Mutagenetix > Incidental Mutation

Incidental Mutation 'R9741:Or52z1'

731833

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9741 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103436419-103441037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103436941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 181 (P181H)

Ref Sequence

ENSEMBL: ENSMUSP00000138389 (fasta)

Gene Model

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

AlphaFold

F8VPJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000183254
AA Change: P181H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: P181H

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: 99.8%
10x: 99.5%
20x: 99.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,860,339 (GRCm39)	K35*	probably null	Het
Apoc3	G	T	9: 46,145,998 (GRCm39)	T5K	unknown	Het
Arhgap20	T	A	9: 51,760,730 (GRCm39)	Y860*	probably null	Het
Arhgef11	T	C	3: 87,595,156 (GRCm39)	S123P	probably benign	Het
Armh4	A	G	14: 50,008,081 (GRCm39)	I464T	probably benign	Het
Axdnd1	T	A	1: 156,169,385 (GRCm39)	Y827F	probably benign	Het
Bbs5	A	G	2: 69,484,695 (GRCm39)	T122A	probably benign	Het
Btbd6	T	A	12: 112,940,923 (GRCm39)	D173E	probably benign	Het
Cblb	T	C	16: 51,932,490 (GRCm39)	I149T	probably damaging	Het
Cyp2ab1	G	A	16: 20,132,953 (GRCm39)	R214C	probably damaging	Het
Dbn1	C	T	13: 55,624,114 (GRCm39)	S372N	possibly damaging	Het
Dlg1	T	A	16: 31,676,735 (GRCm39)	Y776*	probably null	Het
Dock9	A	T	14: 121,877,516 (GRCm39)	I409N	probably damaging	Het
Ect2	A	T	3: 27,156,607 (GRCm39)	N815K	probably benign	Het
Fbxw11	G	T	11: 32,685,358 (GRCm39)	V398L	probably damaging	Het
Gcsam	T	C	16: 45,436,319 (GRCm39)	F34S	possibly damaging	Het
Ghsr	G	A	3: 27,428,898 (GRCm39)	V308I	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
H1f10	A	G	6: 87,958,200 (GRCm39)	Y47H	probably damaging	Het
Hspg2	T	C	4: 137,239,962 (GRCm39)	F510S	probably damaging	Het
Htr1a	T	C	13: 105,581,861 (GRCm39)	V367A	possibly damaging	Het
Iars1	T	G	13: 49,844,978 (GRCm39)	F163C	probably damaging	Het
Igfn1	T	C	1: 135,895,383 (GRCm39)	T1728A	probably benign	Het
Ighv7-3	C	T	12: 114,116,995 (GRCm39)	V56I	probably benign	Het
Lrp1b	A	T	2: 41,002,300 (GRCm39)	I2133N		Het
Lrrc37	T	C	11: 103,504,255 (GRCm39)	E2571G	possibly damaging	Het
Or2d2	A	G	7: 106,728,366 (GRCm39)	V78A	possibly damaging	Het
Pkd1l1	T	C	11: 8,897,224 (GRCm39)	T562A		Het
Ppp1r10	G	A	17: 36,237,331 (GRCm39)	R167Q	possibly damaging	Het
Ppp1r13l	C	T	7: 19,103,725 (GRCm39)	R69W	probably damaging	Het
Proser2	G	A	2: 6,105,580 (GRCm39)	A328V	probably benign	Het
Rhou	A	G	8: 124,380,914 (GRCm39)	Y77C	possibly damaging	Het
Rprml	T	A	11: 103,540,857 (GRCm39)	L84Q	probably damaging	Het
Ryr3	C	T	2: 112,477,271 (GRCm39)	C4515Y	probably benign	Het
Slc9a3	T	A	13: 74,306,994 (GRCm39)	I373N	possibly damaging	Het
Snx21	C	T	2: 164,634,231 (GRCm39)	A339V	probably benign	Het
Srpk1	G	A	17: 28,818,652 (GRCm39)	P395S	probably benign	Het
Syt14	A	T	1: 192,666,449 (GRCm39)	S152T	unknown	Het
Urb2	G	T	8: 124,755,751 (GRCm39)	R486L	probably damaging	Het
Utrn	T	A	10: 12,702,564 (GRCm39)	M7L	probably benign	Het
Vmn2r59	T	A	7: 41,708,209 (GRCm39)	D66V	probably damaging	Het
Znrf2	T	C	6: 54,855,370 (GRCm39)	I197T	probably damaging	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
R5959:Or52z1	UTSW	7	103,436,723 (GRCm39)	missense	probably damaging	0.99
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
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'- TGGGAGCCACATGTGTTGAG -3'
(R):5'- ACATTTCATCTTTGTGGCAGAGTC -3'

Sequencing Primer
(F):5'- AGGGCCTTGTATCTGGCAGC -3'
(R):5'- AGAGTCTGCTATTCTTCTGGCCATG -3'

Posted On

2022-11-14