Mutagenetix > Incidental Mutation

Incidental Mutation 'R1607:Or1i2'

176560

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

039644-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78447503-78453908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78447974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 167 (T167N)

Ref Sequence

ENSEMBL: ENSMUSP00000150167 (fasta)

Gene Model

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

AlphaFold

Q7TQU7

Predicted Effect

probably benign
Transcript: ENSMUST00000095473
AA Change: T167N

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: T167N

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: T167N

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: T167N

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: T167N

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: T167N

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: T167N

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,850,514 (GRCm39)	P789S	probably damaging	Het
Adam17	T	A	12: 21,384,139 (GRCm39)		probably null	Het
Afdn	C	T	17: 14,030,763 (GRCm39)	R224W	probably damaging	Het
Als2	A	G	1: 59,219,306 (GRCm39)	Y1215H	probably damaging	Het
Anks1b	A	T	10: 89,878,410 (GRCm39)	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,748,781 (GRCm39)	F259S	probably damaging	Het
Cenpv	A	T	11: 62,416,002 (GRCm39)	M249K	probably benign	Het
Ces1d	C	T	8: 93,912,746 (GRCm39)	V231I	probably benign	Het
Clasp1	G	A	1: 118,432,689 (GRCm39)	V460I	probably damaging	Het
Cnot10	A	T	9: 114,458,163 (GRCm39)	Y114*	probably null	Het
Cpb1	G	T	3: 20,317,946 (GRCm39)	R193S	probably benign	Het
Ctc1	T	C	11: 68,926,976 (GRCm39)	S1207P	possibly damaging	Het
Cttnbp2	T	A	6: 18,435,432 (GRCm39)	K142M	probably damaging	Het
Dhrs7b	T	G	11: 60,742,717 (GRCm39)	D136E	probably benign	Het
Dnah7b	T	C	1: 46,329,806 (GRCm39)	S3217P	probably damaging	Het
Eif4g3	C	T	4: 137,853,874 (GRCm39)	S480L	probably benign	Het
Enah	A	T	1: 181,744,762 (GRCm39)		probably null	Het
Epx	T	C	11: 87,759,538 (GRCm39)	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,867,490 (GRCm39)	D43V	probably damaging	Het
Gdf9	A	T	11: 53,328,338 (GRCm39)	E431D	possibly damaging	Het
Ghr	T	C	15: 3,350,056 (GRCm39)	D374G	probably damaging	Het
Gin1	A	T	1: 97,713,875 (GRCm39)	I392F	probably damaging	Het
Greb1l	A	G	18: 10,529,703 (GRCm39)	E786G	possibly damaging	Het
Grk4	T	C	5: 34,888,882 (GRCm39)	V342A	probably benign	Het
Hhipl2	A	T	1: 183,204,432 (GRCm39)	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,276,706 (GRCm39)	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,225,733 (GRCm39)	D163H	probably benign	Het
Kif11	A	T	19: 37,375,648 (GRCm39)	K190*	probably null	Het
Ldb2	T	G	5: 44,630,814 (GRCm39)	E309A	probably damaging	Het
Lipo4	T	G	19: 33,490,073 (GRCm39)	D143A	probably damaging	Het
Map3k6	T	G	4: 132,979,784 (GRCm39)	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,468,446 (GRCm39)	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,228,107 (GRCm39)	V60I	probably benign	Het
Nup133	A	G	8: 124,675,774 (GRCm39)	F48L	probably benign	Het
Or2w4	A	C	13: 21,795,934 (GRCm39)	F68L	probably benign	Het
Or5w11	T	A	2: 87,459,321 (GRCm39)	N171K	probably benign	Het
Pcdhb21	A	T	18: 37,648,532 (GRCm39)	N554Y	probably damaging	Het
Pcx	A	T	19: 4,653,187 (GRCm39)	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,285,937 (GRCm39)	S203P	probably damaging	Het
Pdlim3	A	T	8: 46,349,896 (GRCm39)	I69F	probably damaging	Het
Pkp4	T	C	2: 59,152,898 (GRCm39)	V598A	probably benign	Het
Plbd1	T	C	6: 136,589,304 (GRCm39)	I509V	probably benign	Het
Polr3b	C	A	10: 84,488,647 (GRCm39)	T319N	probably benign	Het
Ptprj	T	C	2: 90,293,664 (GRCm39)	D380G	probably benign	Het
Ralgapa1	T	G	12: 55,788,321 (GRCm39)	R587S	probably damaging	Het
Scn5a	C	A	9: 119,315,158 (GRCm39)	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,947,042 (GRCm39)	T1132K	probably benign	Het
Stard7	T	A	2: 127,137,406 (GRCm39)	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,449,351 (GRCm39)	R439W	probably damaging	Het
Tecrl	T	C	5: 83,428,355 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,062,020 (GRCm39)	L2570Q	probably null	Het
Tex14	A	T	11: 87,445,754 (GRCm39)	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,113,049 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,328,196 (GRCm39)	K408R	probably benign	Het
Tube1	A	G	10: 39,020,762 (GRCm39)	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,215,253 (GRCm39)	H412R	possibly damaging	Het
Wtip	T	C	7: 33,816,020 (GRCm39)	E352G	probably damaging	Het
Xirp2	T	A	2: 67,340,639 (GRCm39)	L960*	probably null	Het
Zc3h11a	A	C	1: 133,552,425 (GRCm39)	S561A	probably benign	Het
Zfhx2	A	T	14: 55,300,442 (GRCm39)	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,238,881 (GRCm39)	H88R	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
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
R8104:Or1i2	UTSW	10	78,448,242 (GRCm39)	missense	probably benign	0.29
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'- CGTAGAACAGTGACACCACAGTGAG -3'
(R):5'- ACAGCTTCCTTCTGGCAGTGATG -3'

Sequencing Primer
(F):5'- ACTTGCCCTGAGCAGAAG -3'
(R):5'- GGCCATTGACAGGCTGG -3'

Posted On

2014-04-24