Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Or5i1'

176772

Institutional Source

Beutler Lab

Gene Symbol

Or5i1

Ensembl Gene

ENSMUSG00000068816

Gene Name

olfactory receptor family 5 subfamily I member 1

Synonyms

GA_x6K02T2Q125-49283184-49284128, Olfr152, Olfr4-1, V1, MOR181-1

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87612880-87613830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87612968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 28 (I28N)

Ref Sequence

ENSEMBL: ENSMUSP00000150778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090709] [ENSMUST00000105210] [ENSMUST00000215394]

AlphaFold

G3X9L8

Predicted Effect

probably benign
Transcript: ENSMUST00000090709
AA Change: I30N

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: I30N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	4.3e-49	PFAM
Pfam:7tm_1	45	314	7.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105210
AA Change: I28N

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: I28N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	43	292	6.4e-28	PFAM
Pfam:7tm_4	141	285	1.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213624

Predicted Effect

probably benign
Transcript: ENSMUST00000215394
AA Change: I28N

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Or5i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Or5i1	APN	2	87,612,883 (GRCm39)	missense	probably benign
IGL01124:Or5i1	APN	2	87,613,720 (GRCm39)	missense	probably benign	0.01
IGL01383:Or5i1	APN	2	87,613,217 (GRCm39)	missense	possibly damaging	0.92
IGL01501:Or5i1	APN	2	87,613,480 (GRCm39)	missense	possibly damaging	0.85
IGL02279:Or5i1	APN	2	87,613,576 (GRCm39)	missense	probably damaging	0.99
R0141:Or5i1	UTSW	2	87,613,049 (GRCm39)	missense	possibly damaging	0.74
R0212:Or5i1	UTSW	2	87,613,826 (GRCm39)	missense	unknown
R0492:Or5i1	UTSW	2	87,613,166 (GRCm39)	missense	probably damaging	1.00
R1697:Or5i1	UTSW	2	87,612,929 (GRCm39)	missense	possibly damaging	0.95
R3606:Or5i1	UTSW	2	87,613,551 (GRCm39)	missense	probably benign	0.26
R4583:Or5i1	UTSW	2	87,613,565 (GRCm39)	missense	possibly damaging	0.76
R4646:Or5i1	UTSW	2	87,613,565 (GRCm39)	missense	possibly damaging	0.76
R4648:Or5i1	UTSW	2	87,613,565 (GRCm39)	missense	possibly damaging	0.76
R4853:Or5i1	UTSW	2	87,613,526 (GRCm39)	missense	probably benign	0.04
R6102:Or5i1	UTSW	2	87,613,192 (GRCm39)	missense	probably damaging	1.00
R6154:Or5i1	UTSW	2	87,613,100 (GRCm39)	missense	possibly damaging	0.94
R7637:Or5i1	UTSW	2	87,613,778 (GRCm39)	missense	probably damaging	1.00
R8306:Or5i1	UTSW	2	87,613,830 (GRCm39)	makesense	probably null
R9294:Or5i1	UTSW	2	87,612,867 (GRCm39)	critical splice acceptor site	probably null
R9461:Or5i1	UTSW	2	87,612,883 (GRCm39)	missense	probably benign
Z1088:Or5i1	UTSW	2	87,612,972 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5i1	UTSW	2	87,613,368 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCATCTTTAGCTCTTGGCATC -3'
(R):5'- AACCATATGCAGAGGCTCCTGGAC -3'

Sequencing Primer
(F):5'- TCTTGGCATCCACAAAAATCTG -3'
(R):5'- CCTGGACATTGCAACTGTG -3'

Posted On

2014-04-24