Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02716:Or4k77'

304745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4k77

Ensembl Gene

ENSMUSG00000109322

Gene Name

olfactory receptor family 4 subfamily K member 77

Synonyms

MOR248-19, Olfr1283, GA_x6K02T2Q125-72420217-72421134

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

111198979-111199896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111199126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 50 (I50F)

Ref Sequence

ENSEMBL: ENSMUSP00000150510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000216637]

AlphaFold

Q7TQY4

Predicted Effect

probably benign
Transcript: ENSMUST00000090328
AA Change: I50F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: I50F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	3.6e-49	PFAM
Pfam:7tm_1	41	287	3.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204064
AA Change: I50F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: I50F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	298	2.1e-39	PFAM
Pfam:7tm_1	40	286	7.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216637
AA Change: I50F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,218,102 (GRCm39)	S212P	probably benign	Het
Ago2	C	T	15: 72,983,576 (GRCm39)	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,053,201 (GRCm39)	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857 (GRCm39)	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,407,425 (GRCm39)	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,792,868 (GRCm39)	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,265,390 (GRCm39)	N210S	possibly damaging	Het
Chadl	T	C	15: 81,580,116 (GRCm39)	N40D	probably damaging	Het
Crebbp	T	C	16: 3,932,742 (GRCm39)	E586G	probably benign	Het
Cts7	T	A	13: 61,504,422 (GRCm39)	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,795,980 (GRCm39)	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,536,246 (GRCm39)	M3679K	probably damaging	Het
Dym	T	C	18: 75,419,754 (GRCm39)	Y642H	probably damaging	Het
Efr3b	T	C	12: 4,034,627 (GRCm39)	D65G	probably damaging	Het
Elmo1	T	A	13: 20,633,672 (GRCm39)	F445I	probably damaging	Het
Epdr1	C	T	13: 19,778,740 (GRCm39)	V119M	probably benign	Het
Epha4	G	T	1: 77,357,602 (GRCm39)	R799S	probably damaging	Het
Esyt3	A	T	9: 99,199,277 (GRCm39)	V778E	probably damaging	Het
F10	A	T	8: 13,098,177 (GRCm39)	K127*	probably null	Het
Fcgbp	G	A	7: 27,800,859 (GRCm39)	E1302K	probably damaging	Het
Fer1l4	A	G	2: 155,871,635 (GRCm39)	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,645,642 (GRCm39)	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,257,550 (GRCm39)	T304S	probably benign	Het
Gab1	A	T	8: 81,496,323 (GRCm39)	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,184,576 (GRCm39)		noncoding transcript	Het
Gm572	A	G	4: 148,739,327 (GRCm39)	M52V	probably benign	Het
Hmgcr	T	C	13: 96,796,520 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,231,496 (GRCm39)	T9A	probably damaging	Het
Krt87	A	C	15: 101,332,485 (GRCm39)	F243V	possibly damaging	Het
Lyset	A	G	12: 102,711,088 (GRCm39)	T104A	probably benign	Het
Mast1	G	T	8: 85,662,352 (GRCm39)	P52Q	probably damaging	Het
Mcf2l	A	T	8: 13,047,277 (GRCm39)	Q211L	probably benign	Het
Mtrex	T	G	13: 113,019,680 (GRCm39)	D810A	probably benign	Het
Mtus2	C	A	5: 148,173,120 (GRCm39)	P968T	probably benign	Het
Mylk2	T	C	2: 152,764,073 (GRCm39)	*614R	probably null	Het
Myo15b	A	T	11: 115,774,535 (GRCm39)	E2049V	probably benign	Het
Myo6	A	T	9: 80,176,976 (GRCm39)	H581L	probably damaging	Het
Numb	A	T	12: 83,847,982 (GRCm39)	S241T	possibly damaging	Het
Or1j10	A	G	2: 36,267,355 (GRCm39)	D189G	possibly damaging	Het
Or4x11	G	T	2: 89,868,138 (GRCm39)	V292L	probably benign	Het
Phldb2	A	G	16: 45,621,953 (GRCm39)	S676P	probably damaging	Het
Rttn	G	A	18: 89,066,541 (GRCm39)	E1196K	possibly damaging	Het
Slc13a3	G	A	2: 165,248,635 (GRCm39)	P548S	unknown	Het
Slc2a7	A	G	4: 150,244,467 (GRCm39)		probably benign	Het
Slc37a1	T	C	17: 31,547,135 (GRCm39)	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,041,896 (GRCm39)	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,883,287 (GRCm39)		probably null	Het
Stambp	G	A	6: 83,533,372 (GRCm39)	T297I	probably damaging	Het
Sypl1	T	A	12: 33,017,668 (GRCm39)	Y129N	probably damaging	Het
Syt14	G	A	1: 192,662,843 (GRCm39)	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,688,227 (GRCm39)	D222G	probably damaging	Het
Tead2	C	A	7: 44,881,720 (GRCm39)	Y79*	probably null	Het
Uso1	T	C	5: 92,321,794 (GRCm39)	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124 (GRCm39)	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,213,678 (GRCm39)	V88D	probably benign	Het
Vps29	A	G	5: 122,500,129 (GRCm39)	T85A	probably benign	Het
Wdr90	T	A	17: 26,076,194 (GRCm39)	S500C	probably damaging	Het
Zfp958	G	A	8: 4,675,967 (GRCm39)		probably null	Het

Other mutations in Or4k77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Or4k77	APN	2	111,199,496 (GRCm39)	missense	probably benign	0.22
R0090:Or4k77	UTSW	2	111,199,639 (GRCm39)	missense	probably damaging	1.00
R0141:Or4k77	UTSW	2	111,199,835 (GRCm39)	missense	probably damaging	1.00
R0371:Or4k77	UTSW	2	111,199,498 (GRCm39)	missense	probably benign	0.00
R0417:Or4k77	UTSW	2	111,199,450 (GRCm39)	missense	possibly damaging	0.57
R1673:Or4k77	UTSW	2	111,199,552 (GRCm39)	missense	probably benign	0.11
R1970:Or4k77	UTSW	2	111,199,421 (GRCm39)	missense	probably benign	0.19
R2069:Or4k77	UTSW	2	111,199,440 (GRCm39)	missense	probably benign	0.43
R3897:Or4k77	UTSW	2	111,199,106 (GRCm39)	missense	possibly damaging	0.87
R4408:Or4k77	UTSW	2	111,199,625 (GRCm39)	missense	possibly damaging	0.63
R5397:Or4k77	UTSW	2	111,199,285 (GRCm39)	missense	probably benign	0.00
R5888:Or4k77	UTSW	2	111,199,088 (GRCm39)	missense	probably benign
R6281:Or4k77	UTSW	2	111,199,894 (GRCm39)	makesense	probably null
R6323:Or4k77	UTSW	2	111,199,046 (GRCm39)	missense	possibly damaging	0.94
R6801:Or4k77	UTSW	2	111,199,394 (GRCm39)	missense	probably benign	0.22
R7219:Or4k77	UTSW	2	111,199,882 (GRCm39)	missense	probably benign
R7271:Or4k77	UTSW	2	111,199,693 (GRCm39)	missense	probably damaging	1.00
R7438:Or4k77	UTSW	2	111,199,707 (GRCm39)	missense	probably damaging	1.00
R7761:Or4k77	UTSW	2	111,199,138 (GRCm39)	missense	probably benign	0.00
R7792:Or4k77	UTSW	2	111,199,748 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16