Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Or1e1f'

554012

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

Accession Numbers

Essential gene?

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

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73855436-73856383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73856257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 274 (M274I)

Ref Sequence

ENSEMBL: ENSMUSP00000150369 (fasta)

Gene Model

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

AlphaFold

Q8VEZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000121280
AA Change: M274I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: M274I

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: M274I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000216291
AA Change: M274I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Dsg2	T	C	18: 20,712,511 (GRCm39)	S172P	probably damaging	Het
Gm1979	T	C	5: 26,206,945 (GRCm39)	N136S	probably benign	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,628,841 (GRCm39)	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nepro	T	A	16: 44,550,078 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	probably damaging	Het
Zfp553	A	G	7: 126,835,605 (GRCm39)	S387G	possibly 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
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
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'- AGGACTTGTCATTATTGTCCCATTC -3'
(R):5'- AAAGCCCCTGCATACCATTTG -3'

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

Posted On

2019-05-15