Mutagenetix > Incidental Mutation

Incidental Mutation 'R9719:Or6z1'

730663

Institutional Source

Beutler Lab

Gene Symbol

Or6z1

Ensembl Gene

ENSMUSG00000093877

Gene Name

olfactory receptor family 6 subfamily Z member 1

Synonyms

GA_x6K02T2QGBW-3232059-3231121, MOR103-9, Olfr1348

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9719 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6504285-6505223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6504999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 75 (M75I)

Ref Sequence

ENSEMBL: ENSMUSP00000147205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086319] [ENSMUST00000207055] [ENSMUST00000207339] [ENSMUST00000207624] [ENSMUST00000208066] [ENSMUST00000208207] [ENSMUST00000208623] [ENSMUST00000209097] [ENSMUST00000209029] [ENSMUST00000209055] [ENSMUST00000213549] [ENSMUST00000214383]

AlphaFold

F6VB59

Predicted Effect

probably benign
Transcript: ENSMUST00000086319
AA Change: M81I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000083499
Gene: ENSMUSG00000093877
AA Change: M81I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	317	4.9e-50	PFAM
Pfam:7tm_1	51	300	2.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207055
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000207339

Predicted Effect

probably benign
Transcript: ENSMUST00000207624
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000208066
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000208207
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000208623

Predicted Effect

probably benign
Transcript: ENSMUST00000209097
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000209029
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000209055

Predicted Effect

probably benign
Transcript: ENSMUST00000213549
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000214383
AA Change: M75I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	A	1: 87,016,136 (GRCm39)	Q241L	probably benign	Het
Apob	T	A	12: 8,065,464 (GRCm39)	N4144K	probably benign	Het
B4gat1	A	G	19: 5,090,516 (GRCm39)	H413R	probably benign	Het
Ccdc179	T	C	7: 51,664,612 (GRCm39)	T28A	probably benign	Het
Ceacam5	A	C	7: 17,491,835 (GRCm39)	D735A	probably damaging	Het
Col18a1	C	T	10: 76,949,432 (GRCm39)	D27N	unknown	Het
Colgalt1	A	G	8: 72,073,456 (GRCm39)	E359G	probably benign	Het
Crybg2	T	A	4: 133,793,148 (GRCm39)	I261N	probably benign	Het
Cyyr1	A	T	16: 85,219,203 (GRCm39)	L68Q	unknown	Het
Dgkz	T	A	2: 91,768,911 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,867,912 (GRCm39)	E3947V	unknown	Het
Eif2ak2	C	A	17: 79,162,783 (GRCm39)	D472Y	probably damaging	Het
Elp2	A	G	18: 24,755,539 (GRCm39)	T429A	possibly damaging	Het
Fen1	G	A	19: 10,178,016 (GRCm39)	H143Y	probably benign	Het
Gm10518	C	A	1: 179,631,113 (GRCm39)	R58S	unknown	Het
Hspa1b	T	C	17: 35,176,467 (GRCm39)	D506G	probably damaging	Het
Inhca	G	T	9: 103,132,014 (GRCm39)	P569H	probably benign	Het
Kcna7	A	G	7: 45,056,390 (GRCm39)	D202G	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mal	C	T	2: 127,498,025 (GRCm39)	S10N	possibly damaging	Het
Mgat2	T	A	12: 69,232,115 (GRCm39)	W230R	probably damaging	Het
Myo3a	A	T	2: 22,436,493 (GRCm39)	T883S	probably benign	Het
Ncaph2	T	C	15: 89,249,526 (GRCm39)	S277P	probably benign	Het
Olfm3	G	A	3: 114,916,091 (GRCm39)	W341*	probably null	Het
Or13c7e-ps1	A	C	4: 43,781,454 (GRCm39)	M292R	probably damaging	Het
Or1p1	A	C	11: 74,180,146 (GRCm39)	I225L	probably damaging	Het
Or5b119	A	G	19: 13,457,368 (GRCm39)	S65P	probably damaging	Het
Or5d46	T	A	2: 88,169,928 (GRCm39)	N6K		Het
Or5g26	T	A	2: 85,494,608 (GRCm39)	I57F	probably benign	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Ptpn14	T	A	1: 189,583,484 (GRCm39)	M777K	probably benign	Het
Rasef	A	G	4: 73,688,102 (GRCm39)	I17T	possibly damaging	Het
Rptor	A	T	11: 119,781,940 (GRCm39)	D1089V	probably benign	Het
Scel	A	T	14: 103,809,442 (GRCm39)		probably null	Het
Scfd2	A	T	5: 74,386,004 (GRCm39)	L605Q	probably damaging	Het
Son	A	G	16: 91,456,440 (GRCm39)	E1729G	probably damaging	Het
Spata31e2	C	G	1: 26,722,820 (GRCm39)	E787Q	probably benign	Het
Spout1	A	G	2: 30,065,813 (GRCm39)	Y243H	probably benign	Het
Syne1	A	G	10: 5,276,601 (GRCm39)	F1765S	possibly damaging	Het
Tet2	A	T	3: 133,191,803 (GRCm39)	V877E	possibly damaging	Het
Txn2	T	C	15: 77,812,289 (GRCm39)		probably benign	Het
Vmn1r158	T	C	7: 22,489,331 (GRCm39)	I293V	possibly damaging	Het
Vmn1r81	G	A	7: 11,994,449 (GRCm39)	T53I	probably damaging	Het
Vps18	T	C	2: 119,127,553 (GRCm39)	F792S	probably damaging	Het
Vps25	A	G	11: 101,146,853 (GRCm39)	D91G	probably null	Het
Wdr26	G	A	1: 181,015,224 (GRCm39)	L396F	possibly damaging	Het
Zfp1005	T	A	2: 150,111,304 (GRCm39)	C665S	possibly damaging	Het
Zfp26	T	C	9: 20,347,861 (GRCm39)	E901G	possibly damaging	Het

Other mutations in Or6z1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Or6z1	APN	7	6,504,899 (GRCm39)	missense	probably benign	0.00
IGL03157:Or6z1	APN	7	6,504,892 (GRCm39)	missense	probably damaging	1.00
R0006:Or6z1	UTSW	7	6,504,610 (GRCm39)	missense	possibly damaging	0.58
R1763:Or6z1	UTSW	7	6,504,440 (GRCm39)	missense	probably benign	0.07
R2178:Or6z1	UTSW	7	6,504,487 (GRCm39)	missense	probably damaging	0.98
R5787:Or6z1	UTSW	7	6,504,989 (GRCm39)	missense	probably damaging	1.00
R5884:Or6z1	UTSW	7	6,504,842 (GRCm39)	missense	probably benign	0.02
R6248:Or6z1	UTSW	7	6,504,675 (GRCm39)	nonsense	probably null
R7026:Or6z1	UTSW	7	6,504,820 (GRCm39)	missense	probably damaging	0.97
R7635:Or6z1	UTSW	7	6,504,581 (GRCm39)	missense	probably benign	0.06
R7955:Or6z1	UTSW	7	6,505,078 (GRCm39)	missense	possibly damaging	0.91
R8443:Or6z1	UTSW	7	6,504,734 (GRCm39)	missense	probably damaging	1.00
R9474:Or6z1	UTSW	7	6,505,150 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACATACTTGGGGCCTCATGAG -3'
(R):5'- TTCAGAAGTTCCTCTTGCTGGG -3'

Sequencing Primer
(F):5'- GCCTCATGAGCAGTGGGTAG -3'
(R):5'- GATTGTCCACTAGGCTGGAC -3'

Posted On

2022-10-06