Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Or52z1'

81478

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

039093-MU

Accession Numbers

Essential gene?

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

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103436419-103441037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103436604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 293 (M293I)

Ref Sequence

ENSEMBL: ENSMUSP00000138389 (fasta)

Gene Model

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

AlphaFold

F8VPJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000062377
AA Change: M293I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091670
Gene: ENSMUSG00000047535
AA Change: M293I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	317	3.7e-114	PFAM
Pfam:7TM_GPCR_Srsx	41	231	5.5e-11	PFAM
Pfam:7tm_1	47	299	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183254
AA Change: M293I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: M293I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	probably benign	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
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
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'- ACCTCATACATTTGCTGATGGGCAGAG -3'
(R):5'- AAATCCCTTCCTGGGCTGCCAGATAC -3'

Sequencing Primer
(F):5'- TCCTCTTGAAAGTGAAGCACTC -3'
(R):5'- TGCCAGATACAAGGCCCTC -3'

Posted On

2013-11-07