Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Or1e1f'

657086

Institutional Source

Beutler Lab

Gene Symbol

Or1e1f

Ensembl Gene

ENSMUSG00000057050

Gene Name

olfactory receptor family 1 subfamily E member 1F

Synonyms

Olfr397, GA_x6K02T2P1NL-4121434-4122381, MOR135-28

MMRRC Submission

067916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73855436-73856383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73856223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 263 (S263L)

Ref Sequence

ENSEMBL: ENSMUSP00000150172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121280] [ENSMUST00000213134] [ENSMUST00000216291]

AlphaFold

Q8VEZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121280
AA Change: S263L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: S263L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213134
AA Change: S263L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216291
AA Change: S263L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,246,568 (GRCm39)	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,754,138 (GRCm39)	S152P	probably damaging	Het
Ccnj	T	C	19: 40,833,608 (GRCm39)	S222P	probably damaging	Het
Cdcp2	C	T	4: 106,959,981 (GRCm39)	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,084,532 (GRCm39)	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,247,057 (GRCm39)	P185L	probably damaging	Het
Cpm	T	C	10: 117,515,883 (GRCm39)	V319A	probably damaging	Het
Ctxn2	A	G	2: 124,989,528 (GRCm39)	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,165,021 (GRCm39)	H334L	probably benign	Het
Dab1	A	G	4: 104,336,439 (GRCm39)	K12E	possibly damaging	Het
Efcab3	A	T	11: 104,709,463 (GRCm39)	D1815V	probably benign	Het
Emsy	T	C	7: 98,304,037 (GRCm39)		probably benign	Het
Etv4	G	T	11: 101,674,827 (GRCm39)	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,215,190 (GRCm39)	R484*	probably null	Het
Extl1	A	G	4: 134,098,603 (GRCm39)	C143R	probably benign	Het
Fat3	T	C	9: 16,286,563 (GRCm39)	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,151,722 (GRCm39)	C2511G	probably damaging	Het
Fer	T	A	17: 64,280,144 (GRCm39)	S72T	probably benign	Het
Gdf2	A	G	14: 33,666,797 (GRCm39)	D173G	probably damaging	Het
Grhl3	T	C	4: 135,284,176 (GRCm39)	E222G	probably benign	Het
Gria1	A	T	11: 57,218,410 (GRCm39)	M819L	probably benign	Het
Gsap	A	T	5: 21,427,432 (GRCm39)	R187*	probably null	Het
Heatr6	A	G	11: 83,656,679 (GRCm39)	N314D	probably benign	Het
Hspd1	T	C	1: 55,117,505 (GRCm39)	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,217,649 (GRCm39)	Y8C	probably benign	Het
Lcmt2	A	G	2: 120,970,729 (GRCm39)	V118A	probably damaging	Het
Lmf2	T	C	15: 89,239,005 (GRCm39)	E37G	possibly damaging	Het
Macf1	A	G	4: 123,346,795 (GRCm39)	L1161P	probably damaging	Het
Mbip	T	A	12: 56,377,054 (GRCm39)		probably null	Het
Mgam	A	T	6: 40,671,460 (GRCm39)		probably null	Het
Mmrn1	G	A	6: 60,965,380 (GRCm39)	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943 (GRCm39)	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,449,748 (GRCm39)	L24F	probably damaging	Het
Ncr1	T	A	7: 4,341,120 (GRCm39)	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,429,507 (GRCm39)	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,342,145 (GRCm39)	I500T	possibly damaging	Het
Or10a3	T	A	7: 108,479,973 (GRCm39)	Q280L	possibly damaging	Het
Or6c33	A	G	10: 129,853,445 (GRCm39)	T72A	probably damaging	Het
Pcdha2	A	G	18: 37,074,325 (GRCm39)	D652G	probably damaging	Het
Pde6a	T	A	18: 61,354,018 (GRCm39)	N114K	probably damaging	Het
Pdp2	A	G	8: 105,320,913 (GRCm39)	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,470,018 (GRCm39)	V241A	probably benign	Het
Prkdc	T	A	16: 15,469,400 (GRCm39)	D168E	probably damaging	Het
Psg27	A	T	7: 18,296,015 (GRCm39)	H143Q	probably benign	Het
Serpina16	T	A	12: 103,638,796 (GRCm39)	I264F	probably benign	Het
Slc25a41	G	A	17: 57,348,582 (GRCm39)	H4Y	probably benign	Het
Slco1a8	T	G	6: 141,949,115 (GRCm39)	H87P	probably damaging	Het
Smc3	T	G	19: 53,617,142 (GRCm39)	H518Q	probably benign	Het
Snrpb	G	T	2: 130,015,042 (GRCm39)	T158K	probably damaging	Het
Sobp	A	G	10: 42,898,392 (GRCm39)	F398L	probably damaging	Het
Spidr	T	A	16: 15,958,591 (GRCm39)	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,297,648 (GRCm39)	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972 (GRCm39)	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985 (GRCm39)	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,187,009 (GRCm39)	G59C	probably benign	Het
Tekt1	T	C	11: 72,242,850 (GRCm39)	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 53,030,163 (GRCm39)	D89V	possibly damaging	Het
Trim34b	T	C	7: 103,980,545 (GRCm39)	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,955,531 (GRCm39)	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,198,904 (GRCm39)	V238M	probably damaging	Het
Wipf3	A	G	6: 54,466,070 (GRCm39)	I443V	probably benign	Het

Other mutations in Or1e1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Or1e1f	APN	11	73,855,644 (GRCm39)	missense	probably damaging	1.00
IGL01839:Or1e1f	APN	11	73,855,437 (GRCm39)	start codon destroyed	probably null	1.00
IGL02247:Or1e1f	APN	11	73,855,688 (GRCm39)	missense	probably benign	0.05
IGL02876:Or1e1f	APN	11	73,855,539 (GRCm39)	missense	possibly damaging	0.95
IGL03051:Or1e1f	APN	11	73,855,860 (GRCm39)	missense	probably benign	0.04
IGL03123:Or1e1f	APN	11	73,855,812 (GRCm39)	missense	probably damaging	1.00
IGL03401:Or1e1f	APN	11	73,856,388 (GRCm39)	utr 3 prime	probably benign
3-1:Or1e1f	UTSW	11	73,855,803 (GRCm39)	missense	possibly damaging	0.84
R0496:Or1e1f	UTSW	11	73,855,706 (GRCm39)	missense	probably benign	0.42
R0811:Or1e1f	UTSW	11	73,856,246 (GRCm39)	missense	probably benign	0.02
R0812:Or1e1f	UTSW	11	73,856,246 (GRCm39)	missense	probably benign	0.02
R1503:Or1e1f	UTSW	11	73,855,394 (GRCm39)	utr 5 prime	probably null
R2067:Or1e1f	UTSW	11	73,855,740 (GRCm39)	missense	probably damaging	1.00
R2111:Or1e1f	UTSW	11	73,855,740 (GRCm39)	missense	probably damaging	1.00
R4912:Or1e1f	UTSW	11	73,856,166 (GRCm39)	missense	probably damaging	1.00
R5240:Or1e1f	UTSW	11	73,855,632 (GRCm39)	missense	probably damaging	1.00
R5656:Or1e1f	UTSW	11	73,855,536 (GRCm39)	missense	probably damaging	0.99
R5801:Or1e1f	UTSW	11	73,855,772 (GRCm39)	missense	probably benign	0.39
R6329:Or1e1f	UTSW	11	73,855,568 (GRCm39)	missense	possibly damaging	0.73
R6720:Or1e1f	UTSW	11	73,856,291 (GRCm39)	missense	probably damaging	1.00
R7149:Or1e1f	UTSW	11	73,856,257 (GRCm39)	missense	probably benign	0.01
R7283:Or1e1f	UTSW	11	73,855,634 (GRCm39)	missense	probably damaging	1.00
R8194:Or1e1f	UTSW	11	73,856,240 (GRCm39)	missense	probably benign	0.00
R8466:Or1e1f	UTSW	11	73,855,913 (GRCm39)	missense	probably damaging	1.00
R8882:Or1e1f	UTSW	11	73,855,940 (GRCm39)	missense	probably damaging	0.97
R9256:Or1e1f	UTSW	11	73,856,135 (GRCm39)	missense	probably benign	0.18
Z1176:Or1e1f	UTSW	11	73,856,123 (GRCm39)	frame shift	probably null
Z1177:Or1e1f	UTSW	11	73,855,586 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGGACTTGTCATTATTGTCCC -3'
(R):5'- TGCATACCATTTGAAATTGGGC -3'

Sequencing Primer
(F):5'- AGGACTTGTCATTATTGTCCCATTCC -3'
(R):5'- TGGGCCTACTATTGGAAAACATG -3'

Posted On

2021-01-18