Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Or1e1f'

448369

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

043390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73855436-73856383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73855772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 113 (F113L)

Ref Sequence

ENSEMBL: ENSMUSP00000150172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108465] [ENSMUST00000121280] [ENSMUST00000213134] [ENSMUST00000216291]

AlphaFold

Q8VEZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000108465
AA Change: F113L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104105
Gene: ENSMUSG00000062128
AA Change: F113L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.9e-60	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.8e-8	PFAM
Pfam:7tm_1	41	290	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121280
AA Change: F113L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: F113L

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

probably benign
Transcript: ENSMUST00000213134
AA Change: F113L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215020

Predicted Effect

probably benign
Transcript: ENSMUST00000216291
AA Change: F113L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.2999

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	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
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
R8472:Or1e1f	UTSW	11	73,856,223 (GRCm39)	missense	possibly damaging	0.78
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'- GCAAGACCTTTTCTATGCCCTG -3'
(R):5'- TTGTTAGCACAGAAGGAGAGCC -3'

Sequencing Primer
(F):5'- GTACCTCACCACTGCCCTGG -3'
(R):5'- AGAGCCGAGCCATGAGC -3'

Posted On

2016-12-15