T |
A |
2: 162,903,528 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
C |
T |
11: 67,196,843 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
A |
G |
19: 60,745,368 (GRCm39) |
Y222C |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,044,037 (GRCm39) |
Y267F |
probably benign |
Het |
| Or2n1e |
G |
T |
17: 38,585,774 (GRCm39) |
M37I |
probably benign |
Het |
| Or5d16 |
T |
C |
2: 87,773,909 (GRCm39) |
D21G |
possibly damaging |
Het |
| Papolb |
A |
G |
5: 142,515,211 (GRCm39) |
V144A |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,003,298 (GRCm39) |
L509Q |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,802,122 (GRCm39) |
M290I |
probably benign |
Het |
| Ralb |
G |
C |
1: 119,405,856 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
T |
C |
10: 121,931,841 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,672,519 (GRCm39) |
D18E |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,400,568 (GRCm39) |
H2576P |
possibly damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,349 (GRCm39) |
D241G |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,175,040 (GRCm39) |
V165E |
probably benign |
Het |
| Thbs1 |
T |
A |
2: 117,943,472 (GRCm39) |
V30E |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,077,265 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,756,008 (GRCm39) |
D84N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,737,427 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,171 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,242 (GRCm39) |
Y181H |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,712 (GRCm39) |
Y110F |
probably damaging |
Het |
| Zbtb40 |
A |
C |
4: 136,745,842 (GRCm39) |
S64A |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,131,252 (GRCm39) |
|
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 |
|
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 |
|
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'- GGTTCCTAGCCAAGAAAGCCACAG -3'
(R):5'- TGAAGGCCAATAACCGCATTCTCAG -3'
Sequencing Primer
(F):5'- AGGCAATGACTGAGCCTTTG -3'
(R):5'- ATAACCGCATTCTCAGCTATATCCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation