Incidental Mutation 'R2035:Vmn2r53'
| ID |
224470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
040042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2035 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12332438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 404
(F404L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118665
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170412
AA Change: F404L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: F404L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,760,761 (GRCm39) |
*1273Q |
probably null |
Het |
| Aars2 |
A |
G |
17: 45,825,727 (GRCm39) |
I348V |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,847,932 (GRCm39) |
R788C |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,406,536 (GRCm39) |
L171P |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,480,581 (GRCm39) |
H686L |
probably benign |
Het |
| Acsl1 |
A |
G |
8: 46,981,621 (GRCm39) |
Y456C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,624 (GRCm39) |
V2561D |
probably benign |
Het |
| B3galnt2 |
T |
A |
13: 14,140,909 (GRCm39) |
F44I |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,730,338 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Ccdc163 |
T |
C |
4: 116,568,530 (GRCm39) |
S195P |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,297,588 (GRCm39) |
K911N |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,671,489 (GRCm39) |
D120E |
possibly damaging |
Het |
| Dnali1 |
C |
T |
4: 124,952,903 (GRCm39) |
V207M |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,128 (GRCm39) |
Q3036R |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,310,494 (GRCm39) |
R4098H |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,760,525 (GRCm39) |
N1741K |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,273,639 (GRCm39) |
S374C |
probably damaging |
Het |
| Ess2 |
A |
G |
16: 17,727,950 (GRCm39) |
|
probably null |
Het |
| F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
| Gm4841 |
T |
G |
18: 60,402,929 (GRCm39) |
Y388S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,771,336 (GRCm39) |
T479A |
probably damaging |
Het |
| Gucy2e |
C |
A |
11: 69,118,358 (GRCm39) |
V743L |
probably benign |
Het |
| Il33 |
T |
A |
19: 29,932,037 (GRCm39) |
N143K |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,599,075 (GRCm39) |
S349R |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,383,033 (GRCm39) |
D134E |
probably damaging |
Het |
| Kcnk1 |
A |
C |
8: 126,752,108 (GRCm39) |
N238T |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,386,721 (GRCm39) |
V535L |
probably benign |
Het |
| Muc19 |
T |
A |
15: 91,776,599 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
A |
T |
14: 103,497,675 (GRCm39) |
Y966N |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,434 (GRCm39) |
M349L |
probably benign |
Het |
| Narf |
G |
A |
11: 121,129,326 (GRCm39) |
A37T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,161,491 (GRCm39) |
N208D |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,071,488 (GRCm39) |
|
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,052 (GRCm39) |
I70T |
probably damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,463 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or7a38 |
T |
C |
10: 78,753,421 (GRCm39) |
V249A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,526,348 (GRCm39) |
P410T |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,253,080 (GRCm39) |
N1337S |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,282,802 (GRCm39) |
|
probably null |
Het |
| Pum2 |
T |
A |
12: 8,778,638 (GRCm39) |
Y429* |
probably null |
Het |
| Resf1 |
G |
A |
6: 149,230,724 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Rttn |
T |
A |
18: 89,038,340 (GRCm39) |
V812E |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,842,526 (GRCm39) |
L483H |
probably damaging |
Het |
| Slc35a3 |
T |
A |
3: 116,480,972 (GRCm39) |
Q97L |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,872,552 (GRCm39) |
M96L |
probably benign |
Het |
| Strc |
G |
A |
2: 121,205,415 (GRCm39) |
A905V |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,924,386 (GRCm39) |
M338V |
probably benign |
Het |
| Syngr2 |
A |
G |
11: 117,704,186 (GRCm39) |
D187G |
probably benign |
Het |
| Tas2r109 |
A |
C |
6: 132,957,423 (GRCm39) |
I169R |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,275,266 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
T |
A |
2: 117,948,821 (GRCm39) |
|
probably null |
Het |
| Them6 |
C |
A |
15: 74,593,524 (GRCm39) |
D127E |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,869,522 (GRCm39) |
D604G |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
| Topors |
T |
C |
4: 40,262,879 (GRCm39) |
N135S |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,645,752 (GRCm39) |
D1476V |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,573 (GRCm39) |
V264A |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,732 (GRCm39) |
T87S |
probably benign |
Het |
| Vmn1r202 |
C |
A |
13: 22,685,772 (GRCm39) |
R215L |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,019 (GRCm39) |
N782I |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,823,383 (GRCm39) |
C1036S |
possibly damaging |
Het |
| Yae1d1 |
T |
C |
13: 18,164,306 (GRCm39) |
N104D |
probably benign |
Het |
| Zan |
C |
A |
5: 137,442,209 (GRCm39) |
R1901L |
unknown |
Het |
| Zbtb9 |
G |
A |
17: 27,193,897 (GRCm39) |
R434H |
probably damaging |
Het |
| Zdhhc23 |
A |
C |
16: 43,793,871 (GRCm39) |
C268G |
probably damaging |
Het |
|
| Other mutations in Vmn2r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r53
|
APN |
7 |
12,334,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01997:Vmn2r53
|
APN |
7 |
12,316,373 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02442:Vmn2r53
|
APN |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02449:Vmn2r53
|
APN |
7 |
12,316,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Vmn2r53
|
APN |
7 |
12,315,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02986:Vmn2r53
|
APN |
7 |
12,315,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03064:Vmn2r53
|
APN |
7 |
12,334,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03093:Vmn2r53
|
APN |
7 |
12,334,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03244:Vmn2r53
|
APN |
7 |
12,340,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Vmn2r53
|
APN |
7 |
12,340,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Vmn2r53
|
APN |
7 |
12,315,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Vmn2r53
|
APN |
7 |
12,332,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0109:Vmn2r53
|
UTSW |
7 |
12,315,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Vmn2r53
|
UTSW |
7 |
12,316,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Vmn2r53
|
UTSW |
7 |
12,315,707 (GRCm39) |
missense |
probably benign |
|
|
R0881:Vmn2r53
|
UTSW |
7 |
12,334,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Vmn2r53
|
UTSW |
7 |
12,335,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Vmn2r53
|
UTSW |
7 |
12,315,429 (GRCm39) |
missense |
probably benign |
|
|
R1102:Vmn2r53
|
UTSW |
7 |
12,332,410 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1141:Vmn2r53
|
UTSW |
7 |
12,334,673 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1263:Vmn2r53
|
UTSW |
7 |
12,315,533 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1343:Vmn2r53
|
UTSW |
7 |
12,318,701 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1750:Vmn2r53
|
UTSW |
7 |
12,315,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Vmn2r53
|
UTSW |
7 |
12,334,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Vmn2r53
|
UTSW |
7 |
12,335,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Vmn2r53
|
UTSW |
7 |
12,315,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4372:Vmn2r53
|
UTSW |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4615:Vmn2r53
|
UTSW |
7 |
12,316,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Vmn2r53
|
UTSW |
7 |
12,315,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4663:Vmn2r53
|
UTSW |
7 |
12,334,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4708:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4710:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4774:Vmn2r53
|
UTSW |
7 |
12,334,692 (GRCm39) |
nonsense |
probably null |
|
|
R4859:Vmn2r53
|
UTSW |
7 |
12,335,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Vmn2r53
|
UTSW |
7 |
12,315,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Vmn2r53
|
UTSW |
7 |
12,335,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Vmn2r53
|
UTSW |
7 |
12,334,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r53
|
UTSW |
7 |
12,316,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6083:Vmn2r53
|
UTSW |
7 |
12,315,808 (GRCm39) |
missense |
probably benign |
|
|
R6312:Vmn2r53
|
UTSW |
7 |
12,332,566 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6700:Vmn2r53
|
UTSW |
7 |
12,315,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6783:Vmn2r53
|
UTSW |
7 |
12,335,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn2r53
|
UTSW |
7 |
12,340,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6889:Vmn2r53
|
UTSW |
7 |
12,335,069 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6940:Vmn2r53
|
UTSW |
7 |
12,316,343 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7100:Vmn2r53
|
UTSW |
7 |
12,315,513 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Vmn2r53
|
UTSW |
7 |
12,315,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7213:Vmn2r53
|
UTSW |
7 |
12,334,983 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7276:Vmn2r53
|
UTSW |
7 |
12,340,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7515:Vmn2r53
|
UTSW |
7 |
12,315,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7678:Vmn2r53
|
UTSW |
7 |
12,332,425 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7714:Vmn2r53
|
UTSW |
7 |
12,340,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r53
|
UTSW |
7 |
12,316,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Vmn2r53
|
UTSW |
7 |
12,335,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn2r53
|
UTSW |
7 |
12,315,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8478:Vmn2r53
|
UTSW |
7 |
12,340,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8853:Vmn2r53
|
UTSW |
7 |
12,315,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Vmn2r53
|
UTSW |
7 |
12,334,752 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8963:Vmn2r53
|
UTSW |
7 |
12,315,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Vmn2r53
|
UTSW |
7 |
12,315,435 (GRCm39) |
missense |
probably benign |
|
|
R9076:Vmn2r53
|
UTSW |
7 |
12,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Vmn2r53
|
UTSW |
7 |
12,335,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Vmn2r53
|
UTSW |
7 |
12,315,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r53
|
UTSW |
7 |
12,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATACACCGGCCTAGTCCAG -3'
(R):5'- TATTTGCTGTAGTCCTTGGACAGAC -3'
Sequencing Primer
(F):5'- CCAACACTGAATTCATGTACAGGTGG -3'
(R):5'- ACAGACCCTGTCCAGTGTTCAATATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation