Incidental Mutation 'R5554:Vmn2r13'
ID |
435280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r13
|
Ensembl Gene |
ENSMUSG00000091635 |
Gene Name |
vomeronasal 2, receptor 13 |
Synonyms |
Gm4867 |
MMRRC Submission |
043111-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5554 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
109303889-109339973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109339860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 38
(N38K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
AlphaFold |
L7N1X2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053253
AA Change: N38K
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052977 Gene: ENSMUSG00000091635 AA Change: N38K
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
Fndc3b |
G |
T |
3: 27,697,162 (GRCm39) |
P17T |
possibly damaging |
Het |
Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
Gm12258 |
T |
A |
11: 58,749,294 (GRCm39) |
S156R |
possibly damaging |
Het |
Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
Patj |
T |
A |
4: 98,342,633 (GRCm39) |
S576T |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
Rimbp2 |
T |
C |
5: 128,857,406 (GRCm39) |
D815G |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,208 (GRCm39) |
M325K |
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 |
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'- AACAGGACACAATGCTACAGTTTG -3'
(R):5'- GGATCTTCAGAGAGCAGTAGC -3'
Sequencing Primer
(F):5'- CAATGCTACAGTTTGTATACACAGC -3'
(R):5'- TCTTCAGAGAGCAGTAGCCATAAAAC -3'
|
Posted On |
2016-10-24 |