Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Or52z1'

471348

Institutional Source

Beutler Lab

Gene Symbol

Or52z1

Ensembl Gene

ENSMUSG00000047535

Gene Name

olfactory receptor family 52 subfamily Z member 1

Synonyms

GA_x6K02T2PBJ9-6515150-6514170, Olfr67, MOR31-1, 3'[b]1

MMRRC Submission

044146-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103436419-103441037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103436723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 254 (I254F)

Ref Sequence

ENSEMBL: ENSMUSP00000138389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000183254]

AlphaFold

F8VPJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000183254
AA Change: I254F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: I254F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	41	231	5.5e-11	PFAM
Pfam:7tm_1	47	299	2.7e-30	PFAM
Pfam:7tm_4	146	292	1.7e-29	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,106,792 (GRCm39)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,073,888 (GRCm39)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,118,780 (GRCm39)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,173 (GRCm39)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,451,879 (GRCm39)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,860,132 (GRCm39)	Y862*	probably null	Het
Cfap221	T	A	1: 119,860,511 (GRCm39)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Chga	T	C	12: 102,528,114 (GRCm39)	S202P	probably benign	Het
Cnmd	T	C	14: 79,894,109 (GRCm39)	I93V	probably damaging	Het
Cpne1	G	A	2: 155,920,143 (GRCm39)	S188L	probably benign	Het
Dchs2	G	A	3: 83,232,725 (GRCm39)	V2237I	probably benign	Het
Dguok	C	T	6: 83,467,574 (GRCm39)	R91H	probably benign	Het
Eed	A	G	7: 89,618,835 (GRCm39)	I193T	probably damaging	Het
Fasn	C	T	11: 120,699,390 (GRCm39)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,334,011 (GRCm39)	H160Y	probably benign	Het
Gramd4	T	A	15: 86,011,758 (GRCm39)	M272K	probably damaging	Het
Hfm1	A	G	5: 107,022,783 (GRCm39)	S940P	probably damaging	Het
Ifnlr1	T	A	4: 135,432,652 (GRCm39)	S363T	possibly damaging	Het
Jak3	A	G	8: 72,134,715 (GRCm39)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,327,330 (GRCm39)	K40E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,070,380 (GRCm39)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,548,345 (GRCm39)	T38A	probably benign	Het
Myt1l	T	C	12: 29,970,039 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,338,802 (GRCm39)	V214A	probably damaging	Het
Neb	C	A	2: 52,046,389 (GRCm39)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,965,413 (GRCm39)	F1666I	probably benign	Het
Or8b1	A	G	9: 38,400,207 (GRCm39)	N294S	probably damaging	Het
Prmt8	C	A	6: 127,706,381 (GRCm39)	V137L	probably damaging	Het
Ptpn21	A	T	12: 98,675,148 (GRCm39)		probably null	Het
Rab15	A	G	12: 76,869,043 (GRCm39)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,629,339 (GRCm39)	I338L	probably benign	Het
Rragc	G	A	4: 123,817,767 (GRCm39)	S218N	probably damaging	Het
Sacs	T	C	14: 61,449,849 (GRCm39)	M3965T	probably damaging	Het
Sgo2b	T	A	8: 64,380,322 (GRCm39)	I837F	probably benign	Het
Sorcs3	T	G	19: 48,737,835 (GRCm39)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,058,920 (GRCm39)	D352G	probably benign	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spata31f1e	T	A	4: 42,793,492 (GRCm39)	K213N	probably damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tenm3	T	A	8: 49,099,482 (GRCm39)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,517,337 (GRCm39)	M403L	probably benign	Het
Trappc11	T	C	8: 47,954,593 (GRCm39)	D949G	probably damaging	Het
Ttn	A	G	2: 76,544,960 (GRCm39)	I32714T	probably damaging	Het
Ttn	T	A	2: 76,693,849 (GRCm39)	T218S	possibly damaging	Het
Uaca	A	T	9: 60,778,052 (GRCm39)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 87,073,813 (GRCm39)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,049,786 (GRCm39)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,005,313 (GRCm39)	M317L	probably benign	Het
Vwa2	T	C	19: 56,869,604 (GRCm39)	L13P	possibly damaging	Het
Zc3hav1	G	A	6: 38,284,379 (GRCm39)	T912I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,807,776 (GRCm39)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,167,887 (GRCm39)	V143G	unknown	Het

Other mutations in Or52z1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Or52z1	APN	7	103,436,843 (GRCm39)	missense	probably damaging	0.97
IGL01352:Or52z1	APN	7	103,437,285 (GRCm39)	nonsense	probably null	0.00
IGL02318:Or52z1	APN	7	103,437,475 (GRCm39)	missense	probably benign
R0413:Or52z1	UTSW	7	103,437,362 (GRCm39)	missense	probably damaging	1.00
R0964:Or52z1	UTSW	7	103,436,604 (GRCm39)	missense	probably benign	0.18
R2092:Or52z1	UTSW	7	103,437,279 (GRCm39)	missense	possibly damaging	0.50
R3963:Or52z1	UTSW	7	103,437,241 (GRCm39)	missense	probably benign	0.02
R4299:Or52z1	UTSW	7	103,437,202 (GRCm39)	missense	probably benign	0.38
R4799:Or52z1	UTSW	7	103,436,688 (GRCm39)	missense	possibly damaging	0.49
R5410:Or52z1	UTSW	7	103,436,581 (GRCm39)	missense	probably damaging	0.97
R6084:Or52z1	UTSW	7	103,437,162 (GRCm39)	missense	probably benign	0.11
R6336:Or52z1	UTSW	7	103,437,452 (GRCm39)	missense	possibly damaging	0.86
R7077:Or52z1	UTSW	7	103,436,593 (GRCm39)	missense	probably damaging	0.99
R7453:Or52z1	UTSW	7	103,436,879 (GRCm39)	missense	possibly damaging	0.90
R8695:Or52z1	UTSW	7	103,436,729 (GRCm39)	missense	possibly damaging	0.81
R8753:Or52z1	UTSW	7	103,436,567 (GRCm39)	missense	probably benign	0.08
R9062:Or52z1	UTSW	7	103,437,155 (GRCm39)	missense	probably benign	0.00
R9126:Or52z1	UTSW	7	103,437,002 (GRCm39)	missense	probably benign	0.27
R9741:Or52z1	UTSW	7	103,436,941 (GRCm39)	missense	probably benign	0.00
R9784:Or52z1	UTSW	7	103,436,732 (GRCm39)	missense	probably benign	0.02
Z1088:Or52z1	UTSW	7	103,436,572 (GRCm39)	missense	probably damaging	0.99
Z1176:Or52z1	UTSW	7	103,436,660 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GAAAACCACTCGATCTTGGATCTG -3'
(R):5'- AATTCCCCATTCATACTGTGAGC -3'

Sequencing Primer
(F):5'- GCTTGGTCTTCACACCATAGATGATG -3'
(R):5'- CCATTCATACTGTGAGCACATGGG -3'

Posted On

2017-03-31