Incidental Mutation 'R4272:Vmn2r55'
ID |
322221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r55
|
Ensembl Gene |
ENSMUSG00000091045 |
Gene Name |
vomeronasal 2, receptor 55 |
Synonyms |
|
MMRRC Submission |
041644-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R4272 (G1)
|
Quality Score |
106 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12385633-12422855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12402106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 394
(F394S)
|
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: F394S
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000132834 Gene: ENSMUSG00000091045 AA Change: F394S
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
398 |
6.1e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172743
AA Change: F394S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133483 Gene: ENSMUSG00000091045 AA Change: F394S
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
397 |
3.4e-57 |
PFAM |
Pfam:7tm_3
|
525 |
762 |
3.7e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
probably damaging |
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 |
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 |
|
R5701:Vmn2r55
|
UTSW |
7 |
12,404,492 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TGAATGGCCTACATCCACTTCATG -3'
(R):5'- ATCCCTTCAGACACCATTTGG -3'
Sequencing Primer
(F):5'- GAGGAACCCTGGACTTGAAATTTCC -3'
(R):5'- TTTGGACAAGACACTGAACAGTC -3'
|
Posted On |
2015-06-20 |