Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Or2h1b'

296768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2h1b

Ensembl Gene

ENSMUSG00000091601

Gene Name

olfactory receptor family 2 subfamily H member 1B

Synonyms

MOR256-39P, GA_x6K02T2PSCP-1592036-1591098, Olfr93

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

37461923-37462861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37462163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 79 (R79S)

Ref Sequence

ENSEMBL: ENSMUSP00000146548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171679] [ENSMUST00000208003] [ENSMUST00000219235]

AlphaFold

Q6UAH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171679
AA Change: R233S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: R233S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.7e-50	PFAM
Pfam:7tm_1	39	288	3.3e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208003
AA Change: R79S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219235
AA Change: R233S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Or2h1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Or2h1b	APN	17	37,462,332 (GRCm39)	missense	probably damaging	1.00
IGL02369:Or2h1b	APN	17	37,462,665 (GRCm39)	missense	probably damaging	1.00
IGL02392:Or2h1b	APN	17	37,461,979 (GRCm39)	missense	probably benign	0.03
IGL03089:Or2h1b	APN	17	37,462,534 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Or2h1b	UTSW	17	37,462,270 (GRCm39)	missense	probably benign
R0396:Or2h1b	UTSW	17	37,462,446 (GRCm39)	missense	probably damaging	1.00
R2276:Or2h1b	UTSW	17	37,462,145 (GRCm39)	nonsense	probably null
R2278:Or2h1b	UTSW	17	37,462,145 (GRCm39)	nonsense	probably null
R3419:Or2h1b	UTSW	17	37,462,242 (GRCm39)	missense	probably damaging	0.99
R4254:Or2h1b	UTSW	17	37,462,530 (GRCm39)	missense	possibly damaging	0.90
R4353:Or2h1b	UTSW	17	37,462,228 (GRCm39)	missense	probably damaging	1.00
R4530:Or2h1b	UTSW	17	37,462,498 (GRCm39)	missense	possibly damaging	0.84
R4666:Or2h1b	UTSW	17	37,462,270 (GRCm39)	missense	possibly damaging	0.61
R5583:Or2h1b	UTSW	17	37,462,485 (GRCm39)	missense	probably benign	0.00
R5834:Or2h1b	UTSW	17	37,462,690 (GRCm39)	missense	probably damaging	1.00
R6348:Or2h1b	UTSW	17	37,462,497 (GRCm39)	missense	probably damaging	0.96
R6461:Or2h1b	UTSW	17	37,462,362 (GRCm39)	missense	probably damaging	1.00
R6788:Or2h1b	UTSW	17	37,462,713 (GRCm39)	missense	probably damaging	0.98
R7969:Or2h1b	UTSW	17	37,462,077 (GRCm39)	missense	possibly damaging	0.95
R8374:Or2h1b	UTSW	17	37,462,636 (GRCm39)	missense	probably damaging	0.97
R9126:Or2h1b	UTSW	17	37,462,123 (GRCm39)	missense	possibly damaging	0.90
R9298:Or2h1b	UTSW	17	37,462,572 (GRCm39)	missense	probably damaging	1.00
Z1177:Or2h1b	UTSW	17	37,462,716 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16