Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Or1i2'

672075

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

068612-MU

Accession Numbers

Essential gene?

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

Stock #

R8806 (G1)

Quality Score

225.009

Status

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	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
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
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'- CCTGAAAACTGCCCTGAAAATG -3'
(R):5'- CACAGGCTGTCTTGTCCAAATG -3'

Sequencing Primer
(F):5'- TGCCCTGAAAATGCAGATGTAG -3'
(R):5'- ACCTCTTTGGGACTATAGACAGC -3'

Posted On

2021-04-30