Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Or6z5'

18420

Institutional Source

Beutler Lab

Gene Symbol

Or6z5

Ensembl Gene

ENSMUSG00000054938

Gene Name

olfactory receptor family 6 subfamily Z member 5

Synonyms

Olfr1346, GA_x6K02T2QGBW-3203957-3204898, MOR103-6

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6477111-6478052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6477679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 190 (L190P)

Ref Sequence

ENSEMBL: ENSMUSP00000150503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056144] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]

AlphaFold

Q8VGH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000056144
AA Change: L190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050553
Gene: ENSMUSG00000054938
AA Change: L190P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	7.2e-44	PFAM
Pfam:7tm_1	45	295	5.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207658
AA Change: L190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000209866

Predicted Effect

probably damaging
Transcript: ENSMUST00000215302
AA Change: L190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7687

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

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
Abca8b	A	T	11: 109,832,385 (GRCm39)	F1309L	possibly damaging	Het
Abcc6	C	T	7: 45,669,567 (GRCm39)	A163T	probably benign	Het
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,556,156 (GRCm39)	F392L	probably damaging	Het
Ak9	A	T	10: 41,268,724 (GRCm39)	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Arhgef10l	A	G	4: 140,338,529 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,141 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Celsr1	A	C	15: 85,914,963 (GRCm39)	S1003R	probably benign	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Cux1	T	A	5: 136,285,136 (GRCm39)	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Emc8	A	G	8: 121,385,822 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,748 (GRCm39)	K152R	probably null	Het
Eps8l2	C	T	7: 140,922,884 (GRCm39)	T49I	probably benign	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gm12251	C	A	11: 58,283,867 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Il17a	T	A	1: 20,803,881 (GRCm39)	I92N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Irak4	A	C	15: 94,451,753 (GRCm39)	R115S	probably benign	Het
Jarid2	C	T	13: 45,038,332 (GRCm39)	H77Y	probably damaging	Het
Kcnk6	A	T	7: 28,925,088 (GRCm39)	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,276,217 (GRCm39)		probably benign	Het
Kremen2	A	C	17: 23,962,202 (GRCm39)	I210S	possibly damaging	Het
Ldah	T	C	12: 8,288,432 (GRCm39)		probably benign	Het
Lgals9	A	T	11: 78,862,262 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd4b4	T	A	10: 39,891,097 (GRCm38)		probably benign	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Mycbp2	T	C	14: 103,389,578 (GRCm39)	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,892,611 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,268 (GRCm39)	N79S	probably damaging	Het
Npsr1	A	T	9: 24,211,723 (GRCm39)	I84F	probably damaging	Het
Or52h1	G	T	7: 103,829,536 (GRCm39)	H26Q	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,610,357 (GRCm39)	S977P	probably benign	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,079,827 (GRCm39)	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,400,356 (GRCm39)	C154*	probably null	Het
Tdrd6	G	A	17: 43,928,052 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,575,975 (GRCm39)		probably benign	Het
Top3a	C	T	11: 60,631,510 (GRCm39)	A951T	probably benign	Het
Tram2	C	T	1: 21,076,378 (GRCm39)	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	Het

Other mutations in Or6z5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0446:Or6z5	UTSW	7	6,478,024 (GRCm39)	missense	probably benign	0.00
R0531:Or6z5	UTSW	7	6,477,234 (GRCm39)	missense	possibly damaging	0.81
R0622:Or6z5	UTSW	7	6,477,598 (GRCm39)	missense	possibly damaging	0.46
R1596:Or6z5	UTSW	7	6,477,514 (GRCm39)	missense	probably damaging	1.00
R2233:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R2234:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R2235:Or6z5	UTSW	7	6,477,441 (GRCm39)	missense	possibly damaging	0.94
R4441:Or6z5	UTSW	7	6,477,924 (GRCm39)	missense	probably benign	0.01
R4888:Or6z5	UTSW	7	6,477,612 (GRCm39)	missense	probably damaging	0.97
R4890:Or6z5	UTSW	7	6,477,848 (GRCm39)	nonsense	probably null
R5696:Or6z5	UTSW	7	6,477,742 (GRCm39)	splice site	probably null
R6173:Or6z5	UTSW	7	6,477,835 (GRCm39)	missense	probably damaging	1.00
R6643:Or6z5	UTSW	7	6,477,720 (GRCm39)	missense	probably benign	0.11
R7404:Or6z5	UTSW	7	6,477,163 (GRCm39)	missense	probably damaging	1.00
R8120:Or6z5	UTSW	7	6,477,119 (GRCm39)	missense	probably benign	0.02
R8961:Or6z5	UTSW	7	6,477,763 (GRCm39)	missense	probably benign
R9009:Or6z5	UTSW	7	6,477,399 (GRCm39)	missense	probably benign	0.02
R9568:Or6z5	UTSW	7	6,477,334 (GRCm39)	missense	probably damaging	1.00
R9744:Or6z5	UTSW	7	6,477,210 (GRCm39)	missense	probably benign
Z1177:Or6z5	UTSW	7	6,477,389 (GRCm39)	missense	possibly damaging	0.50

Posted On

2013-03-25