Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Or8b38'

381926

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

042547-MU

Accession Numbers

Essential gene?

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

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37972618-37973547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37973297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 227 (I227T)

Ref Sequence

ENSEMBL: ENSMUSP00000080646 (fasta)

Gene Model

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

AlphaFold

Q7TRE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000081985
AA Change: I227T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080646
Gene: ENSMUSG00000096424
AA Change: I227T

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

Meta Mutation Damage Score

0.6221

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,153,579 (GRCm39)	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,252,872 (GRCm39)	E625G	probably damaging	Het
Cage1	C	T	13: 38,207,302 (GRCm39)	S181N	possibly damaging	Het
Ccdc73	A	C	2: 104,822,711 (GRCm39)	I887L	probably benign	Het
Cfap65	T	A	1: 74,945,495 (GRCm39)	K1408*	probably null	Het
Cngb1	C	A	8: 95,975,135 (GRCm39)	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,943,104 (GRCm39)	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073 (GRCm39)	S99P	probably benign	Het
Disp3	A	T	4: 148,342,583 (GRCm39)	D622E	possibly damaging	Het
Dnajc22	G	A	15: 98,999,615 (GRCm39)	V267I	probably benign	Het
Dph5	G	A	3: 115,722,292 (GRCm39)	G257S	probably benign	Het
Elmo2	A	T	2: 165,156,733 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,839,534 (GRCm39)	R2237G	unknown	Het
Fez1	G	A	9: 36,779,178 (GRCm39)	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,777,276 (GRCm39)	H101L	probably damaging	Het
Fsip2	G	A	2: 82,807,758 (GRCm39)	C1359Y	probably benign	Het
Fxyd7	G	A	7: 30,746,815 (GRCm39)	T15I	probably benign	Het
Gpr155	A	T	2: 73,212,529 (GRCm39)	D31E	probably benign	Het
Iho1	A	C	9: 108,298,709 (GRCm39)	S36R	probably damaging	Het
Irx6	A	T	8: 93,405,428 (GRCm39)	Y432F	probably damaging	Het
Itih5	A	C	2: 10,239,892 (GRCm39)	I340L	probably damaging	Het
Lao1	T	C	4: 118,822,572 (GRCm39)	L164S	probably damaging	Het
Mcoln3	T	C	3: 145,845,274 (GRCm39)	I490T	probably damaging	Het
Mef2b	T	C	8: 70,619,846 (GRCm39)	Y311H	probably damaging	Het
Mras	A	T	9: 99,276,537 (GRCm39)	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,276,091 (GRCm39)	D475G	probably damaging	Het
Nrcam	T	C	12: 44,645,273 (GRCm39)	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Or7e165	G	A	9: 19,695,027 (GRCm39)	M199I	probably benign	Het
Parp9	A	T	16: 35,768,377 (GRCm39)	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,283 (GRCm39)	V421E	probably benign	Het
Pck1	T	A	2: 172,996,620 (GRCm39)	I178K	probably benign	Het
Pde6b	A	G	5: 108,578,569 (GRCm39)	K836E	probably benign	Het
Ptprd	T	A	4: 76,058,752 (GRCm39)		probably null	Het
Pwp2	A	G	10: 78,018,840 (GRCm39)	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085 (GRCm38)		probably benign	Het
Rpain	C	G	11: 70,861,747 (GRCm39)	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,707,758 (GRCm39)		probably null	Het
Rubcn	A	T	16: 32,663,563 (GRCm39)	S358T	probably damaging	Het
Ryr2	G	A	13: 11,756,897 (GRCm39)	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,872,730 (GRCm39)	I669V	probably benign	Het
Slx1b	T	C	7: 126,290,939 (GRCm39)		probably benign	Het
Spsb3	T	A	17: 25,106,485 (GRCm39)		probably benign	Het
Tbx15	A	G	3: 99,233,700 (GRCm39)	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,744,639 (GRCm39)	E481D	probably damaging	Het
Trim17	A	T	11: 58,861,254 (GRCm39)	D253V	probably damaging	Het
Trim69	A	G	2: 122,009,227 (GRCm39)	D429G	probably damaging	Het
Vstm5	A	G	9: 15,169,090 (GRCm39)		probably null	Het
Vwa3b	A	G	1: 37,124,413 (GRCm39)	Q337R	probably benign	Het
Zfp113	T	C	5: 138,143,734 (GRCm39)	N172S	probably benign	Het
Zfp607a	T	A	7: 27,578,176 (GRCm39)	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,666,018 (GRCm39)	T148I	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
R4727:Or8b38	UTSW	9	37,973,389 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b38	UTSW	9	37,973,068 (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'- GTTTGCATGCTGAGACTCACC -3'
(R):5'- TTTCAGTGCAATGTGGACATC -3'

Sequencing Primer
(F):5'- ATGCTGAGACTCACCTTCTGTG -3'
(R):5'- CAGTGCAATGTGGACATCTTTATTCC -3'

Posted On

2016-04-27