Incidental Mutation 'R5701:Vmn2r55'
| ID |
450889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r55
|
| Ensembl Gene |
ENSMUSG00000091045 |
| Gene Name |
vomeronasal 2, receptor 55 |
| Synonyms |
|
| MMRRC Submission |
043181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12385633-12422855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12404492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 304
(F304L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167771]
[ENSMUST00000172743]
|
| AlphaFold |
A0A3B2W3J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167771
AA Change: F304L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132834
Gene: ENSMUSG00000091045
AA Change: F304L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
398 |
6.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172743
AA Change: F304L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133483
Gene: ENSMUSG00000091045
AA Change: F304L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.4e-57 |
PFAM |
|
Pfam:7tm_3
|
525 |
762 |
3.7e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
| AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
| Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
| Cand2 |
T |
G |
6: 115,774,893 (GRCm39) |
F1034V |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,125,380 (GRCm39) |
V340I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
| Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
| Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
| Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
| Kri1 |
T |
A |
9: 21,192,425 (GRCm39) |
K241M |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
| Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
| Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
| Synpo2 |
C |
G |
3: 122,873,879 (GRCm39) |
G1029A |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
| Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
probably benign |
Het |
|
| Other mutations in Vmn2r55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02684:Vmn2r55
|
APN |
7 |
12,404,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03035:Vmn2r55
|
APN |
7 |
12,404,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03115:Vmn2r55
|
APN |
7 |
12,404,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Vmn2r55
|
APN |
7 |
12,405,120 (GRCm39) |
splice site |
probably benign |
|
|
R0140:Vmn2r55
|
UTSW |
7 |
12,402,104 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0511:Vmn2r55
|
UTSW |
7 |
12,404,945 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1281:Vmn2r55
|
UTSW |
7 |
12,404,825 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1564:Vmn2r55
|
UTSW |
7 |
12,418,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Vmn2r55
|
UTSW |
7 |
12,386,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Vmn2r55
|
UTSW |
7 |
12,402,111 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2939:Vmn2r55
|
UTSW |
7 |
12,385,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2993:Vmn2r55
|
UTSW |
7 |
12,418,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Vmn2r55
|
UTSW |
7 |
12,404,634 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4272:Vmn2r55
|
UTSW |
7 |
12,402,106 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4589:Vmn2r55
|
UTSW |
7 |
12,404,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4624:Vmn2r55
|
UTSW |
7 |
12,404,627 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4965:Vmn2r55
|
UTSW |
7 |
12,404,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5294:Vmn2r55
|
UTSW |
7 |
12,385,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Vmn2r55
|
UTSW |
7 |
12,404,830 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5395:Vmn2r55
|
UTSW |
7 |
12,385,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Vmn2r55
|
UTSW |
7 |
12,385,871 (GRCm39) |
missense |
probably benign |
|
|
R5771:Vmn2r55
|
UTSW |
7 |
12,404,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Vmn2r55
|
UTSW |
7 |
12,404,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6148:Vmn2r55
|
UTSW |
7 |
12,402,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6159:Vmn2r55
|
UTSW |
7 |
12,385,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6541:Vmn2r55
|
UTSW |
7 |
12,404,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Vmn2r55
|
UTSW |
7 |
12,386,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7483:Vmn2r55
|
UTSW |
7 |
12,404,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8269:Vmn2r55
|
UTSW |
7 |
12,404,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8749:Vmn2r55
|
UTSW |
7 |
12,385,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Vmn2r55
|
UTSW |
7 |
12,405,024 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9049:Vmn2r55
|
UTSW |
7 |
12,418,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Vmn2r55
|
UTSW |
7 |
12,385,793 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9344:Vmn2r55
|
UTSW |
7 |
12,385,782 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Vmn2r55
|
UTSW |
7 |
12,404,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Vmn2r55
|
UTSW |
7 |
12,402,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r55
|
UTSW |
7 |
12,405,106 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Vmn2r55
|
UTSW |
7 |
12,385,764 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCCATTCCACACATGTC -3'
(R):5'- CATACCAGGCATTTCCCAGG -3'
Sequencing Primer
(F):5'- TCTCTTACCTGCCAGGAATGGAAG -3'
(R):5'- CATTTCCCAGGTGTTGCAAGGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation