Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Or52z1'

689035

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

068888-MU

Accession Numbers

Essential gene?

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

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103436419-103441037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103437155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 110 (I110L)

Ref Sequence

ENSEMBL: ENSMUSP00000138389 (fasta)

Gene Model

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

AlphaFold

F8VPJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000183254
AA Change: I110L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138389
Gene: ENSMUSG00000047535
AA Change: I110L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,665,928 (GRCm39)	T76A	probably benign	Het
Etfrf1	A	T	6: 145,161,153 (GRCm39)	N41I	probably damaging	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Setbp1	A	G	18: 78,900,266 (GRCm39)	S1134P	probably benign	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Sri	T	C	5: 8,106,625 (GRCm39)	Y13H	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Vwa1	A	T	4: 155,854,820 (GRCm39)	S405T	probably benign	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	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
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'- AGTTTCCCACAATACAGAAGTCG -3'
(R):5'- GCTGTCATAGGCAATGTCCTCC -3'

Sequencing Primer
(F):5'- ACAATACAGAAGTCGATATACCAGG -3'
(R):5'- CTAATCTTCCTGATAGTGACTGAACG -3'

Posted On

2021-11-19