Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Or5i1'

350461

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

041909-MU

Accession Numbers

Essential gene?

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

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87612880-87613830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87613565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 227 (V227A)

Ref Sequence

ENSEMBL: ENSMUSP00000150778 (fasta)

Gene Model

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

AlphaFold

G3X9L8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090709
AA Change: V229A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: V229A

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

possibly damaging
Transcript: ENSMUST00000105210
AA Change: V227A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: V227A

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

possibly damaging
Transcript: ENSMUST00000215394
AA Change: V227A

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	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
R1611:Or5i1	UTSW	2	87,612,968 (GRCm39)	missense	probably benign	0.38
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
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'- CATGAGTTCTTTGGTTCACACATC -3'
(R):5'- CAATGGGTTTAGCACTGGGATG -3'

Sequencing Primer
(F):5'- GAGTTCTTTGGTTCACACATCTTTTG -3'
(R):5'- TTAGCACTGGGATGATAATAGTGTAG -3'

Posted On

2015-10-08