Mutagenetix > Incidental Mutation

Incidental Mutation 'R7823:Or4a75'

601978

Institutional Source

Beutler Lab

Gene Symbol

Or4a75

Ensembl Gene

ENSMUSG00000111239

Gene Name

olfactory receptor family 4 subfamily A member 75

Synonyms

Olfr1248, GA_x6K02T2Q125-51059648-51058725, MOR231-10

MMRRC Submission

045877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7823 (G1)

Quality Score

187.009

Status

Validated

Chromosome

Chromosomal Location

89447512-89448589 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 89447613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 308 (*308Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000216129] [ENSMUST00000216424]

AlphaFold

A0A1L1SSZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000111532

SMART Domains

Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.2e-48	PFAM
Pfam:7tm_1	39	285	1.6e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216129
AA Change: *308Q

Predicted Effect

probably benign
Transcript: ENSMUST00000216424

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (68/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Alox15	C	A	11: 70,235,494 (GRCm39)	V623L	possibly damaging	Het
Angpt4	T	G	2: 151,753,286 (GRCm39)	L12R	unknown	Het
Cdh24	C	T	14: 54,874,875 (GRCm39)	A42T	probably damaging	Het
Cep250	T	A	2: 155,807,336 (GRCm39)	S234T	possibly damaging	Het
Clnk	T	A	5: 38,907,694 (GRCm39)	Y188F	probably benign	Het
Csmd2	A	T	4: 128,103,698 (GRCm39)	T306S		Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dgka	T	A	10: 128,572,135 (GRCm39)	Y50F	probably benign	Het
Dgkh	C	T	14: 78,841,921 (GRCm39)	V434I	probably benign	Het
Epb41	A	G	4: 131,701,993 (GRCm39)		probably null	Het
Fam220a	A	G	5: 143,549,011 (GRCm39)	D141G	probably damaging	Het
Fbxo11	A	G	17: 88,300,610 (GRCm39)	L807S	probably damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Ggt1	G	A	10: 75,410,175 (GRCm39)	V36M	possibly damaging	Het
Gjb2	T	C	14: 57,337,963 (GRCm39)	I82V	probably benign	Het
Gm7579	T	A	7: 141,766,307 (GRCm39)	C238S	unknown	Het
Hps1	G	A	19: 42,744,146 (GRCm39)	T681M	possibly damaging	Het
Iqck	T	C	7: 118,472,046 (GRCm39)	Y64H	probably damaging	Het
Ldlr	G	A	9: 21,653,602 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,410,800 (GRCm39)	K523Q	probably damaging	Het
Mon2	A	T	10: 122,868,559 (GRCm39)	I498N	probably damaging	Het
Mphosph9	T	C	5: 124,442,319 (GRCm39)	E373G	probably damaging	Het
Mthfr	T	C	4: 148,135,944 (GRCm39)	I314T	probably benign	Het
Mtmr4	T	G	11: 87,503,015 (GRCm39)	I1023S	probably damaging	Het
Myo9a	T	A	9: 59,719,233 (GRCm39)	F507I	probably damaging	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Nxpe5	A	G	5: 138,237,844 (GRCm39)	R123G	possibly damaging	Het
Obscn	T	C	11: 58,998,766 (GRCm39)	S1369G	probably damaging	Het
Oga	A	G	19: 45,765,354 (GRCm39)	V151A	possibly damaging	Het
Or52m2	A	G	7: 102,264,164 (GRCm39)	S11P	probably benign	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Or6c33	T	A	10: 129,854,136 (GRCm39)	M302K	probably benign	Het
Or6k2	A	G	1: 173,987,254 (GRCm39)	K305R	probably benign	Het
Or8b57	A	T	9: 40,003,644 (GRCm39)	V202E	probably damaging	Het
Pak6	G	A	2: 118,525,793 (GRCm39)	A618T	probably benign	Het
Pax7	T	A	4: 139,468,150 (GRCm39)	E489V	probably benign	Het
Phactr4	G	A	4: 132,088,930 (GRCm39)	R651*	probably null	Het
Pik3c2b	C	T	1: 133,030,043 (GRCm39)	R1435C	probably damaging	Het
Pla2g4c	A	T	7: 13,063,944 (GRCm39)	I68F	probably damaging	Het
Plppr1	A	G	4: 49,325,703 (GRCm39)	M300V	probably benign	Het
Ptgfrn	C	T	3: 100,950,725 (GRCm39)	V863I	probably damaging	Het
Rabep2	T	C	7: 126,037,893 (GRCm39)	S222P	probably damaging	Het
Ramacl	A	G	13: 67,055,351 (GRCm39)		probably benign	Het
Rbm20	A	T	19: 53,831,785 (GRCm39)	D673V	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scn4a	C	A	11: 106,233,334 (GRCm39)	A413S	probably damaging	Het
Scn9a	A	T	2: 66,314,135 (GRCm39)	M1850K	probably damaging	Het
Sh3tc2	T	A	18: 62,086,188 (GRCm39)	M1K	probably null	Het
Slc22a28	G	A	19: 8,041,890 (GRCm39)	T439I	probably benign	Het
Slc25a36	A	G	9: 96,966,444 (GRCm39)		probably null	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata3	T	C	1: 85,949,781 (GRCm39)		probably benign	Het
Srp68	C	T	11: 116,156,265 (GRCm39)	R159Q	probably damaging	Het
Ssbp2	C	A	13: 91,790,448 (GRCm39)	L104I	possibly damaging	Het
St8sia3	T	A	18: 64,400,027 (GRCm39)	F7L	probably benign	Het
Stard9	T	C	2: 120,532,587 (GRCm39)	V2948A	probably damaging	Het
Syne4	A	G	7: 30,018,280 (GRCm39)	T341A	probably benign	Het
Tcf7l2	T	A	19: 55,731,521 (GRCm39)	D91E	possibly damaging	Het
Tekt5	T	A	16: 10,203,943 (GRCm39)	I236F	probably damaging	Het
Tlk2	T	C	11: 105,144,133 (GRCm39)	Y316H	probably damaging	Het
Tmem184b	C	T	15: 79,249,491 (GRCm39)	A326T	probably benign	Het
Tnks2	G	A	19: 36,829,954 (GRCm39)		probably null	Het
Trpc4	C	A	3: 54,209,640 (GRCm39)	Y668*	probably null	Het
Ttc9c	A	T	19: 8,793,286 (GRCm39)	F118Y	probably benign	Het
Ulk1	C	T	5: 110,946,780 (GRCm39)	C95Y	probably damaging	Het
Vars2	A	C	17: 35,970,028 (GRCm39)	L787R	probably damaging	Het
Vwa3a	T	C	7: 120,372,185 (GRCm39)	S254P	probably damaging	Het
Wdr81	T	C	11: 75,340,627 (GRCm39)	Y1250C	probably damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zbtb38	A	T	9: 96,568,029 (GRCm39)	C1018*	probably null	Het
Zfp622	C	T	15: 25,984,709 (GRCm39)	T25M	probably damaging	Het

Other mutations in Or4a75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02871:Or4a75	APN	2	89,448,504 (GRCm39)	missense	probably benign	0.00
PIT4431001:Or4a75	UTSW	2	89,448,201 (GRCm39)	missense	probably benign	0.00
R0504:Or4a75	UTSW	2	89,448,438 (GRCm39)	missense	probably damaging	1.00
R0761:Or4a75	UTSW	2	89,448,179 (GRCm39)	missense	probably damaging	1.00
R2176:Or4a75	UTSW	2	89,447,924 (GRCm39)	missense	possibly damaging	0.54
R3722:Or4a75	UTSW	2	89,448,503 (GRCm39)	missense	possibly damaging	0.88
R4030:Or4a75	UTSW	2	89,448,207 (GRCm39)	missense	probably damaging	0.99
R4440:Or4a75	UTSW	2	89,448,512 (GRCm39)	missense	probably damaging	1.00
R4756:Or4a75	UTSW	2	89,447,814 (GRCm39)	missense	possibly damaging	0.86
R4981:Or4a75	UTSW	2	89,447,769 (GRCm39)	missense	probably damaging	1.00
R5678:Or4a75	UTSW	2	89,447,625 (GRCm39)	missense	probably benign
R6503:Or4a75	UTSW	2	89,447,922 (GRCm39)	missense	possibly damaging	0.76
R6569:Or4a75	UTSW	2	89,448,359 (GRCm39)	missense	possibly damaging	0.83
R6770:Or4a75	UTSW	2	89,448,206 (GRCm39)	missense	probably benign	0.39
R8423:Or4a75	UTSW	2	89,448,331 (GRCm39)	missense	probably damaging	1.00
R8438:Or4a75	UTSW	2	89,448,054 (GRCm39)	missense	possibly damaging	0.60
R9046:Or4a75	UTSW	2	89,448,496 (GRCm39)	unclassified	probably benign
RF008:Or4a75	UTSW	2	89,447,711 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCAGTGAATAGCAGGCTTGTATC -3'
(R):5'- ACATCATGGTGGTTGTCCTC -3'

Sequencing Primer
(F):5'- TAGCAGGCTTGTATCAAGTGAAC -3'
(R):5'- GTTAGACCTATCTCCAACTTTC -3'

Posted On

2019-12-03