Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Or1e16'

579133

Institutional Source

Beutler Lab

Gene Symbol

Or1e16

Ensembl Gene

ENSMUSG00000069823

Gene Name

olfactory receptor family 1 subfamily E member 16

Synonyms

GA_x6K02T2P1NL-3556334-3555390, MOR135-13, I54, Olfr1

MMRRC Submission

045544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73285902-73290321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73286714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 45 (I45F)

Ref Sequence

ENSEMBL: ENSMUSP00000113707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120303] [ENSMUST00000131253] [ENSMUST00000134011]

AlphaFold

Q8VGI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000120303
AA Change: I45F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113707
Gene: ENSMUSG00000069823
AA Change: I45F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	8.7e-60	PFAM
Pfam:7tm_1	41	290	2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131253
AA Change: I45F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120899
Gene: ENSMUSG00000069823
AA Change: I45F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	31	184	1.2e-6	PFAM
Pfam:7TM_GPCR_Srsx	35	171	6.1e-8	PFAM
Pfam:7tm_1	41	191	3.6e-30	PFAM
Pfam:7tm_4	139	196	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134011

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,898,622 (GRCm39)	V238E	possibly damaging	Het
Actn3	G	A	19: 4,917,842 (GRCm39)	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,319,810 (GRCm39)	T476A	probably benign	Het
Afm	T	A	5: 90,679,486 (GRCm39)	S327T	probably damaging	Het
Apol7e	T	A	15: 77,602,143 (GRCm39)	M247K	probably benign	Het
Aqp12	T	A	1: 92,936,385 (GRCm39)	L237Q	probably damaging	Het
Arhgef12	A	T	9: 42,951,848 (GRCm39)	S63T	probably damaging	Het
Axdnd1	T	A	1: 156,204,086 (GRCm39)	E393V		Het
Cacna1g	T	A	11: 94,352,765 (GRCm39)	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,036,383 (GRCm39)	V180M	possibly damaging	Het
Cd47	T	A	16: 49,704,585 (GRCm39)	I119K		Het
Cenpe	A	T	3: 134,947,916 (GRCm39)	L1158F	probably damaging	Het
Cfi	A	G	3: 129,648,736 (GRCm39)	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,423,708 (GRCm39)	Y220C	probably benign	Het
Ddhd2	A	G	8: 26,225,087 (GRCm39)	F577L	probably benign	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Disp3	A	T	4: 148,345,527 (GRCm39)	C438S	possibly damaging	Het
Dock3	A	G	9: 106,882,644 (GRCm39)	S380P	probably damaging	Het
Ehmt2	A	G	17: 35,118,372 (GRCm39)	E106G	possibly damaging	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Gm11554	A	C	11: 99,695,190 (GRCm39)	S8A	unknown	Het
Grm7	A	G	6: 111,478,476 (GRCm39)	I54V		Het
Hbs1l	T	C	10: 21,234,683 (GRCm39)	F579L	possibly damaging	Het
Hgf	C	A	5: 16,823,854 (GRCm39)	Q684K	probably benign	Het
Igsf3	T	C	3: 101,358,391 (GRCm39)	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,719,990 (GRCm39)	G304W	probably damaging	Het
Ino80c	C	T	18: 24,241,895 (GRCm39)	W163*	probably null	Het
Kcnt1	A	C	2: 25,799,845 (GRCm39)	D997A	probably damaging	Het
Klf7	C	T	1: 64,081,472 (GRCm39)		probably null	Het
Lingo1	T	C	9: 56,527,908 (GRCm39)	Y233C	probably damaging	Het
Lmo7	C	A	14: 102,138,040 (GRCm39)	T914K	possibly damaging	Het
Mark1	G	T	1: 184,660,241 (GRCm39)	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,344,231 (GRCm39)	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,529,582 (GRCm39)	I131T	probably benign	Het
Mipep	A	G	14: 61,040,344 (GRCm39)	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,053,714 (GRCm39)	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,809,456 (GRCm39)	E232G	probably benign	Het
Nat10	C	T	2: 103,565,226 (GRCm39)	A452T	probably benign	Het
Nfatc2	G	A	2: 168,365,227 (GRCm39)	Q596*	probably null	Het
Nudt13	G	T	14: 20,359,791 (GRCm39)	G173W	probably damaging	Het
Or10n1	C	A	9: 39,524,998 (GRCm39)	T45K	probably benign	Het
Or5l14	A	T	2: 87,792,793 (GRCm39)	C148S	possibly damaging	Het
Or8b4	T	A	9: 37,830,592 (GRCm39)	I213N	probably damaging	Het
Otud4	T	C	8: 80,399,989 (GRCm39)	V901A	probably benign	Het
Pah	G	A	10: 87,399,286 (GRCm39)	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 110,365,008 (GRCm39)	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,720,457 (GRCm39)	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,869,649 (GRCm39)	Y401H	probably damaging	Het
Prr14	A	G	7: 127,074,997 (GRCm39)	K466R	probably null	Het
Ralgapa2	A	G	2: 146,266,587 (GRCm39)	L663P	probably damaging	Het
Reg3d	A	T	6: 78,353,071 (GRCm39)	C171S	possibly damaging	Het
Reln	G	T	5: 22,147,739 (GRCm39)	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,629,777 (GRCm39)	I98L	probably benign	Het
Rnf216	T	C	5: 142,978,480 (GRCm39)	D886G	possibly damaging	Het
Rp1l1	A	G	14: 64,266,015 (GRCm39)	R534G	probably benign	Het
Selenon	A	C	4: 134,267,061 (GRCm39)	S514A	probably benign	Het
Sema3d	T	A	5: 12,558,152 (GRCm39)	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,670,617 (GRCm39)	I35N	probably damaging	Het
Siglec1	A	C	2: 130,917,744 (GRCm39)	H1044Q	probably benign	Het
Skint5	T	A	4: 113,614,128 (GRCm39)	I693F	unknown	Het
Skint5	G	T	4: 113,743,000 (GRCm39)	L370M	unknown	Het
Slc12a1	G	A	2: 125,059,815 (GRCm39)	W905*	probably null	Het
Slc26a9	G	C	1: 131,691,781 (GRCm39)	V675L	probably benign	Het
Slc5a7	A	T	17: 54,583,990 (GRCm39)	Y433*	probably null	Het
Slc7a4	A	G	16: 17,392,977 (GRCm39)	I274T	probably benign	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Spen	T	C	4: 141,206,605 (GRCm39)	D674G	unknown	Het
Ssh1	T	C	5: 114,080,488 (GRCm39)	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,316,580 (GRCm39)	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144 (GRCm39)	S181R	probably benign	Het
Thada	T	C	17: 84,533,469 (GRCm39)	N1661D	probably benign	Het
Tsga13	C	A	6: 30,876,981 (GRCm39)	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,870,478 (GRCm39)	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,401,971 (GRCm39)	Y220S	probably benign	Het
Unc79	C	T	12: 103,061,235 (GRCm39)	T1145I	probably damaging	Het
Unc80	T	A	1: 66,661,621 (GRCm39)	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891 (GRCm39)	S652P	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,697,310 (GRCm39)	M789K	probably damaging	Het
Wrnip1	T	A	13: 33,000,310 (GRCm39)	L439*	probably null	Het
Zfhx2	A	G	14: 55,304,207 (GRCm39)	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,439,960 (GRCm39)	T215S	probably benign	Het
Zfp64	A	T	2: 168,767,731 (GRCm39)	V627E	probably damaging	Het
Zfp873	T	C	10: 81,895,773 (GRCm39)	I168T	probably benign	Het

Other mutations in Or1e16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Or1e16	APN	11	73,286,017 (GRCm39)	missense	probably damaging	0.98
IGL01938:Or1e16	APN	11	73,286,471 (GRCm39)	missense	probably damaging	1.00
IGL02270:Or1e16	APN	11	73,286,191 (GRCm39)	missense	probably benign
IGL03287:Or1e16	APN	11	73,286,845 (GRCm39)	start codon destroyed	probably null	1.00
R0006:Or1e16	UTSW	11	73,286,314 (GRCm39)	missense	probably damaging	0.99
R0907:Or1e16	UTSW	11	73,285,945 (GRCm39)	missense	probably damaging	0.97
R1982:Or1e16	UTSW	11	73,285,918 (GRCm39)	missense	probably benign	0.00
R3804:Or1e16	UTSW	11	73,286,776 (GRCm39)	missense	probably benign	0.01
R4064:Or1e16	UTSW	11	73,286,348 (GRCm39)	missense	probably benign	0.04
R4171:Or1e16	UTSW	11	73,286,365 (GRCm39)	missense	probably damaging	1.00
R4724:Or1e16	UTSW	11	73,285,981 (GRCm39)	missense	probably damaging	1.00
R4732:Or1e16	UTSW	11	73,286,521 (GRCm39)	missense	probably benign	0.03
R4733:Or1e16	UTSW	11	73,286,521 (GRCm39)	missense	probably benign	0.03
R5030:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5097:Or1e16	UTSW	11	73,286,119 (GRCm39)	missense	probably damaging	1.00
R5098:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5101:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5135:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5137:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5192:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5193:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5193:Or1e16	UTSW	11	73,286,479 (GRCm39)	frame shift	probably null
R5197:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5220:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5221:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5222:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5258:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5297:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5396:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5398:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5399:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5432:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5433:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5531:Or1e16	UTSW	11	73,286,003 (GRCm39)	missense	probably benign	0.26
R5634:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5714:Or1e16	UTSW	11	73,286,187 (GRCm39)	splice site	probably null
R5812:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5813:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5814:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5815:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5913:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5955:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5956:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R5968:Or1e16	UTSW	11	73,286,018 (GRCm39)	missense	possibly damaging	0.75
R6029:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6034:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6034:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6176:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6177:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6178:Or1e16	UTSW	11	73,286,480 (GRCm39)	frame shift	probably null
R6196:Or1e16	UTSW	11	73,286,299 (GRCm39)	missense	probably benign	0.08
R6995:Or1e16	UTSW	11	73,286,410 (GRCm39)	missense	probably benign
R7035:Or1e16	UTSW	11	73,286,544 (GRCm39)	missense	probably benign	0.00
R7530:Or1e16	UTSW	11	73,279,189 (GRCm39)	missense	possibly damaging	0.55
R8461:Or1e16	UTSW	11	73,285,982 (GRCm39)	missense	probably damaging	1.00
R9149:Or1e16	UTSW	11	73,286,853 (GRCm39)	unclassified	probably benign
R9279:Or1e16	UTSW	11	73,279,789 (GRCm39)	missense	probably benign	0.05
R9293:Or1e16	UTSW	11	73,285,955 (GRCm39)	missense	probably damaging	0.99
R9682:Or1e16	UTSW	11	73,286,025 (GRCm39)	missense	probably benign	0.03
R9752:Or1e16	UTSW	11	73,286,479 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AAGTATATTTGTGCCAGGCAACC -3'
(R):5'- GAACTGGTATTGTTGACCACATAAC -3'

Sequencing Primer
(F):5'- CCTGCATAGGGAATCGATGG -3'
(R):5'- GGTATTGTTGACCACATAACAGATG -3'

Posted On

2019-10-07