Incidental Mutation 'R6484:Or5b105'
| ID |
517285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b105
|
| Ensembl Gene |
ENSMUSG00000062844 |
| Gene Name |
olfactory receptor family 5 subfamily B member 105 |
| Synonyms |
GA_x6K02T2RE5P-3430689-3429787, Olfr1458, MOR202-24, EG667271 |
| MMRRC Submission |
044616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13079743-13080669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13080431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076729]
[ENSMUST00000215160]
|
| AlphaFold |
A0A1L1SSD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076729
AA Change: V73A
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076019
Gene: ENSMUSG00000062844
AA Change: V73A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
23 |
300 |
7.9e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
27 |
297 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
33 |
282 |
5.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215160
AA Change: V79A
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
| Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
| Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
| Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
| Dthd1 |
A |
G |
5: 62,971,675 (GRCm39) |
N166S |
probably benign |
Het |
| Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
| Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
| Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
| Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Mctp1 |
A |
G |
13: 76,836,744 (GRCm39) |
I104V |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
| Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
| Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
| Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
| Poln |
C |
T |
5: 34,286,857 (GRCm39) |
A104T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
| Rcbtb2 |
A |
T |
14: 73,414,490 (GRCm39) |
S434C |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
| Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
| Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
| Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
| Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
| Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
probably damaging |
Het |
|
| Other mutations in Or5b105 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01684:Or5b105
|
APN |
19 |
13,080,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02319:Or5b105
|
APN |
19 |
13,080,026 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02926:Or5b105
|
APN |
19 |
13,080,187 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03107:Or5b105
|
APN |
19 |
13,080,401 (GRCm39) |
missense |
probably benign |
|
|
IGL03304:Or5b105
|
APN |
19 |
13,080,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0049:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0099:Or5b105
|
UTSW |
19 |
13,080,504 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0103:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0144:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0189:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0206:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0207:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0208:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0212:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0344:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0426:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0506:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0507:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0607:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0661:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0734:Or5b105
|
UTSW |
19 |
13,080,642 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1347:Or5b105
|
UTSW |
19 |
13,080,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1347:Or5b105
|
UTSW |
19 |
13,080,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1443:Or5b105
|
UTSW |
19 |
13,080,568 (GRCm39) |
nonsense |
probably null |
|
|
R1446:Or5b105
|
UTSW |
19 |
13,080,380 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1567:Or5b105
|
UTSW |
19 |
13,080,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2190:Or5b105
|
UTSW |
19 |
13,079,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Or5b105
|
UTSW |
19 |
13,079,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4020:Or5b105
|
UTSW |
19 |
13,079,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4406:Or5b105
|
UTSW |
19 |
13,079,958 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4631:Or5b105
|
UTSW |
19 |
13,080,636 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4847:Or5b105
|
UTSW |
19 |
13,079,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Or5b105
|
UTSW |
19 |
13,080,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6086:Or5b105
|
UTSW |
19 |
13,079,745 (GRCm39) |
makesense |
probably null |
|
|
R6480:Or5b105
|
UTSW |
19 |
13,079,838 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6786:Or5b105
|
UTSW |
19 |
13,080,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7121:Or5b105
|
UTSW |
19 |
13,080,537 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7547:Or5b105
|
UTSW |
19 |
13,080,407 (GRCm39) |
missense |
not run |
|
|
R7822:Or5b105
|
UTSW |
19 |
13,080,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Or5b105
|
UTSW |
19 |
13,080,610 (GRCm39) |
splice site |
probably null |
|
|
R8219:Or5b105
|
UTSW |
19 |
13,080,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Or5b105
|
UTSW |
19 |
13,080,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8458:Or5b105
|
UTSW |
19 |
13,079,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Or5b105
|
UTSW |
19 |
13,079,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9330:Or5b105
|
UTSW |
19 |
13,080,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9592:Or5b105
|
UTSW |
19 |
13,079,906 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9677:Or5b105
|
UTSW |
19 |
13,080,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9725:Or5b105
|
UTSW |
19 |
13,080,272 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0024:Or5b105
|
UTSW |
19 |
13,080,573 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0027:Or5b105
|
UTSW |
19 |
13,080,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAATGACTAGACATGCGCAC -3'
(R):5'- ATGGGACTCACCGATGATCC -3'
Sequencing Primer
(F):5'- GCACACACGTGTTGTCATG -3'
(R):5'- GATGATCCAGACCTGCAGCTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation