Mutagenetix > Incidental Mutation

Incidental Mutation 'R9179:Or4a71'

696872

Institutional Source

Beutler Lab

Gene Symbol

Or4a71

Ensembl Gene

ENSMUSG00000075084

Gene Name

olfactory receptor family 4 subfamily A member 71

Synonyms

Olfr1243, MOR231-4, GA_x6K02T2Q125-50972538-50971621

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R9179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89357835-89358752 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 89358494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 87 (K87*)

Ref Sequence

ENSEMBL: ENSMUSP00000149464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]

AlphaFold

Q8VGM7

Predicted Effect

probably null
Transcript: ENSMUST00000099775
AA Change: K87*

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: K87*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.2e-5	PFAM
Pfam:7tm_1	39	285	2.1e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000144885
AA Change: K87*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	A	6: 124,333,882 (GRCm39)	M33L	probably benign	Het
2310003L06Rik	A	G	5: 88,119,890 (GRCm39)	T216A	probably benign	Het
9330161L09Rik	A	C	12: 103,373,837 (GRCm39)	C12G	unknown	Het
Ahdc1	T	A	4: 132,788,929 (GRCm39)	F57I	possibly damaging	Het
Amotl1	C	A	9: 14,461,787 (GRCm39)	A809S	possibly damaging	Het
Ankfn1	C	T	11: 89,414,011 (GRCm39)	M121I	probably benign	Het
Aspm	A	G	1: 139,404,453 (GRCm39)	D1261G	probably damaging	Het
Axl	T	C	7: 25,469,658 (GRCm39)	T502A	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Ccdc102a	A	G	8: 95,639,748 (GRCm39)	V182A	possibly damaging	Het
Cdh23	C	T	10: 60,153,664 (GRCm39)	A2309T	probably benign	Het
Cfap69	A	T	5: 5,676,064 (GRCm39)	N210K	probably benign	Het
Cnot1	A	G	8: 96,500,054 (GRCm39)	S147P	probably benign	Het
Cntnap5c	T	C	17: 58,600,912 (GRCm39)	S752P	probably benign	Het
Cyp3a41a	A	T	5: 145,642,654 (GRCm39)	M235K	probably benign	Het
Cyp4f15	A	G	17: 32,919,185 (GRCm39)	D336G	possibly damaging	Het
Dagla	A	G	19: 10,228,525 (GRCm39)	I631T	possibly damaging	Het
Dph6	C	T	2: 114,353,591 (GRCm39)	C199Y	probably damaging	Het
Ermard	T	A	17: 15,273,495 (GRCm39)	L360Q	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,708 (GRCm39)	T190A	probably benign	Het
Fgfr3	G	T	5: 33,887,316 (GRCm39)	V212L	possibly damaging	Het
Flnb	C	A	14: 7,887,541 (GRCm38)	C450*	probably null	Het
Gls	T	C	1: 52,239,015 (GRCm39)	Y362C	probably damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Gns	T	C	10: 121,216,080 (GRCm39)	F276L		Het
Grin2d	A	G	7: 45,506,176 (GRCm39)	S572P	probably damaging	Het
Impa2	C	T	18: 67,422,473 (GRCm39)		probably benign	Het
Itgal	A	T	7: 126,905,883 (GRCm39)	D355V	probably benign	Het
Kdm6b	A	T	11: 69,297,521 (GRCm39)		probably null	Het
Klk1b1	T	A	7: 43,618,715 (GRCm39)	C31S	probably damaging	Het
Ldb3	A	T	14: 34,277,312 (GRCm39)	V354E	probably benign	Het
Mettl21c	T	A	1: 44,049,142 (GRCm39)	Y135F	probably benign	Het
Mocs1	A	G	17: 49,740,303 (GRCm39)	T77A	probably damaging	Het
Ndufs1	T	C	1: 63,209,274 (GRCm39)	N30D	probably benign	Het
Or1j11	T	C	2: 36,312,126 (GRCm39)	S239P	probably damaging	Het
Otog	C	A	7: 45,937,885 (GRCm39)	P1865T	possibly damaging	Het
Pabpc1l	T	C	2: 163,873,140 (GRCm39)	S137P	probably damaging	Het
Pilrb1	C	A	5: 137,855,657 (GRCm39)	W78L	probably damaging	Het
Plekha6	A	G	1: 133,214,085 (GRCm39)	Y832C	possibly damaging	Het
Ppan	C	A	9: 20,803,199 (GRCm39)	Q424K	probably benign	Het
Ppp1r12a	T	A	10: 108,087,782 (GRCm39)	N544K	probably damaging	Het
Pramel16	T	C	4: 143,676,294 (GRCm39)	E270G	probably benign	Het
Pstpip2	A	G	18: 77,961,155 (GRCm39)	D246G	possibly damaging	Het
Rasef	G	A	4: 73,662,356 (GRCm39)	T198I	probably damaging	Het
Rbm12	T	C	2: 155,938,463 (GRCm39)	H603R	probably benign	Het
Rims1	T	C	1: 22,482,490 (GRCm39)	R179G	probably damaging	Het
Scel	T	C	14: 103,811,836 (GRCm39)	L288P	possibly damaging	Het
Sel1l	A	T	12: 91,778,726 (GRCm39)	D696E	probably benign	Het
Slc4a8	A	G	15: 100,689,482 (GRCm39)	K416R	possibly damaging	Het
Tmem132b	A	T	5: 125,700,115 (GRCm39)	M218L	probably benign	Het
Tnrc6a	T	C	7: 122,791,881 (GRCm39)	S1800P	probably benign	Het
Tpcn1	A	C	5: 120,680,015 (GRCm39)	L576R	probably damaging	Het
Vmn2r34	T	G	7: 7,675,723 (GRCm39)	Q555P	possibly damaging	Het
Vwa8	C	T	14: 79,335,801 (GRCm39)	T1419I	probably benign	Het
Xrn2	T	C	2: 146,855,081 (GRCm39)	Y14H	probably benign	Het
Zfp1007	A	G	5: 109,823,708 (GRCm39)	C581R	probably damaging	Het
Zfyve28	A	T	5: 34,382,376 (GRCm39)	D241E	probably benign	Het

Other mutations in Or4a71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Or4a71	APN	2	89,358,551 (GRCm39)	missense	probably damaging	1.00
IGL01940:Or4a71	APN	2	89,358,154 (GRCm39)	missense	probably damaging	0.99
IGL02553:Or4a71	APN	2	89,358,275 (GRCm39)	missense	probably benign
R0105:Or4a71	UTSW	2	89,358,707 (GRCm39)	missense	probably benign	0.00
R0105:Or4a71	UTSW	2	89,358,707 (GRCm39)	missense	probably benign	0.00
R0607:Or4a71	UTSW	2	89,358,451 (GRCm39)	missense	possibly damaging	0.88
R0764:Or4a71	UTSW	2	89,358,340 (GRCm39)	missense	probably benign	0.05
R1779:Or4a71	UTSW	2	89,357,989 (GRCm39)	missense	probably benign	0.15
R2221:Or4a71	UTSW	2	89,358,281 (GRCm39)	missense	probably benign	0.05
R3853:Or4a71	UTSW	2	89,357,917 (GRCm39)	missense	possibly damaging	0.94
R3886:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R3887:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R3888:Or4a71	UTSW	2	89,358,076 (GRCm39)	missense	possibly damaging	0.81
R4431:Or4a71	UTSW	2	89,357,987 (GRCm39)	missense	probably damaging	1.00
R4479:Or4a71	UTSW	2	89,358,514 (GRCm39)	missense	possibly damaging	0.89
R6807:Or4a71	UTSW	2	89,357,932 (GRCm39)	missense	probably damaging	1.00
R7025:Or4a71	UTSW	2	89,357,948 (GRCm39)	missense	probably damaging	0.98
R7094:Or4a71	UTSW	2	89,357,902 (GRCm39)	missense	probably damaging	1.00
R7144:Or4a71	UTSW	2	89,357,901 (GRCm39)	missense	probably damaging	1.00
R7972:Or4a71	UTSW	2	89,357,948 (GRCm39)	missense	probably benign	0.02
R8013:Or4a71	UTSW	2	89,358,280 (GRCm39)	missense	probably benign	0.05
R9101:Or4a71	UTSW	2	89,358,721 (GRCm39)	missense	possibly damaging	0.93
R9112:Or4a71	UTSW	2	89,358,337 (GRCm39)	missense	probably damaging	1.00
R9193:Or4a71	UTSW	2	89,357,987 (GRCm39)	missense	probably damaging	1.00
R9708:Or4a71	UTSW	2	89,358,214 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTAAGATGCCTCCAACTCCAG -3'
(R):5'- ACCTTACTCAAGATCCTGCTG -3'

Sequencing Primer
(F):5'- GCTACCAGCAACAGAAGAATG -3'
(R):5'- AAAGCCTTATTTGTCTTGTTTTCAC -3'

Posted On

2022-02-07