Mutagenetix > Incidental Mutation

Incidental Mutation 'R9461:Or5i1'

714851

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

Accession Numbers

Essential gene?

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

Stock #

R9461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87612880-87613830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87612883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2 (I2V)

Ref Sequence

ENSEMBL: ENSMUSP00000088211 (fasta)

Gene Model

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

AlphaFold

G3X9L8

Predicted Effect

probably benign
Transcript: ENSMUST00000090709
AA Change: I2V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: I2V

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

SMART Domains

Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816

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

probably benign
Transcript: ENSMUST00000215394

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abhd18	A	T	3: 40,859,319 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,116,736 (GRCm39)		probably null	Het
Arpp21	C	A	9: 111,965,704 (GRCm39)	R422L	probably damaging	Het
Ccdc190	G	A	1: 169,761,489 (GRCm39)	G197D	probably benign	Het
Cdc42bpa	G	T	1: 179,969,861 (GRCm39)	L1243F	probably damaging	Het
Ces2b	T	A	8: 105,564,011 (GRCm39)	F462I	probably benign	Het
Cfap45	A	G	1: 172,362,894 (GRCm39)	E295G	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col24a1	G	T	3: 145,186,879 (GRCm39)	E1227*	probably null	Het
Col5a1	A	T	2: 27,922,616 (GRCm39)	D1717V	unknown	Het
Dab2	T	C	15: 6,460,435 (GRCm39)	S448P	possibly damaging	Het
Dnajb1	T	C	8: 84,335,173 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,842,601 (GRCm39)	G1223D	probably benign	Het
Elp2	A	G	18: 24,765,869 (GRCm39)	R670G	probably damaging	Het
Eppk1	T	C	15: 75,994,668 (GRCm39)	I738V	probably benign	Het
Gas2l2	T	A	11: 83,313,031 (GRCm39)	R760S	probably damaging	Het
H1f7	C	T	15: 98,155,138 (GRCm39)	A4T	probably damaging	Het
Kif17	G	A	4: 138,005,253 (GRCm39)	V273I	probably damaging	Het
Klhdc4	T	C	8: 122,526,224 (GRCm39)	D336G	probably damaging	Het
Lmod2	A	G	6: 24,603,568 (GRCm39)	N181S	probably benign	Het
Lrp8	G	A	4: 107,700,515 (GRCm39)	G151D	possibly damaging	Het
Mb21d2	C	T	16: 28,647,261 (GRCm39)	V238M	probably damaging	Het
Mfsd4b3-ps	T	G	10: 39,823,247 (GRCm39)	I338L	probably benign	Het
Nkain2	C	T	10: 32,766,125 (GRCm39)	A112T	unknown	Het
Or14c41	T	A	7: 86,235,247 (GRCm39)	Y255N	possibly damaging	Het
Or52n2b	T	A	7: 104,565,583 (GRCm39)	I307F	probably benign	Het
Or5b12b	T	A	19: 12,861,875 (GRCm39)	V210E	possibly damaging	Het
Pacs2	A	G	12: 113,010,727 (GRCm39)	I126V	probably benign	Het
Phyhipl	T	C	10: 70,395,243 (GRCm39)	Y321C	possibly damaging	Het
Ppm1k	T	C	6: 57,487,720 (GRCm39)	S368G	probably damaging	Het
Ranbp6	T	C	19: 29,787,163 (GRCm39)	D1063G	possibly damaging	Het
Sars2	T	C	7: 28,449,438 (GRCm39)	M322T	probably benign	Het
Serbp1	G	A	6: 67,244,313 (GRCm39)	R78H	probably benign	Het
Sfxn2	T	A	19: 46,574,192 (GRCm39)	N127K	probably damaging	Het
Sgsm1	A	T	5: 113,423,898 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,108,342 (GRCm39)	Y491C	probably damaging	Het
Slc22a22	T	A	15: 57,127,052 (GRCm39)	I6F	probably damaging	Het
Smpd1	C	T	7: 105,204,789 (GRCm39)	L223F	probably damaging	Het
Spem1	T	C	11: 69,711,741 (GRCm39)	K308E	probably benign	Het
Spsb1	A	T	4: 149,990,907 (GRCm39)	C220*	probably null	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tars3	T	C	7: 65,339,719 (GRCm39)	S705P	possibly damaging	Het
Tbc1d16	G	T	11: 119,044,781 (GRCm39)	F553L	probably damaging	Het
Thbs2	A	G	17: 14,910,435 (GRCm39)	Y55H	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tut7	G	A	13: 59,963,512 (GRCm39)	T282I	probably damaging	Het
Txnl1	T	C	18: 63,810,050 (GRCm39)	N131S	probably benign	Het
Vat1	T	C	11: 101,353,846 (GRCm39)	T175A	possibly damaging	Het
Veph1	T	A	3: 66,029,066 (GRCm39)	D651V	probably benign	Het
Zfp281	T	A	1: 136,554,500 (GRCm39)	S493T	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
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
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'- TGCCAACGATCCAATGTCAG -3'
(R):5'- TACATAGGAGTTTGAAGGTGCG -3'

Sequencing Primer
(F):5'- CAAATATACAAGGCCATCTTTAGCTC -3'
(R):5'- AGGTGCGGGTCCATCCTAATTAAC -3'

Posted On

2022-06-15