Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Or52i2'

724714

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102319108-102320130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102320011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 295 (I295F)

Ref Sequence

ENSEMBL: ENSMUSP00000149041 (fasta)

Gene Model

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

AlphaFold

E9Q549

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098219
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: I295F

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

possibly damaging
Transcript: ENSMUST00000213485
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217526
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	probably damaging	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
R1950:Or52i2	UTSW	7	102,319,684 (GRCm39)	missense	probably benign	0.03
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
R9694:Or52i2	UTSW	7	102,320,011 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCACAGTGGAAGGCTTTGAG -3'
(R):5'- TACAGTCACTTCAGTCCAAGTCTC -3'

Sequencing Primer
(F):5'- CACAGTGGAAGGCTTTGAGTACATG -3'
(R):5'- TCAGTCCAAGTCTCCTAAGAAGTGG -3'

Posted On

2022-09-12