Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:Or52z12'

80004

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52z12

Ensembl Gene

ENSMUSG00000073946

Gene Name

olfactory receptor family 52 subfamily Z member 12

Synonyms

GA_x6K02T2PBJ9-6306819-6307775, Olfr617, MOR31-10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

103233231-103234187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103233324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 32 (W32R)

Ref Sequence

ENSEMBL: ENSMUSP00000149045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048265] [ENSMUST00000215755] [ENSMUST00000216516]

AlphaFold

Q8VGA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048265
AA Change: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: W32R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	316	8.5e-109	PFAM
Pfam:7TM_GPCR_Srsx	41	225	2.3e-10	PFAM
Pfam:7tm_1	47	299	4.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179692

Predicted Effect

probably damaging
Transcript: ENSMUST00000215755
AA Change: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216516
AA Change: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,888,629 (GRCm39)	E36K	possibly damaging	Het
Alox8	A	T	11: 69,079,516 (GRCm39)	S257R	probably benign	Het
Apc2	T	C	10: 80,150,912 (GRCm39)	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,298,192 (GRCm39)	N291S	probably benign	Het
AW551984	A	T	9: 39,505,087 (GRCm39)	D468E	possibly damaging	Het
B3gnt6	A	C	7: 97,843,730 (GRCm39)	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,766,403 (GRCm39)	M1L	probably benign	Het
Calm3	T	C	7: 16,651,409 (GRCm39)	T63A	probably benign	Het
Ccdc33	G	A	9: 58,024,919 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,273,192 (GRCm39)	E15G	probably damaging	Het
Chil6	A	G	3: 106,296,141 (GRCm39)	W365R	probably damaging	Het
Ckap5	G	T	2: 91,431,356 (GRCm39)	R1525L	probably benign	Het
Col6a6	T	A	9: 105,663,157 (GRCm39)	K127*	probably null	Het
Dclre1b	A	G	3: 103,710,639 (GRCm39)	V298A	probably damaging	Het
Fat1	T	A	8: 45,479,837 (GRCm39)	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483 (GRCm38)	D126G	probably benign	Het
Gpc1	T	C	1: 92,784,736 (GRCm39)	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,324,881 (GRCm39)	V698D	probably damaging	Het
Itpr2	C	T	6: 146,277,560 (GRCm39)		probably null	Het
Klhl4	A	T	X: 113,432,091 (GRCm39)	D168V	probably damaging	Het
Krt42	A	G	11: 100,154,167 (GRCm39)	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,417,634 (GRCm39)	C85*	probably null	Het
Lrp2	A	G	2: 69,312,611 (GRCm39)	L2559P	probably damaging	Het
Maob	T	G	X: 16,578,808 (GRCm39)	R448S	possibly damaging	Het
Mast3	A	G	8: 71,232,227 (GRCm39)	V1250A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,846,723 (GRCm39)	V286M	probably damaging	Het
Mlip	A	G	9: 77,146,699 (GRCm39)	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,073,297 (GRCm39)	V248A	probably damaging	Het
Nxf2	T	A	X: 133,852,861 (GRCm39)	R367S	probably benign	Het
Or10j3b	T	G	1: 173,043,695 (GRCm39)	V159G	probably benign	Het
Parva	T	C	7: 112,176,217 (GRCm39)		probably benign	Het
Pot1a	A	T	6: 25,750,143 (GRCm39)		probably benign	Het
Ptpra	T	C	2: 130,386,359 (GRCm39)	I603T	probably damaging	Het
Rad9a	T	C	19: 4,251,336 (GRCm39)	K33E	probably benign	Het
Rimbp3	A	G	16: 17,028,958 (GRCm39)	D794G	probably damaging	Het
Septin5	G	A	16: 18,443,680 (GRCm39)	R90C	probably damaging	Het
Skint8	T	A	4: 111,794,103 (GRCm39)	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,247,424 (GRCm39)	I73L	probably benign	Het
Stab2	A	T	10: 86,815,872 (GRCm39)		probably benign	Het
Tnc	C	T	4: 63,918,959 (GRCm39)	V1155M	probably damaging	Het
Ttc13	T	G	8: 125,410,024 (GRCm39)	Q525P	probably damaging	Het
Ttn	T	C	2: 76,550,479 (GRCm39)	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,150,741 (GRCm39)	D577V	probably damaging	Het
Usp18	G	A	6: 121,238,380 (GRCm39)	V176M	probably benign	Het
Vmn1r184	T	C	7: 25,966,320 (GRCm39)	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,588,865 (GRCm39)	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,106,386 (GRCm39)	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,691,282 (GRCm39)	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,308,429 (GRCm39)	V603G	probably benign	Het
Wt1	A	G	2: 104,963,319 (GRCm39)	Y16C	probably damaging	Het
Wwp2	C	T	8: 108,232,977 (GRCm39)	T159I	probably benign	Het
Xirp2	T	C	2: 67,344,427 (GRCm39)	F2223L	probably benign	Het
Zan	T	A	5: 137,387,155 (GRCm39)	H4966L	unknown	Het

Other mutations in Or52z12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Or52z12	APN	7	103,233,900 (GRCm39)	missense	probably damaging	1.00
IGL01355:Or52z12	APN	7	103,233,580 (GRCm39)	missense	probably damaging	1.00
IGL01412:Or52z12	APN	7	103,234,114 (GRCm39)	missense	probably damaging	1.00
IGL02379:Or52z12	APN	7	103,234,099 (GRCm39)	missense	possibly damaging	0.84
ANU23:Or52z12	UTSW	7	103,233,900 (GRCm39)	missense	probably damaging	1.00
IGL03054:Or52z12	UTSW	7	103,234,047 (GRCm39)	missense	probably benign	0.23
R0536:Or52z12	UTSW	7	103,233,468 (GRCm39)	missense	probably damaging	1.00
R4222:Or52z12	UTSW	7	103,233,966 (GRCm39)	missense	probably damaging	1.00
R4224:Or52z12	UTSW	7	103,233,966 (GRCm39)	missense	probably damaging	1.00
R5342:Or52z12	UTSW	7	103,234,035 (GRCm39)	missense	probably benign	0.05
R5587:Or52z12	UTSW	7	103,233,738 (GRCm39)	missense	probably benign	0.07
R5607:Or52z12	UTSW	7	103,233,506 (GRCm39)	nonsense	probably null
R5608:Or52z12	UTSW	7	103,233,506 (GRCm39)	nonsense	probably null
R6904:Or52z12	UTSW	7	103,233,727 (GRCm39)	missense	possibly damaging	0.83
R6929:Or52z12	UTSW	7	103,233,651 (GRCm39)	missense	probably damaging	0.98
R7399:Or52z12	UTSW	7	103,233,588 (GRCm39)	missense	possibly damaging	0.78
R7607:Or52z12	UTSW	7	103,234,137 (GRCm39)	missense	probably damaging	0.97
R7771:Or52z12	UTSW	7	103,233,297 (GRCm39)	missense	probably benign	0.33
Z1177:Or52z12	UTSW	7	103,234,154 (GRCm39)	missense	probably benign
Z1177:Or52z12	UTSW	7	103,233,906 (GRCm39)	missense	probably benign	0.41

Posted On

2013-11-05