Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Or52i2'

217201

Institutional Source

Beutler Lab

Gene Symbol

Or52i2

Ensembl Gene

ENSMUSG00000073969

Gene Name

olfactory receptor family 52 subfamily J member 2

Synonyms

GA_x6K02T2PBJ9-5386601-5387575, MOR41-1, Olfr556

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102319108-102320130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102319684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 186 (M186V)

Ref Sequence

ENSEMBL: ENSMUSP00000150289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]

AlphaFold

E9Q549

Predicted Effect

probably benign
Transcript: ENSMUST00000098219
AA Change: M186V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: M186V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1.2e-85	PFAM
Pfam:7TM_GPCR_Srsx	39	192	1.5e-13	PFAM
Pfam:7tm_1	45	297	3.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213485
AA Change: M186V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000217526
AA Change: M186V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Ccdc73	T	C	2: 104,757,280 (GRCm39)	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Gzma	A	G	13: 113,230,463 (GRCm39)	L246P	probably damaging	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,273,726 (GRCm39)	V368A	probably benign	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scly	A	G	1: 91,233,116 (GRCm39)	T76A	probably benign	Het
Scube3	T	C	17: 28,383,274 (GRCm39)	S439P	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	Het

Other mutations in Or52i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or52i2	APN	7	102,319,858 (GRCm39)	missense	probably damaging	1.00
IGL01662:Or52i2	APN	7	102,319,927 (GRCm39)	missense	probably damaging	1.00
IGL02989:Or52i2	APN	7	102,319,651 (GRCm39)	missense	possibly damaging	0.50
R0194:Or52i2	UTSW	7	102,319,406 (GRCm39)	missense	probably benign	0.01
R1670:Or52i2	UTSW	7	102,319,609 (GRCm39)	missense	possibly damaging	0.72
R1680:Or52i2	UTSW	7	102,319,940 (GRCm39)	missense	possibly damaging	0.82
R1711:Or52i2	UTSW	7	102,319,369 (GRCm39)	missense	probably damaging	0.98
R1768:Or52i2	UTSW	7	102,319,508 (GRCm39)	missense	probably damaging	1.00
R4452:Or52i2	UTSW	7	102,319,256 (GRCm39)	missense	probably benign	0.00
R5564:Or52i2	UTSW	7	102,319,433 (GRCm39)	missense	probably damaging	1.00
R6623:Or52i2	UTSW	7	102,319,241 (GRCm39)	missense	possibly damaging	0.90
R7040:Or52i2	UTSW	7	102,319,937 (GRCm39)	missense	probably benign	0.00
R7244:Or52i2	UTSW	7	102,319,046 (GRCm39)	start gained	probably benign
R7300:Or52i2	UTSW	7	102,319,417 (GRCm39)	missense	probably benign	0.01
R8499:Or52i2	UTSW	7	102,320,012 (GRCm39)	missense	probably damaging	0.97
R9620:Or52i2	UTSW	7	102,320,011 (GRCm39)	missense	possibly damaging	0.95
R9694:Or52i2	UTSW	7	102,320,011 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTGGAGACAGGTCTGCTAC -3'
(R):5'- GAGAGCCACATGTACTCAAAGC -3'

Sequencing Primer
(F):5'- ACAGGTCTGCTACTGGCCATG -3'
(R):5'- ATGTACTCAAAGCCTTCCACTGTG -3'

Posted On

2014-08-01