Mutagenetix > Incidental Mutation

Incidental Mutation 'R6774:Or4a67'

532273

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

044890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88597647-88598657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88598228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 144 (V144I)

Ref Sequence

ENSEMBL: ENSMUSP00000149757 (fasta)

Gene Model

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

AlphaFold

A2ATJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000099811
AA Change: V144I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097399
Gene: ENSMUSG00000075115
AA Change: V144I

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

probably benign
Transcript: ENSMUST00000217588
AA Change: V144I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,908 (GRCm39)	I822N	probably damaging	Het
9930111J21Rik1	A	G	11: 48,838,143 (GRCm39)	S815P	possibly damaging	Het
A430033K04Rik	A	G	5: 138,644,712 (GRCm39)	Y199C	probably benign	Het
Adam34l	T	A	8: 44,078,220 (GRCm39)	H668L	probably benign	Het
Afap1l1	A	T	18: 61,888,732 (GRCm39)	V113E	probably benign	Het
Ahnak2	C	T	12: 112,740,172 (GRCm39)	C494Y	possibly damaging	Het
Atr	A	T	9: 95,809,266 (GRCm39)	E1981D	probably benign	Het
Bmp7	A	G	2: 172,714,751 (GRCm39)	Y353H	probably damaging	Het
Capn11	C	T	17: 45,968,256 (GRCm39)		probably benign	Het
Ccdc103	T	C	11: 102,773,519 (GRCm39)	F47S	probably damaging	Het
Cmas	A	G	6: 142,710,147 (GRCm39)	Y130C	possibly damaging	Het
Cntn5	T	C	9: 10,144,222 (GRCm39)	Y149C	probably damaging	Het
Col12a1	A	C	9: 79,613,619 (GRCm39)	S75R	possibly damaging	Het
Crat	G	A	2: 30,303,195 (GRCm39)	H31Y	probably damaging	Het
Dnah7a	A	G	1: 53,737,810 (GRCm39)	V41A	probably benign	Het
F5	C	T	1: 164,014,447 (GRCm39)	R573C	probably damaging	Het
Gcc2	A	G	10: 58,117,261 (GRCm39)	N1170S	possibly damaging	Het
Gm29666	A	T	15: 84,798,260 (GRCm39)	C100*	probably null	Het
Gm3573	A	T	14: 42,009,472 (GRCm39)	Y158N	possibly damaging	Het
Gtf3c1	G	T	7: 125,240,793 (GRCm39)	A1968E	possibly damaging	Het
Heg1	C	A	16: 33,558,638 (GRCm39)	T815K	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Kif17	A	G	4: 138,002,306 (GRCm39)	Y170C	probably damaging	Het
Kti12	G	A	4: 108,705,652 (GRCm39)	G189R	probably benign	Het
Lrp4	G	A	2: 91,341,849 (GRCm39)	A1821T	probably benign	Het
Mamdc4	T	C	2: 25,456,948 (GRCm39)	I610V	probably benign	Het
Mmp1b	T	C	9: 7,387,914 (GRCm39)	K27E	probably benign	Het
Mob4	A	G	1: 55,187,588 (GRCm39)		probably null	Het
Myc	G	A	15: 61,860,128 (GRCm39)		probably null	Het
Myo5c	A	T	9: 75,196,468 (GRCm39)	I1305F	probably benign	Het
Nprl3	A	G	11: 32,187,381 (GRCm39)	V292A	probably damaging	Het
Ntng2	T	C	2: 29,087,102 (GRCm39)	T373A	probably damaging	Het
Or1f19	T	A	16: 3,410,380 (GRCm39)	V40D	probably damaging	Het
Or5p50	T	A	7: 107,422,395 (GRCm39)	T94S	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,070 (GRCm39)	L222H	unknown	Het
Pard3	T	C	8: 128,137,228 (GRCm39)	L859P	probably damaging	Het
Ppcs	T	C	4: 119,276,285 (GRCm39)	D100G	probably damaging	Het
Prkdc	G	T	16: 15,543,325 (GRCm39)		probably null	Het
Pwwp2b	T	C	7: 138,835,903 (GRCm39)	V448A	probably benign	Het
Rapgef4	A	G	2: 72,056,119 (GRCm39)	K624R	probably benign	Het
Spata31e5	A	T	1: 28,815,974 (GRCm39)	I686N	probably benign	Het
Synj2	C	T	17: 6,088,290 (GRCm39)	S1447L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tnxb	C	A	17: 34,928,606 (GRCm39)	Y2673*	probably null	Het
Trim27	T	A	13: 21,376,624 (GRCm39)	H457Q	probably damaging	Het
Trim72	T	G	7: 127,609,558 (GRCm39)	F453L	probably damaging	Het
Ubr5	A	T	15: 38,015,379 (GRCm39)	M877K	probably damaging	Het
Usp10	T	C	8: 120,678,711 (GRCm39)	L564P	probably benign	Het
Usp54	A	G	14: 20,627,296 (GRCm39)	V454A	probably damaging	Het
Uspl1	T	A	5: 149,150,904 (GRCm39)	D701E	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Zfp35	G	A	18: 24,136,015 (GRCm39)	V120I	possibly damaging	Het
Zfp712	T	C	13: 67,189,568 (GRCm39)	T320A	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
R2224:Or4a67	UTSW	2	88,597,930 (GRCm39)	missense	possibly damaging	0.89
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
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'- GCTTCCCTGCAGATGATCTTG -3'
(R):5'- ATCAGGGACTTGGCAGCAAC -3'

Sequencing Primer
(F):5'- CTGCAGATGATCTTGTCCTCAGAG -3'
(R):5'- TGGCAGGTGTGGAAATCT -3'

Posted On

2018-08-29