Mutagenetix > Incidental Mutations

Incidental Mutation 'R0669:Olfr472'

62137

Institutional Source

Beutler Lab

Gene Symbol

Olfr472

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor 472

Synonyms

MOR204-5, GA_x6K02T2PBJ9-10231953-10232885

MMRRC Submission

038854-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0669 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

107897902-107907762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107903239 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 174 (I174K)

Ref Sequence

ENSEMBL: ENSMUSP00000150404 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084760
AA Change: I174K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: I174K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-49	PFAM
Pfam:7tm_1	41	290	8.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209670
AA Change: I174K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210420
AA Change: I174K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210856

Predicted Effect

probably damaging
Transcript: ENSMUST00000216937
AA Change: I174K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

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
4933427D14Rik	T	A	11: 72,198,845	H71L	possibly damaging	Het
A230050P20Rik	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717		probably benign	Het
Abcb11	C	A	2: 69,329,318	V10L	probably benign	Het
Abcb9	T	C	5: 124,062,887	T689A	probably damaging	Het
Adam22	A	G	5: 8,143,036		probably benign	Het
Adamts5	A	G	16: 85,899,726	I181T	probably benign	Het
Adamts9	A	T	6: 92,880,957	V231D	probably damaging	Het
Angptl6	C	T	9: 20,876,527	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,528	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,467,949	V110A	probably benign	Het
Ccdc32	A	G	2: 119,019,167		probably benign	Het
Cela3b	T	C	4: 137,428,530	H22R	probably benign	Het
Cep44	T	C	8: 56,540,973	T190A	possibly damaging	Het
Chsy1	T	C	7: 66,171,687	C557R	probably damaging	Het
Cntd1	A	G	11: 101,287,498	T308A	probably damaging	Het
Cutal	T	C	2: 34,885,866		probably benign	Het
Dgcr14	T	C	16: 17,907,555	Y221C	probably damaging	Het
Dna2	A	G	10: 62,956,989	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,693,704	S1418R	probably benign	Het
Dnpep	A	G	1: 75,311,778		probably benign	Het
Dock7	A	T	4: 98,987,479	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,881,238		probably benign	Het
Fam69b	A	G	2: 26,634,866	T93A	probably benign	Het
Fer1l6	T	C	15: 58,553,724		probably null	Het
Gm5592	T	C	7: 41,155,830		probably benign	Het
Ipp	A	G	4: 116,537,876	Y536C	probably damaging	Het
Krt72	T	C	15: 101,778,305	E402G	probably damaging	Het
Lamb3	T	C	1: 193,332,330	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120	T287S	probably benign	Het
Lipo3	T	A	19: 33,559,625	T232S	probably benign	Het
Lrrc63	G	A	14: 75,126,110	H194Y	probably benign	Het
Map3k13	A	G	16: 21,906,524	T416A	probably benign	Het
Mcm3	A	T	1: 20,804,929		probably null	Het
Mms22l	T	C	4: 24,517,223	V258A	probably benign	Het
Mrpl46	A	T	7: 78,782,883	L49*	probably null	Het
Mrs2	T	C	13: 24,993,759	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,419,268	Y403*	probably null	Het
Muc20	G	A	16: 32,794,480	P176S	unknown	Het
Mup21	C	T	4: 62,150,727	C9Y	unknown	Het
Mup-ps21	A	T	4: 62,030,770		noncoding transcript	Het
Mybph	T	G	1: 134,197,343		probably null	Het
Mypn	A	G	10: 63,134,923		probably benign	Het
Nav2	T	C	7: 49,408,683	S124P	probably damaging	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Numa1	A	C	7: 101,999,677	I872L	probably benign	Het
Olfr1206	A	T	2: 88,864,928	M108L	probably benign	Het
Olfr13	C	T	6: 43,174,004	T6I	probably benign	Het
Olfr293	A	G	7: 86,664,336	I225V	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pcdhb9	A	T	18: 37,402,255	N434I	probably damaging	Het
Pigq	A	T	17: 25,936,762		probably null	Het
Plxna2	T	G	1: 194,788,837	V972G	probably damaging	Het
Psma3	G	A	12: 70,988,495		probably benign	Het
Ptpn13	A	G	5: 103,556,109	T1336A	probably benign	Het
Rdh7	T	C	10: 127,884,729	D258G	probably benign	Het
Serpinb6c	A	G	13: 33,899,269	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,541,349	Y218F	probably benign	Het
Slc12a8	A	T	16: 33,550,904	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,706,200	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,289,164	I334L	probably benign	Het
Sorcs1	A	G	19: 50,241,942		probably benign	Het
Taar8c	A	G	10: 24,101,503	L137P	probably damaging	Het
Tcam1	A	T	11: 106,285,426	D326V	possibly damaging	Het
Telo2	A	T	17: 25,105,823	V461D	probably benign	Het
Tmprss7	A	T	16: 45,677,962	C351*	probably null	Het
Trim66	T	A	7: 109,454,992		probably benign	Het
Ube2d1	G	T	10: 71,262,110	H32N	probably benign	Het
Ubp1	T	C	9: 113,964,668		probably benign	Het
Vma21	C	T	X: 71,820,157	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,787,420	S46P	probably benign	Het
Wars	T	C	12: 108,866,018	S374G	probably benign	Het
Wbp1	T	C	6: 83,119,345	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,473,785		noncoding transcript	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
R0081:Olfr472	UTSW	7	107903005	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- CGAGTGCTTCTTACTGGCTGCTATG -3'
(R):5'- GATTTGGGCATCACGTAAATGACGG -3'

Sequencing Primer
(F):5'- GCTATGGCCTATGATCGCTA -3'
(R):5'- CGTAAATGACGGTAATGGTCCC -3'

Posted On

2013-07-30