Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Olfr472'

702758

Institutional Source

Beutler Lab

Gene Symbol

Olfr472

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor 472

Synonyms

MOR204-5, GA_x6K02T2PBJ9-10231953-10232885

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107897902-107907762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107903320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 201 (I201N)

Ref Sequence

ENSEMBL: ENSMUSP00000148150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]

AlphaFold

Q8VG43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209670
AA Change: I201N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210420
AA Change: I201N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216937
AA Change: I201N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016	Q1683P	probably damaging	Het
A2m	T	C	6: 121,660,906	S845P	probably benign	Het
Actn1	T	A	12: 80,172,971	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329	A354V	probably benign	Het
Atg2b	A	G	12: 105,652,100	S898P	probably damaging	Het
Atxn1	T	A	13: 45,557,204	T751S	probably benign	Het
Begain	T	A	12: 109,033,193	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,141,871	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cop1	C	T	1: 159,288,983	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945		probably null	Het
Klf10	A	G	15: 38,297,758	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640	N226I	unknown	Het
Olfr715	T	C	7: 107,128,626	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxna1	T	C	6: 89,329,559	R1430G	probably null	Het
Plxna4	T	C	6: 32,178,380	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286	Y619C	probably damaging	Het
Sf3b3	T	C	8: 110,812,026	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,872,309	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074	S13*	probably null	Het
Srek1	T	C	13: 103,753,146		probably null	Het
Sugp1	G	T	8: 70,056,570	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342	C325S	probably benign	Het
Themis	T	C	10: 28,863,394	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320	E233G	probably damaging	Het

Other mutations in Olfr472

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Olfr472	APN	7	107903104	missense	probably damaging	1.00
IGL02002:Olfr472	APN	7	107903290	missense	possibly damaging	0.81
IGL02320:Olfr472	APN	7	107902831	missense	possibly damaging	0.78
IGL02701:Olfr472	APN	7	107903442	missense	probably benign	0.42
IGL03022:Olfr472	APN	7	107902981	missense	probably benign	0.18
IGL03214:Olfr472	APN	7	107902966	missense	probably benign	0.00
IGL03257:Olfr472	APN	7	107902756	missense	probably benign	0.01
IGL03372:Olfr472	APN	7	107903370	missense	probably damaging	1.00
G1Funyon:Olfr472	UTSW	7	107903626	missense	probably benign	0.24
R0081:Olfr472	UTSW	7	107903005	missense	probably benign	0.00
R0669:Olfr472	UTSW	7	107903239	missense	probably damaging	1.00
R0932:Olfr472	UTSW	7	107903190	missense	possibly damaging	0.94
R1158:Olfr472	UTSW	7	107902923	missense	possibly damaging	0.75
R1746:Olfr472	UTSW	7	107902886	missense	probably benign	0.01
R3777:Olfr472	UTSW	7	107902747	missense	probably benign
R3778:Olfr472	UTSW	7	107902747	missense	probably benign
R4605:Olfr472	UTSW	7	107903238	missense	probably benign	0.24
R4661:Olfr472	UTSW	7	107902981	missense	probably benign	0.18
R4675:Olfr472	UTSW	7	107903360	missense	probably damaging	1.00
R5374:Olfr472	UTSW	7	107903491	missense	possibly damaging	0.52
R5686:Olfr472	UTSW	7	107902912	missense	probably damaging	0.99
R6030:Olfr472	UTSW	7	107903413	missense	probably benign	0.06
R6030:Olfr472	UTSW	7	107903413	missense	probably benign	0.06
R6164:Olfr472	UTSW	7	107903388	missense	probably benign	0.01
R6347:Olfr472	UTSW	7	107902950	missense	possibly damaging	0.68
R6995:Olfr472	UTSW	7	107903622	missense	probably benign	0.13
R7035:Olfr472	UTSW	7	107902933	missense	probably benign
R7818:Olfr472	UTSW	7	107903023	missense	probably benign	0.01
R7890:Olfr472	UTSW	7	107903043	missense	probably benign	0.01
R8189:Olfr472	UTSW	7	107902732	missense	probably damaging	0.99
R8301:Olfr472	UTSW	7	107903626	missense	probably benign	0.24
R8965:Olfr472	UTSW	7	107903107	missense	probably damaging	1.00
R9478:Olfr472	UTSW	7	107903031	missense	probably damaging	0.99
R9566:Olfr472	UTSW	7	107903202	missense	possibly damaging	0.52
Z1176:Olfr472	UTSW	7	107903058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAACACTCATGTCCTCTAGAGTC -3'
(R):5'- AGCTCGATTTGGGCATCAC -3'

Sequencing Primer
(F):5'- ACTCATGTCCTCTAGAGTCTGTTTTC -3'
(R):5'- CTCGATTTGGGCATCACGTAAATGAC -3'

Posted On

2022-03-25