Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Or5b112'

158394

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

039367-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13319124-13321692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13319211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 30 (I30F)

Ref Sequence

ENSEMBL: ENSMUSP00000147188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]

AlphaFold

Q8VFW4

Predicted Effect

probably benign
Transcript: ENSMUST00000075868
AA Change: I30F

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: I30F

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

probably benign
Transcript: ENSMUST00000207124
AA Change: I30F

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,291,635 (GRCm39)	I24L	probably benign	Het
Ano1	A	G	7: 144,187,426 (GRCm39)	W447R	possibly damaging	Het
Blm	T	A	7: 80,105,165 (GRCm39)	K103*	probably null	Het
Camta2	A	G	11: 70,567,230 (GRCm39)	I675T	probably benign	Het
Catsperz	G	A	19: 6,902,450 (GRCm39)	R15C	probably damaging	Het
Chd1l	T	C	3: 97,510,964 (GRCm39)		probably benign	Het
Corin	C	A	5: 72,462,276 (GRCm39)	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 106,938,104 (GRCm39)	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,286,569 (GRCm39)	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,185,528 (GRCm39)		probably null	Het
Emilin2	T	C	17: 71,562,960 (GRCm39)		probably benign	Het
Epb41l2	T	A	10: 25,319,800 (GRCm39)	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,759,427 (GRCm39)	M166I	probably benign	Het
Golm1	T	C	13: 59,786,187 (GRCm39)	D335G	probably damaging	Het
Gpn1	T	A	5: 31,660,773 (GRCm39)	M188K	probably damaging	Het
Gpr84	T	A	15: 103,217,646 (GRCm39)	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,200 (GRCm39)	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,738,908 (GRCm39)		probably null	Het
Hmgcr	G	A	13: 96,795,528 (GRCm39)	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,788,774 (GRCm39)		probably benign	Het
Hsd3b9	G	A	3: 98,354,182 (GRCm39)	Q106*	probably null	Het
Klhl7	T	G	5: 24,364,489 (GRCm39)	W508G	probably damaging	Het
Lrp2	C	A	2: 69,258,948 (GRCm39)	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 157,840,968 (GRCm39)	N1357D	probably benign	Het
Macf1	T	C	4: 123,380,451 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,577,692 (GRCm39)	T329A	probably damaging	Het
Mroh9	C	T	1: 162,871,552 (GRCm39)		probably null	Het
Mta2	A	G	19: 8,926,550 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,271,906 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,384,352 (GRCm39)	D153G	probably benign	Het
Nup133	T	C	8: 124,644,156 (GRCm39)		probably benign	Het
Nup210	C	T	6: 91,019,329 (GRCm39)	V259M	possibly damaging	Het
Or10ak14	C	T	4: 118,610,816 (GRCm39)	M308I	probably benign	Het
Or9i14	A	T	19: 13,792,726 (GRCm39)	V76D	probably damaging	Het
Otog	C	T	7: 45,939,113 (GRCm39)	R2048C	probably damaging	Het
Pacc1	T	C	1: 191,080,632 (GRCm39)	V284A	probably damaging	Het
Paqr7	T	C	4: 134,235,124 (GRCm39)	L327P	probably damaging	Het
Parl	A	G	16: 20,105,676 (GRCm39)	S249P	probably damaging	Het
Phc1	A	G	6: 122,302,833 (GRCm39)	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,160,831 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,971,477 (GRCm39)	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,812,870 (GRCm39)	F194L	probably benign	Het
Rp1	A	T	1: 4,416,159 (GRCm39)	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,943 (GRCm39)	R47*	probably null	Het
Sis	T	C	3: 72,853,915 (GRCm39)	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,118,308 (GRCm39)	D209G	probably benign	Het
Slc26a4	A	T	12: 31,575,567 (GRCm39)	C706*	probably null	Het
Slc37a2	A	G	9: 37,148,177 (GRCm39)	V325A	probably benign	Het
Speg	T	A	1: 75,378,145 (GRCm39)	D784E	probably damaging	Het
Sycp1	T	C	3: 102,827,938 (GRCm39)	I270V	probably benign	Het
Tatdn2	T	A	6: 113,681,076 (GRCm39)	F309I	probably damaging	Het
Tmem67	T	C	4: 12,089,400 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,852,801 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,782,714 (GRCm39)	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,300,854 (GRCm39)	V2299A	probably benign	Het
Zfp819	T	A	7: 43,266,524 (GRCm39)	S260T	possibly damaging	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
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
R3693:Or5b112	UTSW	19	13,319,893 (GRCm39)	missense	possibly damaging	0.73
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'- CCCAGGAAAGTCACAGCAATGTGTAG -3'
(R):5'- CGATCACAGGCCATTGAAGTCAACAG -3'

Sequencing Primer
(F):5'- CACAGCAATGTGTAGGATATTGTAG -3'
(R):5'- CTGAGCTGCACACTCATTGTAAG -3'

Posted On

2014-02-18