Mutagenetix > Incidental Mutation

Incidental Mutation 'R8104:Or1i2'

630652

Institutional Source

Beutler Lab

Gene Symbol

Or1i2

Ensembl Gene

ENSMUSG00000071185

Gene Name

olfactory receptor family 1 subfamily I member 1

Synonyms

GA_x6K02T2QGN0-3196801-3197742, MOR128-3, MOR128-4, Olfr1357

MMRRC Submission

067535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78447503-78453908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78448242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 78 (V78I)

Ref Sequence

ENSEMBL: ENSMUSP00000093127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095473] [ENSMUST00000203305] [ENSMUST00000205085] [ENSMUST00000213877]

AlphaFold

Q7TQU7

Predicted Effect

probably benign
Transcript: ENSMUST00000095473
AA Change: V78I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: V78I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.7e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	215	2e-11	PFAM
Pfam:7tm_1	41	290	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203305
AA Change: V78I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: V78I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	235	1.3e-36	PFAM
Pfam:7TM_GPCR_Srsx	35	215	7.7e-11	PFAM
Pfam:7tm_1	41	234	3.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205085
AA Change: V78I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: V78I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.7e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	215	2e-11	PFAM
Pfam:7tm_1	41	290	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213877
AA Change: V78I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.6%
20x: 94.6%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	C	A	17: 57,152,443 (GRCm39)	L666F	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Apoc3	T	G	9: 46,144,585 (GRCm39)	D79A	probably damaging	Het
Arfgap1	T	A	2: 180,621,022 (GRCm39)		probably null	Het
Ascc1	T	C	10: 59,843,551 (GRCm39)	S38P	probably benign	Het
Asl	C	T	5: 130,040,791 (GRCm39)	E389K	probably benign	Het
Atat1	A	T	17: 36,215,008 (GRCm39)	I215K	probably benign	Het
Bod1l	A	T	5: 41,991,075 (GRCm39)	L160*	probably null	Het
Cbl	C	A	9: 44,069,836 (GRCm39)	S637I	possibly damaging	Het
Ccdc112	A	C	18: 46,420,720 (GRCm39)	S343R	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Cspg4b	T	A	13: 113,456,263 (GRCm39)	F770I		Het
Dlgap3	A	G	4: 127,129,947 (GRCm39)	E907G	probably damaging	Het
Dsp	A	T	13: 38,352,600 (GRCm39)	E159D	probably benign	Het
Ech1	G	A	7: 28,524,728 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,971,485 (GRCm39)	N710K	possibly damaging	Het
Fbxw28	A	T	9: 109,155,357 (GRCm39)		probably null	Het
Gm4871	G	C	5: 144,969,012 (GRCm39)	D100E	probably damaging	Het
Got1l1	A	G	8: 27,687,619 (GRCm39)	I388T	probably damaging	Het
Ing5	T	A	1: 93,744,166 (GRCm39)	N184K	probably damaging	Het
Izumo3	A	T	4: 92,035,145 (GRCm39)	L24*	probably null	Het
Lig1	T	C	7: 13,020,491 (GRCm39)	V99A	possibly damaging	Het
Mbtps1	A	G	8: 120,255,794 (GRCm39)	Y488H	possibly damaging	Het
Muc5ac	A	G	7: 141,358,520 (GRCm39)	Y1240C	possibly damaging	Het
Nav3	T	C	10: 109,594,828 (GRCm39)	T1458A	probably damaging	Het
Nedd1	T	C	10: 92,527,778 (GRCm39)	E472G	probably damaging	Het
Nod2	A	T	8: 89,391,685 (GRCm39)	H664L	possibly damaging	Het
Ntrk3	A	G	7: 78,227,450 (GRCm39)	S28P	probably damaging	Het
Or14a257	A	G	7: 86,138,231 (GRCm39)	F176S	probably damaging	Het
Or2ag17	T	A	7: 106,390,338 (GRCm39)		probably benign	Het
Or2ag17	C	A	7: 106,390,337 (GRCm39)		probably benign	Het
Or6c66b	T	A	10: 129,376,826 (GRCm39)	M140K	probably benign	Het
Pcdha4	G	T	18: 37,087,106 (GRCm39)	G430W	probably damaging	Het
Pcnx1	T	A	12: 82,030,385 (GRCm39)	Y1114*	probably null	Het
Pde6a	T	A	18: 61,364,566 (GRCm39)	D207E	probably damaging	Het
Plekhg1	T	A	10: 3,902,326 (GRCm39)	I540N		Het
Pnp2	A	T	14: 51,197,099 (GRCm39)	I62F	probably benign	Het
Rarg	C	A	15: 102,148,334 (GRCm39)	D258Y	probably damaging	Het
Rnps1	T	A	17: 24,643,484 (GRCm39)	M262K	unknown	Het
Scaf11	T	C	15: 96,316,483 (GRCm39)	D1027G	probably benign	Het
Serpina3a	A	T	12: 104,079,110 (GRCm39)		probably benign	Het
Slc25a1	A	G	16: 17,744,297 (GRCm39)		probably null	Het
Slc44a3	A	C	3: 121,291,521 (GRCm39)	V365G	probably benign	Het
Slc45a3	T	C	1: 131,904,754 (GRCm39)	F26L	probably benign	Het
Slc9a2	T	A	1: 40,757,809 (GRCm39)	I116K	probably damaging	Het
Stk36	T	A	1: 74,665,756 (GRCm39)	S700T	probably benign	Het
Tekt3	A	G	11: 62,968,945 (GRCm39)	D224G	probably benign	Het
Tgtp1	A	T	11: 48,877,841 (GRCm39)	I288N	probably damaging	Het
Ttn	C	T	2: 76,710,567 (GRCm39)	V8485M	unknown	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Uso1	T	A	5: 92,306,280 (GRCm39)	I79K	probably damaging	Het
Utp20	C	T	10: 88,593,766 (GRCm39)	D2215N	probably damaging	Het
Wdr43	C	T	17: 71,923,350 (GRCm39)	A32V	probably benign	Het
Zfp704	T	C	3: 9,630,301 (GRCm39)	D170G	probably benign	Het

Other mutations in Or1i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Or1i2	APN	10	78,447,960 (GRCm39)	missense	probably benign	0.02
IGL02201:Or1i2	APN	10	78,448,104 (GRCm39)	missense	probably damaging	0.96
IGL03029:Or1i2	APN	10	78,447,792 (GRCm39)	missense	probably benign	0.14
IGL03094:Or1i2	APN	10	78,447,953 (GRCm39)	missense	possibly damaging	0.80
R0207:Or1i2	UTSW	10	78,447,705 (GRCm39)	missense	probably benign
R0563:Or1i2	UTSW	10	78,448,467 (GRCm39)	missense	probably benign
R0745:Or1i2	UTSW	10	78,447,956 (GRCm39)	missense	probably benign	0.02
R1607:Or1i2	UTSW	10	78,447,974 (GRCm39)	missense	probably benign	0.08
R2419:Or1i2	UTSW	10	78,448,221 (GRCm39)	missense	probably benign	0.34
R4198:Or1i2	UTSW	10	78,447,901 (GRCm39)	missense	possibly damaging	0.69
R4199:Or1i2	UTSW	10	78,447,901 (GRCm39)	missense	possibly damaging	0.69
R4200:Or1i2	UTSW	10	78,447,901 (GRCm39)	missense	possibly damaging	0.69
R4619:Or1i2	UTSW	10	78,448,409 (GRCm39)	missense	probably benign
R6152:Or1i2	UTSW	10	78,448,409 (GRCm39)	missense	probably benign
R6836:Or1i2	UTSW	10	78,448,424 (GRCm39)	missense	probably damaging	1.00
R6843:Or1i2	UTSW	10	78,447,891 (GRCm39)	missense	probably damaging	1.00
R7266:Or1i2	UTSW	10	78,448,448 (GRCm39)	missense	probably benign	0.07
R8765:Or1i2	UTSW	10	78,448,429 (GRCm39)	missense	probably benign	0.01
R8795:Or1i2	UTSW	10	78,447,698 (GRCm39)	missense	probably damaging	1.00
R8806:Or1i2	UTSW	10	78,447,974 (GRCm39)	missense	probably benign	0.08
R8842:Or1i2	UTSW	10	78,447,635 (GRCm39)	missense	possibly damaging	0.95
R9640:Or1i2	UTSW	10	78,448,311 (GRCm39)	missense	probably damaging	1.00
R9678:Or1i2	UTSW	10	78,447,717 (GRCm39)	missense	probably damaging	1.00
Z1176:Or1i2	UTSW	10	78,447,890 (GRCm39)	missense	probably damaging	1.00
Z1177:Or1i2	UTSW	10	78,447,985 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGTAGTGCGCAGACATGTGG -3'
(R):5'- CAGTCTTGGAATTCCATCTCATG -3'

Sequencing Primer
(F):5'- CAGACATGTGGGCTCATGAG -3'
(R):5'- ATCTCATGGGACTCTCAGAGGATC -3'

Posted On

2020-06-30