Mutagenetix > Incidental Mutation

Incidental Mutation 'R2224:Or4a67'

241530

Institutional Source

Beutler Lab

Gene Symbol

Or4a67

Ensembl Gene

ENSMUSG00000075115

Gene Name

olfactory receptor family 4 subfamily A member 67

Synonyms

MOR225-12, GA_x6K02T2Q125-50243231-50242221, Olfr1200

MMRRC Submission

040225-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88597647-88598657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88597930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 243 (M243K)

Ref Sequence

ENSEMBL: ENSMUSP00000149757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099811] [ENSMUST00000217588]

AlphaFold

A2ATJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099811
AA Change: M243K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097399
Gene: ENSMUSG00000075115
AA Change: M243K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	3.2e-47	PFAM
Pfam:7tm_1	39	285	2.3e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217588
AA Change: M243K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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
Abcc1	T	G	16: 14,289,932 (GRCm39)	L1416R	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Ahnak	G	A	19: 8,990,355 (GRCm39)		probably benign	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Arsb	T	A	13: 93,930,679 (GRCm39)	F216I	probably damaging	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Brinp3	C	T	1: 146,777,658 (GRCm39)	Q702*	probably null	Het
Btbd9	C	A	17: 30,746,320 (GRCm39)	A169S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep250	A	C	2: 155,833,737 (GRCm39)	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,737,913 (GRCm39)	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,724,026 (GRCm39)	C213R	probably benign	Het
Ddx41	G	A	13: 55,679,214 (GRCm39)	T544I	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Eea1	T	A	10: 95,855,874 (GRCm39)	V637D	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Exo1	A	G	1: 175,714,254 (GRCm39)		probably null	Het
Fbxo21	T	G	5: 118,146,188 (GRCm39)	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,062,650 (GRCm39)	Q59E	possibly damaging	Het
Fpr3	T	A	17: 18,191,455 (GRCm39)	V242D	probably damaging	Het
Fyb1	A	G	15: 6,681,864 (GRCm39)	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,748,052 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17f	A	G	1: 20,849,599 (GRCm39)	V55A	probably damaging	Het
Inpp1	T	A	1: 52,829,290 (GRCm39)	E243V	probably benign	Het
Leap2	A	G	11: 53,313,634 (GRCm39)	L46P	probably damaging	Het
Map4k3	A	T	17: 80,937,883 (GRCm39)	D339E	probably benign	Het
Met	A	G	6: 17,563,721 (GRCm39)		probably null	Het
Mgam	G	T	6: 40,741,208 (GRCm39)		probably null	Het
Mrgpra1	A	G	7: 46,984,854 (GRCm39)	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,132,608 (GRCm39)	Q70L	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Mup18	G	T	4: 61,590,128 (GRCm39)	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nin	A	T	12: 70,108,004 (GRCm39)	I196N	probably damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Odc1	A	G	12: 17,597,336 (GRCm39)	I13V	probably benign	Het
Or1ad1	T	C	11: 50,876,059 (GRCm39)	F177S	probably damaging	Het
Or5m12	T	A	2: 85,735,099 (GRCm39)	I100F	probably benign	Het
Pard3	A	G	8: 128,086,257 (GRCm39)	I286V	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,201,172 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,438,854 (GRCm39)		probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,471,637 (GRCm39)		probably null	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tsbp1	C	A	17: 34,667,737 (GRCm39)		probably null	Het
Uqcrc2	T	A	7: 120,240,937 (GRCm39)	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zbtb4	C	T	11: 69,667,184 (GRCm39)	T163I	probably benign	Het

Other mutations in Or4a67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Or4a67	APN	2	88,597,810 (GRCm39)	missense	probably benign	0.01
PIT4520001:Or4a67	UTSW	2	88,597,921 (GRCm39)	missense	possibly damaging	0.95
R0375:Or4a67	UTSW	2	88,597,985 (GRCm39)	missense	possibly damaging	0.77
R0525:Or4a67	UTSW	2	88,597,658 (GRCm39)	nonsense	probably null
R1467:Or4a67	UTSW	2	88,597,832 (GRCm39)	missense	probably benign	0.02
R1467:Or4a67	UTSW	2	88,597,832 (GRCm39)	missense	probably benign	0.02
R1613:Or4a67	UTSW	2	88,598,149 (GRCm39)	missense	probably damaging	1.00
R2760:Or4a67	UTSW	2	88,597,980 (GRCm39)	missense	possibly damaging	0.61
R3434:Or4a67	UTSW	2	88,598,413 (GRCm39)	missense	probably damaging	1.00
R6156:Or4a67	UTSW	2	88,597,934 (GRCm39)	missense	probably benign	0.01
R6251:Or4a67	UTSW	2	88,598,632 (GRCm39)	missense	probably damaging	1.00
R6582:Or4a67	UTSW	2	88,598,587 (GRCm39)	missense	probably damaging	0.96
R6592:Or4a67	UTSW	2	88,598,471 (GRCm39)	missense	probably damaging	1.00
R6600:Or4a67	UTSW	2	88,598,101 (GRCm39)	missense	probably benign	0.02
R6774:Or4a67	UTSW	2	88,598,228 (GRCm39)	missense	probably benign	0.00
R7140:Or4a67	UTSW	2	88,598,308 (GRCm39)	missense	probably damaging	1.00
R8335:Or4a67	UTSW	2	88,598,117 (GRCm39)	missense	probably damaging	1.00
R8972:Or4a67	UTSW	2	88,598,630 (GRCm39)	missense	possibly damaging	0.56
R9047:Or4a67	UTSW	2	88,598,299 (GRCm39)	missense	probably damaging	1.00
R9380:Or4a67	UTSW	2	88,598,530 (GRCm39)	missense	probably damaging	1.00
R9506:Or4a67	UTSW	2	88,597,840 (GRCm39)	missense	probably damaging	1.00
X0026:Or4a67	UTSW	2	88,597,777 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCACACTTTGTGCATGGC -3'
(R):5'- GTGCTCAGTCTGCCATTCTGTG -3'

Sequencing Primer
(F):5'- GCATGGCACTTTTCATCTCACTG -3'
(R):5'- CTGTGACATTAAGCCGCTTTTGAAG -3'

Posted On

2014-10-15