Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Or8b44'

182364

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b44

Ensembl Gene

ENSMUSG00000094810

Gene Name

olfactory receptor family 8 subfamily B member 44

Synonyms

MOR165-5, GA_x6K02T2PVTD-32204729-32205661, Olfr907

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

38409967-38410899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38410003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 13 (I13F)

Ref Sequence

ENSEMBL: ENSMUSP00000148894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052901] [ENSMUST00000214003] [ENSMUST00000214264]

AlphaFold

Q7TRC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052901
AA Change: I13F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051531
Gene: ENSMUSG00000094810
AA Change: I13F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.4e-46	PFAM
Pfam:7tm_1	41	290	2.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214003
AA Change: I13F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214264
AA Change: I13F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Or8b44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Or8b44	APN	9	38,410,171 (GRCm39)	missense	probably benign	0.04
IGL02612:Or8b44	APN	9	38,410,769 (GRCm39)	missense	probably benign	0.01
R0366:Or8b44	UTSW	9	38,410,450 (GRCm39)	missense	possibly damaging	0.94
R0400:Or8b44	UTSW	9	38,410,207 (GRCm39)	missense	possibly damaging	0.63
R0726:Or8b44	UTSW	9	38,410,418 (GRCm39)	missense	possibly damaging	0.72
R1511:Or8b44	UTSW	9	38,410,114 (GRCm39)	missense	probably benign
R1663:Or8b44	UTSW	9	38,410,868 (GRCm39)	missense	unknown
R1763:Or8b44	UTSW	9	38,410,334 (GRCm39)	missense	probably damaging	1.00
R4810:Or8b44	UTSW	9	38,410,620 (GRCm39)	nonsense	probably null
R4851:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R4945:Or8b44	UTSW	9	38,410,585 (GRCm39)	missense	probably damaging	1.00
R5535:Or8b44	UTSW	9	38,410,294 (GRCm39)	missense	probably benign	0.10
R5576:Or8b44	UTSW	9	38,410,204 (GRCm39)	missense	probably damaging	1.00
R5618:Or8b44	UTSW	9	38,410,036 (GRCm39)	nonsense	probably null
R5829:Or8b44	UTSW	9	38,410,545 (GRCm39)	nonsense	probably null
R6249:Or8b44	UTSW	9	38,410,880 (GRCm39)	missense	unknown
R6353:Or8b44	UTSW	9	38,410,112 (GRCm39)	missense	probably benign	0.30
R6580:Or8b44	UTSW	9	38,410,319 (GRCm39)	missense	probably damaging	1.00
R6611:Or8b44	UTSW	9	38,410,534 (GRCm39)	missense	probably damaging	1.00
R6997:Or8b44	UTSW	9	38,410,607 (GRCm39)	missense	possibly damaging	0.94
R7407:Or8b44	UTSW	9	38,410,800 (GRCm39)	nonsense	probably null
R7420:Or8b44	UTSW	9	38,410,359 (GRCm39)	missense	probably benign	0.11
R7567:Or8b44	UTSW	9	38,410,369 (GRCm39)	missense	probably benign	0.00
R8382:Or8b44	UTSW	9	38,410,588 (GRCm39)	missense	probably damaging	0.98
X0028:Or8b44	UTSW	9	38,410,386 (GRCm39)	missense	possibly damaging	0.53

Posted On

2014-05-07