Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Or8b38'

358540

Institutional Source

Beutler Lab

Gene Symbol

Or8b38

Ensembl Gene

ENSMUSG00000096424

Gene Name

olfactory receptor family 8 subfamily B member 38

Synonyms

MOR162-12, GA_x6K02T2PVTD-31740639-31741568, Olfr885

MMRRC Submission

041602-MU

Accession Numbers

Essential gene?

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

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37972618-37973547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37973389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 258 (Y258H)

Ref Sequence

ENSEMBL: ENSMUSP00000080646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081985]

AlphaFold

Q7TRE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000081985
AA Change: Y258H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080646
Gene: ENSMUSG00000096424
AA Change: Y258H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	3.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	224	1.1e-5	PFAM
Pfam:7tm_1	41	288	7.5e-24	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
Ash2l	A	T	8: 26,308,623 (GRCm39)	I552N	probably damaging	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Cyp2d9	T	C	15: 82,338,602 (GRCm39)	L1P	probably null	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ghitm	A	G	14: 36,855,700 (GRCm39)	C8R	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Kcnj10	A	G	1: 172,197,266 (GRCm39)	D260G	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Wdr33	T	A	18: 32,021,500 (GRCm39)	H683Q	unknown	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	Het

Other mutations in Or8b38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Or8b38	APN	9	37,973,300 (GRCm39)	missense	possibly damaging	0.58
IGL02441:Or8b38	APN	9	37,973,233 (GRCm39)	missense	probably benign	0.02
IGL03263:Or8b38	APN	9	37,973,009 (GRCm39)	missense	probably damaging	0.98
R1748:Or8b38	UTSW	9	37,972,796 (GRCm39)	missense	probably damaging	1.00
R1870:Or8b38	UTSW	9	37,972,646 (GRCm39)	missense	probably benign	0.24
R1920:Or8b38	UTSW	9	37,972,981 (GRCm39)	missense	probably damaging	1.00
R1921:Or8b38	UTSW	9	37,972,981 (GRCm39)	missense	probably damaging	1.00
R1922:Or8b38	UTSW	9	37,972,981 (GRCm39)	missense	probably damaging	1.00
R4073:Or8b38	UTSW	9	37,973,165 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b38	UTSW	9	37,973,068 (GRCm39)	missense	probably damaging	1.00
R4950:Or8b38	UTSW	9	37,973,297 (GRCm39)	missense	probably damaging	1.00
R5116:Or8b38	UTSW	9	37,972,634 (GRCm39)	missense	probably benign
R5233:Or8b38	UTSW	9	37,973,446 (GRCm39)	missense	probably damaging	0.96
R5923:Or8b38	UTSW	9	37,973,154 (GRCm39)	missense	probably benign	0.08
R6668:Or8b38	UTSW	9	37,973,066 (GRCm39)	missense	possibly damaging	0.83
R8035:Or8b38	UTSW	9	37,972,961 (GRCm39)	missense	probably damaging	0.99
R9392:Or8b38	UTSW	9	37,973,195 (GRCm39)	missense	probably benign	0.01
R9481:Or8b38	UTSW	9	37,972,707 (GRCm39)	missense	probably benign	0.01
RF020:Or8b38	UTSW	9	37,972,620 (GRCm39)	start codon destroyed	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- CCTCCATCAATGAGCTGGTAC -3'
(R):5'- TAATTCTAGATTCCCACCTCAAGG -3'

Sequencing Primer
(F):5'- CCATCAATGAGCTGGTACTTTTC -3'
(R):5'- CTGTAGAGCAAATCTAGGGCCTC -3'

Posted On

2015-11-11