Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Olfr1216'

210237

Institutional Source

Beutler Lab

Gene Symbol

Olfr1216

Ensembl Gene

ENSMUSG00000075107

Gene Name

olfactory receptor 1216

Synonyms

GA_x6K02T2Q125-50494588-50493653, MOR233-9

MMRRC Submission

039929-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89007563-89018340 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89013221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 281 (L281P)

Ref Sequence

ENSEMBL: ENSMUSP00000149441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]

AlphaFold

Q7TR05

Predicted Effect

probably damaging
Transcript: ENSMUST00000099800
AA Change: L281P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: L281P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.8e-46	PFAM
Pfam:7tm_1	39	286	4.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216000
AA Change: L281P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217000
AA Change: L281P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218738

Meta Mutation Damage Score

0.3971

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
4930590J08Rik	T	A	6: 91,950,069		probably benign	Het
5430419D17Rik	T	C	7: 131,238,089	V580A	probably damaging	Het
Abca7	T	C	10: 80,006,634	V1134A	probably benign	Het
Acaa2	A	G	18: 74,792,412	E82G	probably benign	Het
Acap1	T	C	11: 69,881,722	D521G	probably damaging	Het
Adam19	T	C	11: 46,121,454	V259A	probably damaging	Het
Adssl1	T	C	12: 112,633,009	V140A	probably benign	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,921,187	D159A	probably damaging	Het
Ank1	T	C	8: 23,099,650	V589A	probably damaging	Het
Ano2	G	A	6: 126,013,691	D803N	probably benign	Het
Arid1b	A	G	17: 5,342,966	E2257G	probably damaging	Het
Asb17	T	C	3: 153,844,501	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335	E646G	probably damaging	Het
Aspm	T	A	1: 139,478,094	I1573K	probably benign	Het
Bcas1	C	A	2: 170,387,943	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,171,797	G9*	probably null	Het
Btaf1	A	G	19: 36,986,630	Q867R	probably benign	Het
C87499	T	C	4: 88,630,072	Q32R	possibly damaging	Het
Calhm3	C	T	19: 47,155,469	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,694,677	I401F	possibly damaging	Het
Cecr2	T	A	6: 120,762,565		probably benign	Het
Cep104	G	A	4: 154,006,798	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,770,806	M1900L	probably benign	Het
Crybg1	A	G	10: 43,997,677	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,308,974	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,889,086	L798P	probably damaging	Het
Dmxl1	T	C	18: 49,878,163	I1129T	probably benign	Het
Dnah2	T	C	11: 69,515,752	N555D	possibly damaging	Het
Dock1	T	A	7: 134,999,300	M988K	probably damaging	Het
Elp4	T	A	2: 105,702,743	H419L	probably damaging	Het
Endov	T	C	11: 119,502,351	V109A	possibly damaging	Het
Epha8	T	C	4: 136,936,314	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,049,122	M188T	probably damaging	Het
Fam160a1	T	A	3: 85,661,218	D998V	probably benign	Het
Fhod3	A	T	18: 25,112,586	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,765,712	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Grk1	C	A	8: 13,407,923	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,827,772	A269V	probably benign	Het
Krt33a	T	A	11: 100,012,349	Q289L	probably benign	Het
Krt76	T	A	15: 101,888,165	K403*	probably null	Het
Lcn4	T	C	2: 26,670,595		probably benign	Het
Mab21l1	T	C	3: 55,783,627	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 24,904,051	D610E	probably benign	Het
Mastl	G	T	2: 23,132,680	S677*	probably null	Het
Mfap3	T	C	11: 57,529,736	F181S	probably damaging	Het
Mlkl	T	C	8: 111,312,100		probably benign	Het
Mov10	G	A	3: 104,801,560		probably benign	Het
Muc5ac	T	C	7: 141,796,304	F595L	probably benign	Het
Nbas	T	A	12: 13,566,144	C2228S	probably benign	Het
Nit2	G	A	16: 57,161,683		probably benign	Het
Nod1	C	T	6: 54,944,440	V298M	probably damaging	Het
Olfr399	C	A	11: 74,054,384	R125L	probably damaging	Het
Olfr690	T	A	7: 105,329,383	I270F	probably benign	Het
Olfr800	A	T	10: 129,660,112	D102V	probably benign	Het
Olfr834	T	C	9: 18,988,900	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,689,925	R864L	probably benign	Het
Pcnt	G	A	10: 76,368,816	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,934,749		probably benign	Het
Pou6f2	T	C	13: 18,151,963	I341V	probably damaging	Het
Prune2	T	A	19: 17,113,674	F281I	probably benign	Het
Psg19	T	G	7: 18,794,268	Q183H	probably damaging	Het
Psme4	T	G	11: 30,815,658	S587A	probably benign	Het
Ptpro	T	C	6: 137,400,619		probably benign	Het
Rasgrp4	T	C	7: 29,138,877	V92A	probably damaging	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rexo5	C	T	7: 119,799,644	A68V	probably damaging	Het
Robo2	A	T	16: 73,958,325	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,198,798	V278I	probably benign	Het
Sidt1	A	G	16: 44,281,871	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,621,882	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,553,723	R690H	probably damaging	Het
Snx7	A	T	3: 117,829,668		probably null	Het
Spag6	T	A	2: 18,715,805	Y129*	probably null	Het
Srcap	T	C	7: 127,534,822	I905T	probably damaging	Het
St6gal1	T	G	16: 23,321,633	S185A	probably damaging	Het
Sult6b1	G	A	17: 78,888,964	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,627,088	N1023T	probably benign	Het
Tecta	C	T	9: 42,337,936	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tex14	T	A	11: 87,495,035	D240E	probably damaging	Het
Tex47	T	C	5: 7,305,022	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,689,842	V165A	probably benign	Het
Tmem126b	T	A	7: 90,469,159	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,373,400	M46I	probably benign	Het
Trmt2a	A	G	16: 18,251,206	K304R	probably benign	Het
Ttc28	G	T	5: 111,280,750	R1845L	possibly damaging	Het
Umodl1	A	T	17: 30,992,154	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,811,793	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,418,214	S627P	probably damaging	Het
Vrk1	T	C	12: 106,057,977		probably null	Het
Zfp644	A	G	5: 106,635,271	M1079T	possibly damaging	Het
Znrf1	T	C	8: 111,621,601	*41Q	probably null	Het
Znrf1	T	C	8: 111,621,612	F183L	possibly damaging	Het

Other mutations in Olfr1216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Olfr1216	APN	2	89013924	missense	probably benign	0.22
IGL00895:Olfr1216	APN	2	89013609	missense	probably benign	0.13
IGL01634:Olfr1216	APN	2	89013444	missense	probably damaging	0.99
IGL01844:Olfr1216	APN	2	89013470	missense	possibly damaging	0.95
IGL02036:Olfr1216	APN	2	89013479	missense	probably benign	0.00
IGL02102:Olfr1216	APN	2	89013126	utr 3 prime	probably benign
IGL02194:Olfr1216	APN	2	89013887	missense	probably damaging	1.00
IGL02483:Olfr1216	APN	2	89013203	missense	probably damaging	1.00
IGL02745:Olfr1216	APN	2	89013888	missense	probably damaging	1.00
IGL02829:Olfr1216	APN	2	89013677	missense	probably damaging	1.00
IGL03113:Olfr1216	APN	2	89014035	missense	probably damaging	1.00
IGL03324:Olfr1216	APN	2	89013559	nonsense	probably null
R0102:Olfr1216	UTSW	2	89013671	missense	probably damaging	1.00
R0304:Olfr1216	UTSW	2	89013288	missense	probably damaging	1.00
R1184:Olfr1216	UTSW	2	89013713	missense	probably damaging	0.99
R1484:Olfr1216	UTSW	2	89013369	nonsense	probably null
R1560:Olfr1216	UTSW	2	89013206	missense	probably damaging	1.00
R1823:Olfr1216	UTSW	2	89013378	missense	probably benign	0.02
R2245:Olfr1216	UTSW	2	89013149	missense	probably benign
R2331:Olfr1216	UTSW	2	89013921	missense	probably benign
R3859:Olfr1216	UTSW	2	89014061	start codon destroyed	probably null	1.00
R4579:Olfr1216	UTSW	2	89013144	missense	probably benign
R5022:Olfr1216	UTSW	2	89014043	missense	probably damaging	0.96
R5353:Olfr1216	UTSW	2	89013755	missense	probably benign	0.00
R5894:Olfr1216	UTSW	2	89014055	missense	probably damaging	1.00
R6240:Olfr1216	UTSW	2	89013626	missense	probably benign	0.03
R7101:Olfr1216	UTSW	2	89013980	missense	possibly damaging	0.90
R7652:Olfr1216	UTSW	2	89013549	missense	probably benign	0.01
R8243:Olfr1216	UTSW	2	89013707	missense	probably benign	0.39
R8752:Olfr1216	UTSW	2	89013887	missense	probably damaging	1.00
R9062:Olfr1216	UTSW	2	89013204	missense	probably damaging	1.00
R9472:Olfr1216	UTSW	2	89013173	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TCCAATAGAGCAAAGTGAGCTTTC -3'
(R):5'- TCTGAGAGCCCACAGTTCTG -3'

Sequencing Primer
(F):5'- CCTAGCAAGTATCTTTATCCAT -3'
(R):5'- GAGCCCACAGTTCTGAAGGAC -3'

Posted On

2014-06-30