Mutagenetix > Incidental Mutation

Incidental Mutation 'R7025:Or4a71'

545890

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

045126-MU

Accession Numbers

Essential gene?

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

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89357835-89358752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89357948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 269 (I269F)

Ref Sequence

ENSEMBL: ENSMUSP00000149464 (fasta)

Gene Model

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

AlphaFold

Q8VGM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099775
AA Change: I269F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: I269F

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 damaging
Transcript: ENSMUST00000144885
AA Change: I269F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 102,995,364 (GRCm39)	L90M	probably damaging	Het
Acot7	T	C	4: 152,262,646 (GRCm39)	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,420 (GRCm39)	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,112,117 (GRCm39)	R593*	probably null	Het
Bicral	T	C	17: 47,112,594 (GRCm39)	T869A	probably benign	Het
Brca2	C	T	5: 150,463,943 (GRCm39)	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,557,666 (GRCm39)	Q699*	probably null	Het
Ccser2	T	C	14: 36,661,964 (GRCm39)	N407D	probably damaging	Het
Cd300lg	A	G	11: 101,933,900 (GRCm39)	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,900 (GRCm39)	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,440,950 (GRCm39)	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,659,419 (GRCm39)	D137V	probably damaging	Het
Dbr1	A	G	9: 99,458,036 (GRCm39)	T19A	probably damaging	Het
Dnah3	C	T	7: 119,629,233 (GRCm39)	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,624,508 (GRCm39)	D70N	probably damaging	Het
Elk4	C	A	1: 131,947,107 (GRCm39)	P366Q	probably damaging	Het
Eml4	A	C	17: 83,732,740 (GRCm39)	D131A	probably benign	Het
Faap24	A	G	7: 35,092,296 (GRCm39)	I207T	possibly damaging	Het
Fam219a	T	C	4: 41,521,925 (GRCm39)	S41G	probably benign	Het
Gask1b	T	C	3: 79,793,855 (GRCm39)	Y108H	probably damaging	Het
Ifi203	T	C	1: 173,755,951 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,408,504 (GRCm39)	V295A	probably benign	Het
Kif2a	A	G	13: 107,119,102 (GRCm39)	Y267H	probably damaging	Het
Kprp	T	A	3: 92,732,504 (GRCm39)	Q182L	probably benign	Het
Krt90	T	C	15: 101,465,610 (GRCm39)	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,313,372 (GRCm39)	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,029,535 (GRCm39)	Y813S	unknown	Het
Myh7	C	A	14: 55,212,101 (GRCm39)	E1548*	probably null	Het
Myh8	A	G	11: 67,188,365 (GRCm39)	T1009A	probably benign	Het
Nab2	T	A	10: 127,502,377 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,186,285 (GRCm39)	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,100,505 (GRCm39)	V155G	probably damaging	Het
Nmur1	C	A	1: 86,315,570 (GRCm39)	M65I	possibly damaging	Het
Nop56	C	T	2: 130,119,801 (GRCm39)	R81*	probably null	Het
Npnt	C	T	3: 132,614,157 (GRCm39)	C47Y	probably damaging	Het
Nrp1	G	T	8: 129,207,435 (GRCm39)	C610F	probably damaging	Het
Or5d45	T	C	2: 88,153,606 (GRCm39)	K148E	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,544 (GRCm39)	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501 (GRCm39)	Q93*	probably null	Het
Pcnt	G	T	10: 76,239,669 (GRCm39)	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,631,499 (GRCm39)	Q1137*	probably null	Het
Pfas	A	T	11: 68,881,586 (GRCm39)	D959E	probably benign	Het
Pira13	T	A	7: 3,824,261 (GRCm39)	K629*	probably null	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,455,107 (GRCm39)		probably benign	Het
Prpf40b	C	T	15: 99,204,281 (GRCm39)	Q182*	probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,328,322 (GRCm39)	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,307,401 (GRCm39)	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,054,706 (GRCm39)	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,137,944 (GRCm39)	P544S	probably benign	Het
Stab2	T	C	10: 86,686,701 (GRCm39)	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,110,052 (GRCm39)	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,000,973 (GRCm39)	V378I	possibly damaging	Het
Trpm1	A	T	7: 63,876,462 (GRCm39)		probably null	Het
Ubqln3	A	G	7: 103,790,482 (GRCm39)	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,870,736 (GRCm39)	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,345 (GRCm39)	I393F	possibly damaging	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
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
R9179:Or4a71	UTSW	2	89,358,494 (GRCm39)	nonsense	probably null
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'- GAGCACAGCATCCCTTGTTAG -3'
(R):5'- TCACTGTCATTGCCAATGGTG -3'

Sequencing Primer
(F):5'- GCACAGCATCCCTTGTTAGAATTTAC -3'
(R):5'- AATCTGTGTGGGAATTTTCACC -3'

Posted On

2019-05-13