Mutagenetix > Incidental Mutations

Incidental Mutation 'R8194:Olfr397'

635360

Institutional Source

Beutler Lab

Gene Symbol

Olfr397

Ensembl Gene

ENSMUSG00000057050

Gene Name

olfactory receptor 397

Synonyms

GA_x6K02T2P1NL-4121434-4122381, MOR135-28

MMRRC Submission

Accession Numbers

Genbank: NM_146346; MGI: 3030231

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73960817-73967812 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73965414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 269 (I269F)

Ref Sequence

ENSEMBL: ENSMUSP00000113870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121280]

AlphaFold

Q8VEZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000121280
AA Change: I269F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: I269F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	1.3e-6	PFAM
Pfam:7tm_1	41	290	4.3e-35	PFAM
Pfam:7tm_4	139	283	1.2e-44	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230046K03Rik	A	G	10: 83,580,299	I818V	possibly damaging	Het
Arid4a	T	A	12: 71,060,115	Y320*	probably null	Het
Ash1l	T	A	3: 89,052,755	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,785,972	C55*	probably null	Het
Cacna1s	A	T	1: 136,077,692	N405I	probably benign	Het
Capn11	A	T	17: 45,633,399	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,218,380	R71G	probably benign	Het
Ccser2	G	A	14: 36,896,263	R772W	probably damaging	Het
Cenpf	T	A	1: 189,682,403	E172D	probably benign	Het
Cep85	T	C	4: 134,134,089	M627V	probably null	Het
Chd1	G	A	17: 17,374,475		probably benign	Het
Cnst	A	G	1: 179,610,194	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,390,437	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,814,734	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,268	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,327,352		probably null	Het
Lama4	A	G	10: 39,078,720	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,925,120	D1479G	unknown	Het
Man2a2	T	C	7: 80,361,018	K742E	probably benign	Het
Mapk8	A	T	14: 33,382,284	S392T	probably benign	Het
Mark3	T	C	12: 111,592,683	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,916,642	I219V	probably benign	Het
Mlycd	A	T	8: 119,407,593	E278V	probably benign	Het
Muc2	G	T	7: 141,704,252	C29F		Het
Mup20	T	C	4: 62,053,484	I77V	probably benign	Het
Myh3	A	G	11: 67,092,002	E849G	probably damaging	Het
Nedd4	A	G	9: 72,686,107	N154S	probably damaging	Het
Pcdh7	A	T	5: 57,720,336	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,395,060	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,692,511	V19M	probably damaging	Het
Prss35	T	G	9: 86,755,613	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,455,925	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,926,444	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,613,841	Y139H	probably damaging	Het
Slc5a2	T	C	7: 128,271,156	V522A	probably benign	Het
Slc6a6	A	T	6: 91,740,971	Q297L	probably damaging	Het
Sos2	A	C	12: 69,598,824	Y914D	probably damaging	Het
Spata1	G	T	3: 146,489,859	T32N	possibly damaging	Het
Srcap	C	T	7: 127,539,197	R1180C	probably damaging	Het
St14	A	T	9: 31,131,625	M1K	probably null	Het
Tcaf1	T	C	6: 42,675,302	T749A	probably benign	Het
Tcp1	T	C	17: 12,922,734		probably null	Het
Tle6	A	G	10: 81,591,054	V576A	probably damaging	Het
Ttc25	G	A	11: 100,563,676	G429E	probably benign	Het
Usp17lc	T	A	7: 103,418,200	M234K	probably benign	Het
Zdhhc18	A	G	4: 133,613,854	L236P	probably damaging	Het
Zfp266	T	C	9: 20,500,314	D189G	probably benign	Het
Zfp474	A	T	18: 52,639,157	D294V	probably damaging	Het
Zfp568	T	C	7: 30,023,333	F568L	probably damaging	Het
Zfp93	A	G	7: 24,276,054	K488R	probably benign	Het

Other mutations in Olfr397

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Olfr397	APN	11	73964818	missense	probably damaging	1.00
IGL01839:Olfr397	APN	11	73964611	start codon destroyed	probably null	1.00
IGL02247:Olfr397	APN	11	73964862	missense	probably benign	0.05
IGL02876:Olfr397	APN	11	73964713	missense	possibly damaging	0.95
IGL03051:Olfr397	APN	11	73965034	missense	probably benign	0.04
IGL03123:Olfr397	APN	11	73964986	missense	probably damaging	1.00
IGL03401:Olfr397	APN	11	73965562	utr 3 prime	probably benign
3-1:Olfr397	UTSW	11	73964977	missense	possibly damaging	0.84
R0496:Olfr397	UTSW	11	73964880	missense	probably benign	0.42
R0811:Olfr397	UTSW	11	73965420	missense	probably benign	0.02
R0812:Olfr397	UTSW	11	73965420	missense	probably benign	0.02
R1503:Olfr397	UTSW	11	73964568	utr 5 prime	probably null
R2067:Olfr397	UTSW	11	73964914	missense	probably damaging	1.00
R2111:Olfr397	UTSW	11	73964914	missense	probably damaging	1.00
R4912:Olfr397	UTSW	11	73965340	missense	probably damaging	1.00
R5240:Olfr397	UTSW	11	73964806	missense	probably damaging	1.00
R5656:Olfr397	UTSW	11	73964710	missense	probably damaging	0.99
R5801:Olfr397	UTSW	11	73964946	missense	probably benign	0.39
R6329:Olfr397	UTSW	11	73964742	missense	possibly damaging	0.73
R6720:Olfr397	UTSW	11	73965465	missense	probably damaging	1.00
R7149:Olfr397	UTSW	11	73965431	missense	probably benign	0.01
R7283:Olfr397	UTSW	11	73964808	missense	probably damaging	1.00
R8466:Olfr397	UTSW	11	73965087	missense	probably damaging	1.00
R8472:Olfr397	UTSW	11	73965397	missense	possibly damaging	0.78
R8882:Olfr397	UTSW	11	73965114	missense	probably damaging	0.97
R9256:Olfr397	UTSW	11	73965309	missense	probably benign	0.18
Z1176:Olfr397	UTSW	11	73965297	frame shift	probably null
Z1177:Olfr397	UTSW	11	73964760	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGACTTGTCATTATTGTCCCATTC -3'
(R):5'- AAGCCCCTGCATACCATTTG -3'

Sequencing Primer
(F):5'- CCTGCTGATATTTTCATCCTATGCAC -3'
(R):5'- CCCTGCATACCATTTGAAATTGGG -3'

Posted On

2020-07-13