Incidental Mutation 'R8269:Vmn2r55'
ID |
639492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r55
|
Ensembl Gene |
ENSMUSG00000091045 |
Gene Name |
vomeronasal 2, receptor 55 |
Synonyms |
|
MMRRC Submission |
067693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R8269 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12385633-12422855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12404585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 273
(T273S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167771]
[ENSMUST00000172743]
|
AlphaFold |
A0A3B2W3J6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167771
AA Change: T273S
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132834 Gene: ENSMUSG00000091045 AA Change: T273S
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
5 |
398 |
6.1e-54 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172743
AA Change: T273S
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133483 Gene: ENSMUSG00000091045 AA Change: T273S
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
T |
C |
14: 8,246,325 (GRCm38) |
T489A |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,121,079 (GRCm39) |
C850S |
probably damaging |
Het |
Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
Akap11 |
G |
A |
14: 78,750,818 (GRCm39) |
T523I |
|
Het |
Amigo2 |
G |
T |
15: 97,144,112 (GRCm39) |
N103K |
possibly damaging |
Het |
Arfgap3 |
A |
C |
15: 83,194,542 (GRCm39) |
S377A |
probably benign |
Het |
Arhgap39 |
G |
T |
15: 76,635,942 (GRCm39) |
Q98K |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,059,892 (GRCm39) |
D779G |
probably damaging |
Het |
Bckdhb |
T |
C |
9: 84,004,417 (GRCm39) |
I388T |
probably benign |
Het |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Cd109 |
A |
G |
9: 78,572,964 (GRCm39) |
K496R |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,478,389 (GRCm39) |
F979L |
probably damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,334,803 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,800 (GRCm39) |
S402T |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,182,500 (GRCm39) |
Y211* |
probably null |
Het |
Dnah6 |
A |
G |
6: 73,145,810 (GRCm39) |
|
probably null |
Het |
Emc10 |
G |
T |
7: 44,141,408 (GRCm39) |
Q227K |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Exosc4 |
A |
T |
15: 76,211,732 (GRCm39) |
I14L |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,173,535 (GRCm39) |
T2393A |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,109,187 (GRCm39) |
H405L |
possibly damaging |
Het |
Gin1 |
T |
A |
1: 97,710,929 (GRCm39) |
M204K |
probably damaging |
Het |
Gm57858 |
A |
T |
3: 36,100,862 (GRCm39) |
N103K |
possibly damaging |
Het |
Gnal |
A |
G |
18: 67,268,693 (GRCm39) |
D193G |
possibly damaging |
Het |
Itpr3 |
G |
T |
17: 27,312,258 (GRCm39) |
R554L |
possibly damaging |
Het |
Lipc |
A |
G |
9: 70,727,655 (GRCm39) |
L149P |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,388,724 (GRCm39) |
Y2234H |
unknown |
Het |
Lsm14b |
T |
C |
2: 179,674,407 (GRCm39) |
S317P |
probably damaging |
Het |
Mapk4 |
G |
C |
18: 74,063,622 (GRCm39) |
F533L |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
Ncan |
T |
A |
8: 70,560,330 (GRCm39) |
Q879L |
probably benign |
Het |
Nox4 |
T |
G |
7: 86,955,930 (GRCm39) |
|
probably benign |
Het |
Or4p18 |
A |
T |
2: 88,232,381 (GRCm39) |
V299D |
probably damaging |
Het |
Or5p67 |
A |
T |
7: 107,922,776 (GRCm39) |
C36S |
probably benign |
Het |
Pcdhb10 |
A |
G |
18: 37,547,062 (GRCm39) |
K713E |
probably benign |
Het |
Phkb |
A |
G |
8: 86,756,211 (GRCm39) |
D835G |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,079,388 (GRCm39) |
N63D |
probably benign |
Het |
Pls1 |
G |
T |
9: 95,644,023 (GRCm39) |
T491K |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,145,095 (GRCm39) |
D35G |
unknown |
Het |
Slc28a2b |
C |
T |
2: 122,352,169 (GRCm39) |
H336Y |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,339,982 (GRCm39) |
K180R |
probably benign |
Het |
Suv39h1 |
G |
T |
X: 7,937,270 (GRCm39) |
Q129K |
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,465,169 (GRCm39) |
V73A |
probably benign |
Het |
Tmem161a |
T |
A |
8: 70,634,608 (GRCm39) |
V421E |
probably benign |
Het |
Topbp1 |
C |
A |
9: 103,205,792 (GRCm39) |
P810Q |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,425,325 (GRCm39) |
V1717M |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,423,188 (GRCm39) |
D1062G |
probably damaging |
Het |
Zcrb1 |
A |
G |
15: 93,295,056 (GRCm39) |
Y27H |
probably benign |
Het |
Zfp128 |
G |
A |
7: 12,624,663 (GRCm39) |
G344R |
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 |
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 |
|
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 |
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'- ATATTGTGCAGAGCATGGGC -3'
(R):5'- TCCAGCTCATCCTACATGGC -3'
Sequencing Primer
(F):5'- CATGGGCAATGCTGTAGACAG -3'
(R):5'- CATCCTACATGGCTTACTGGGTG -3'
|
Posted On |
2020-07-28 |