Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Or1e1f'

676996

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

068750-MU

Accession Numbers

Essential gene?

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

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73855436-73856383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73855940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 169 (C169G)

Ref Sequence

ENSEMBL: ENSMUSP00000150369 (fasta)

Gene Model

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

AlphaFold

Q8VEZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000121280
AA Change: C169G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: C169G

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 damaging
Transcript: ENSMUST00000213134
AA Change: C169G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216291
AA Change: C169G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.5514

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hinfp	A	G	9: 44,209,629 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Jrk	A	G	15: 74,579,004 (GRCm39)	Y94H	probably damaging	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Slc30a9	G	T	5: 67,473,044 (GRCm39)	E43*	probably null	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Star	T	C	8: 26,302,897 (GRCm39)	S280P	probably benign	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tbx19	C	T	1: 164,966,780 (GRCm39)	V365M	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	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
R8472:Or1e1f	UTSW	11	73,856,223 (GRCm39)	missense	possibly damaging	0.78
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'- CATACCCTATGCAGGTTGCC -3'
(R):5'- TTGAGAATGGAGGACACTATTCG -3'

Sequencing Primer
(F):5'- GTTGCCTGGCACAAATGTAC -3'
(R):5'- TCGTGCATAGGATGAAAATATCAGC -3'

Posted On

2021-07-15