Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Or1i2'

564944

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

045389-MU

Accession Numbers

Essential gene?

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

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78447503-78453908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78448448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 9 (V9A)

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: V9A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: V9A

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: V9A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: V9A

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: V9A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: V9A

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: V9A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	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
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'- ATCTTGGGAACAGTAGTGGAGC -3'
(R):5'- CTTGGAGAACATGAAAACCACTG -3'

Sequencing Primer
(F):5'- TTTCCGAAGACAGTGACC -3'
(R):5'- CATGAAAACCACTGGAGATAGC -3'

Posted On

2019-06-26