Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Or6z7'

163019

Institutional Source

Beutler Lab

Gene Symbol

Or6z7

Ensembl Gene

ENSMUSG00000096228

Gene Name

olfactory receptor family 6 subfamily Z member 7

Synonyms

MOR103-8, Olfr5, GA_x6K02T2QGBW-3210997-3210059

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6483215-6490013 bp(-) (GRCm39)

Type of Mutation

splice site (2897 bp from exon)

DNA Base Change (assembly)

A to G at 6484008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086318] [ENSMUST00000207658] [ENSMUST00000209866] [ENSMUST00000215302]

AlphaFold

Q60889

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086318
AA Change: I49T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228
AA Change: I49T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2.1e-50	PFAM
Pfam:7tm_1	45	294	6.9e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207658

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209866
AA Change: I49T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably null
Transcript: ENSMUST00000215302

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Apba3	C	T	10: 81,107,590 (GRCm39)	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,765 (GRCm39)	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hars2	C	T	18: 36,922,270 (GRCm39)	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942 (GRCm39)	S858*	probably null	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Ston2	A	T	12: 91,707,266 (GRCm39)	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	possibly damaging	Het

Other mutations in Or6z7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Or6z7	APN	7	6,483,997 (GRCm39)	missense	probably benign
IGL02174:Or6z7	APN	7	6,483,438 (GRCm39)	missense	probably benign
IGL03260:Or6z7	APN	7	6,483,658 (GRCm39)	missense	probably damaging	0.99
IGL03411:Or6z7	APN	7	6,483,435 (GRCm39)	missense	probably benign	0.26
R1186:Or6z7	UTSW	7	6,483,541 (GRCm39)	missense	probably benign	0.00
R1981:Or6z7	UTSW	7	6,483,931 (GRCm39)	missense	probably benign	0.29
R1982:Or6z7	UTSW	7	6,483,931 (GRCm39)	missense	probably benign	0.29
R3876:Or6z7	UTSW	7	6,484,131 (GRCm39)	missense	probably benign	0.01
R3907:Or6z7	UTSW	7	6,483,678 (GRCm39)	missense	probably damaging	1.00
R4422:Or6z7	UTSW	7	6,484,037 (GRCm39)	nonsense	probably null
R4654:Or6z7	UTSW	7	6,484,045 (GRCm39)	missense	probably benign	0.00
R5605:Or6z7	UTSW	7	6,483,325 (GRCm39)	missense	probably benign	0.00
R6962:Or6z7	UTSW	7	6,484,008 (GRCm39)	missense	probably benign	0.07
R7524:Or6z7	UTSW	7	6,483,586 (GRCm39)	missense	probably benign	0.04
R7576:Or6z7	UTSW	7	6,483,330 (GRCm39)	missense	probably damaging	0.97
R8306:Or6z7	UTSW	7	6,483,868 (GRCm39)	missense	possibly damaging	0.83
R8947:Or6z7	UTSW	7	6,483,246 (GRCm39)	missense	probably benign
R8967:Or6z7	UTSW	7	6,484,011 (GRCm39)	missense	possibly damaging	0.95
R9562:Or6z7	UTSW	7	6,483,243 (GRCm39)	missense	probably null	0.60
Z1177:Or6z7	UTSW	7	6,483,872 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTGCCCACAAGGACAATGAAG -3'
(R):5'- GGGACACAATGCATGTTTCTCCCAC -3'

Sequencing Primer
(F):5'- TGAAGAAGAAGAGTTGGGTCATAC -3'
(R):5'- GGTGTAAAGTACTGTGAACATCCC -3'

Posted On

2014-03-17