Incidental Mutation 'R3693:Or5b112'
| ID |
268883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b112
|
| Ensembl Gene |
ENSMUSG00000096485 |
| Gene Name |
olfactory receptor family 5 subfamily B member 112 |
| Synonyms |
GA_x6K02T2RE5P-3672907-3673839, Olfr1466, MOR202-12 |
| MMRRC Submission |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R3693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13319124-13321692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13319893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 257
(I257T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075868]
[ENSMUST00000207124]
|
| AlphaFold |
Q8VFW4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075868
AA Change: I257T
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: I257T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
310 |
4.1e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
1.9e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
7e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207124
AA Change: I257T
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| 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, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
probably benign |
Het |
|
| Other mutations in Or5b112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02442:Or5b112
|
APN |
19 |
13,319,484 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02568:Or5b112
|
APN |
19 |
13,319,583 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03073:Or5b112
|
APN |
19 |
13,319,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0943:Or5b112
|
UTSW |
19 |
13,319,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1301:Or5b112
|
UTSW |
19 |
13,319,211 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1355:Or5b112
|
UTSW |
19 |
13,319,882 (GRCm39) |
nonsense |
probably null |
|
|
R1524:Or5b112
|
UTSW |
19 |
13,319,486 (GRCm39) |
nonsense |
probably null |
|
|
R1568:Or5b112
|
UTSW |
19 |
13,319,539 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1993:Or5b112
|
UTSW |
19 |
13,319,178 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2031:Or5b112
|
UTSW |
19 |
13,319,770 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3694:Or5b112
|
UTSW |
19 |
13,319,893 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3853:Or5b112
|
UTSW |
19 |
13,319,862 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5313:Or5b112
|
UTSW |
19 |
13,319,429 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5467:Or5b112
|
UTSW |
19 |
13,319,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Or5b112
|
UTSW |
19 |
13,319,497 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7125:Or5b112
|
UTSW |
19 |
13,319,103 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7591:Or5b112
|
UTSW |
19 |
13,319,619 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9072:Or5b112
|
UTSW |
19 |
13,319,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9073:Or5b112
|
UTSW |
19 |
13,319,238 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9523:Or5b112
|
UTSW |
19 |
13,319,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or5b112
|
UTSW |
19 |
13,319,619 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCAATCATGGCTCTC -3'
(R):5'- CAGGCCAAAATGATATTCATAGGC -3'
Sequencing Primer
(F):5'- GCTCTGATAGACATGTTAATGAACTG -3'
(R):5'- GCACTCAGATCATGAACTTATAAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation