Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Or4k44'

50399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4k44

Ensembl Gene

ENSMUSG00000109547

Gene Name

olfactory receptor family 4 subfamily K member 44

Synonyms

MOR248-7, GA_x6K02T2Q125-72589785-72588847, Olfr1294

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

111367694-111368632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111368359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 92 (I92F)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208334] [ENSMUST00000208675] [ENSMUST00000215245]

AlphaFold

Q8VGE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099614
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: I92F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.7e-51	PFAM
Pfam:7tm_1	41	287	2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208334
AA Change: I92F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208675
AA Change: I92F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 100,148,586 (GRCm39)		noncoding transcript	Het
Acp4	C	T	7: 43,902,876 (GRCm39)	V331I	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Alg6	T	C	4: 99,629,807 (GRCm39)	V128A	probably benign	Het
Ank3	A	G	10: 69,686,026 (GRCm39)	K280E	probably damaging	Het
Bfar	T	C	16: 13,503,105 (GRCm39)	C36R	probably damaging	Het
Car14	A	G	3: 95,806,128 (GRCm39)	I311T	probably damaging	Het
Cd300c	T	C	11: 114,851,253 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,096 (GRCm39)	E513V	probably damaging	Het
Clip1	C	A	5: 123,768,867 (GRCm39)	K612N	probably damaging	Het
Depdc5	A	G	5: 33,056,411 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,959,572 (GRCm39)		probably null	Het
Dph6	A	T	2: 114,478,290 (GRCm39)	M17K	probably damaging	Het
Enkur	T	C	2: 21,194,042 (GRCm39)	Q177R	probably benign	Het
Faap100	T	C	11: 120,262,958 (GRCm39)	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,776,930 (GRCm39)		probably benign	Het
Fcgr2b	A	T	1: 170,795,622 (GRCm39)	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,842 (GRCm39)	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,330,885 (GRCm39)	D425V	unknown	Het
Fnta	G	A	8: 26,497,229 (GRCm39)	Q207*	probably null	Het
Fpr3	T	A	17: 18,190,828 (GRCm39)	V33D	probably benign	Het
Fshr	C	T	17: 89,292,821 (GRCm39)	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,272,358 (GRCm39)		probably null	Het
Gjb2	A	G	14: 57,337,629 (GRCm39)	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,174,333 (GRCm39)	T292A	probably benign	Het
Lama5	A	G	2: 179,818,336 (GRCm39)		probably benign	Het
Marveld3	G	T	8: 110,688,596 (GRCm39)	D48E	possibly damaging	Het
Meox1	A	T	11: 101,784,599 (GRCm39)	I78N	probably benign	Het
Ncor1	A	T	11: 62,283,354 (GRCm39)	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,340,466 (GRCm39)	Q784R	probably damaging	Het
Or10ag2	A	G	2: 87,248,714 (GRCm39)	I107M	probably benign	Het
Pld5	A	T	1: 176,102,445 (GRCm39)		probably benign	Het
Plk1	G	A	7: 121,768,148 (GRCm39)	R456H	probably damaging	Het
Polr2a	T	A	11: 69,638,840 (GRCm39)	I65F	possibly damaging	Het
Ptprd	T	A	4: 75,977,922 (GRCm39)	I196F	probably damaging	Het
Qsox2	T	C	2: 26,118,408 (GRCm39)	N121S	probably damaging	Het
Reln	A	G	5: 22,184,664 (GRCm39)	L1617S	probably damaging	Het
Rragc	T	C	4: 123,823,761 (GRCm39)	F345L	probably benign	Het
Sass6	A	T	3: 116,407,605 (GRCm39)	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,311,770 (GRCm39)	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,520,804 (GRCm39)	C224*	probably null	Het
Slc27a5	T	C	7: 12,722,999 (GRCm39)	E567G	probably damaging	Het
Synj2	T	A	17: 6,088,201 (GRCm39)	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,960,791 (GRCm39)	T214A	probably damaging	Het
Tjp3	C	A	10: 81,109,699 (GRCm39)	V835L	probably benign	Het
Trpc4	C	A	3: 54,129,983 (GRCm39)	Q250K	probably benign	Het
Ttn	A	T	2: 76,575,506 (GRCm39)	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,856,163 (GRCm39)	Y523F	probably damaging	Het
Zfp971	G	A	2: 177,665,175 (GRCm39)		probably null	Het

Other mutations in Or4k44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02304:Or4k44	APN	2	111,367,746 (GRCm39)	missense	probably benign	0.06
IGL02555:Or4k44	APN	2	111,368,262 (GRCm39)	missense	probably damaging	0.98
R0422:Or4k44	UTSW	2	111,368,328 (GRCm39)	missense	probably damaging	0.97
R0647:Or4k44	UTSW	2	111,367,704 (GRCm39)	missense	probably benign	0.00
R0656:Or4k44	UTSW	2	111,367,972 (GRCm39)	missense	probably damaging	1.00
R1543:Or4k44	UTSW	2	111,368,142 (GRCm39)	missense	probably benign	0.00
R1909:Or4k44	UTSW	2	111,368,359 (GRCm39)	missense	probably damaging	1.00
R3735:Or4k44	UTSW	2	111,368,241 (GRCm39)	missense	probably damaging	1.00
R4671:Or4k44	UTSW	2	111,368,280 (GRCm39)	missense	probably damaging	1.00
R4703:Or4k44	UTSW	2	111,368,113 (GRCm39)	missense	probably benign	0.03
R4809:Or4k44	UTSW	2	111,367,956 (GRCm39)	missense	probably benign	0.15
R4822:Or4k44	UTSW	2	111,367,797 (GRCm39)	missense	probably damaging	0.98
R4837:Or4k44	UTSW	2	111,368,319 (GRCm39)	missense	probably damaging	0.98
R4880:Or4k44	UTSW	2	111,367,698 (GRCm39)	nonsense	probably null
R5203:Or4k44	UTSW	2	111,367,981 (GRCm39)	missense	probably damaging	1.00
R5871:Or4k44	UTSW	2	111,367,984 (GRCm39)	missense	probably damaging	1.00
R5902:Or4k44	UTSW	2	111,367,739 (GRCm39)	missense	probably benign	0.00
R6501:Or4k44	UTSW	2	111,368,124 (GRCm39)	missense	probably damaging	1.00
R7354:Or4k44	UTSW	2	111,367,909 (GRCm39)	missense	possibly damaging	0.94
R7575:Or4k44	UTSW	2	111,368,597 (GRCm39)	missense	probably damaging	1.00
R7623:Or4k44	UTSW	2	111,368,281 (GRCm39)	missense	probably damaging	1.00
R7632:Or4k44	UTSW	2	111,368,521 (GRCm39)	missense	possibly damaging	0.87
R7845:Or4k44	UTSW	2	111,368,512 (GRCm39)	nonsense	probably null
R8130:Or4k44	UTSW	2	111,367,825 (GRCm39)	missense	probably damaging	1.00
R9056:Or4k44	UTSW	2	111,368,488 (GRCm39)	missense	probably benign	0.04
R9321:Or4k44	UTSW	2	111,368,434 (GRCm39)	missense	probably damaging	1.00
Z1088:Or4k44	UTSW	2	111,368,159 (GRCm39)	missense	possibly damaging	0.89
Z1176:Or4k44	UTSW	2	111,368,630 (GRCm39)	start codon destroyed	probably null	1.00

Posted On

2013-06-21