Mutagenetix > Incidental Mutation

Incidental Mutation 'BB009:Or10z1'

642497

Institutional Source

Beutler Lab

Gene Symbol

Or10z1

Ensembl Gene

ENSMUSG00000050788

Gene Name

olfactory receptor family 10 subfamily Z member 1

Synonyms

MOR267-6, Olfr419, GA_x6K02T2P20D-20891507-20892448

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

BB009

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

174077455-174078542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174078260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 78 (I78V)

Ref Sequence

ENSEMBL: ENSMUSP00000149512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027817] [ENSMUST00000061990] [ENSMUST00000214725]

AlphaFold

E9Q0Y7

Predicted Effect

probably benign
Transcript: ENSMUST00000027817

SMART Domains

Protein: ENSMUSP00000027817
Gene: ENSMUSG00000026532

Domain	Start	End	E-Value	Type
SPEC	55	153	3.62e-11	SMART
SPEC	159	259	1.84e-26	SMART
SPEC	265	365	1.56e-24	SMART
SPEC	371	471	8.35e-25	SMART
SPEC	477	577	1.19e-29	SMART
SPEC	583	682	2.43e-26	SMART
SPEC	688	788	1.3e-26	SMART
SPEC	794	894	1.66e-28	SMART
SPEC	900	1077	5.03e-19	SMART
SH3	978	1033	2.98e-15	SMART
SPEC	1083	1178	2.57e-16	SMART
SPEC	1184	1284	1.15e-27	SMART
SPEC	1290	1390	7.05e-23	SMART
SPEC	1396	1495	6.04e-22	SMART
SPEC	1501	1602	1.15e-27	SMART
SPEC	1608	1708	5.46e-29	SMART
SPEC	1714	1814	1.08e-32	SMART
SPEC	1820	1921	2.17e-23	SMART
SPEC	1927	2028	2.19e-19	SMART
SPEC	2042	2142	3.87e-11	SMART
SPEC	2156	2253	9.77e-8	SMART
low complexity region	2307	2318	N/A	INTRINSIC
efhand_Ca_insen	2346	2414	2.37e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061990
AA Change: I78V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000050893
Gene: ENSMUSG00000050788
AA Change: I78V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-53	PFAM
Pfam:7tm_1	41	290	3.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214725
AA Change: I78V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly damaging	Het

Other mutations in Or10z1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Or10z1	APN	1	174,078,092 (GRCm39)	missense	probably benign	0.41
IGL01765:Or10z1	APN	1	174,077,703 (GRCm39)	missense	probably damaging	1.00
IGL02718:Or10z1	APN	1	174,078,273 (GRCm39)	nonsense	probably null
IGL03208:Or10z1	APN	1	174,077,959 (GRCm39)	missense	probably damaging	1.00
BB019:Or10z1	UTSW	1	174,078,260 (GRCm39)	missense	probably benign	0.00
R1406:Or10z1	UTSW	1	174,078,427 (GRCm39)	missense	possibly damaging	0.51
R1406:Or10z1	UTSW	1	174,078,427 (GRCm39)	missense	possibly damaging	0.51
R1760:Or10z1	UTSW	1	174,077,926 (GRCm39)	missense	probably damaging	0.99
R2138:Or10z1	UTSW	1	174,078,302 (GRCm39)	splice site	probably null
R2139:Or10z1	UTSW	1	174,078,302 (GRCm39)	splice site	probably null
R2869:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2869:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2871:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2871:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2872:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2872:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2873:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R2874:Or10z1	UTSW	1	174,078,092 (GRCm39)	missense	probably benign	0.41
R3854:Or10z1	UTSW	1	174,077,716 (GRCm39)	missense	probably damaging	1.00
R4614:Or10z1	UTSW	1	174,078,188 (GRCm39)	missense	possibly damaging	0.93
R4858:Or10z1	UTSW	1	174,078,262 (GRCm39)	missense	probably damaging	1.00
R5015:Or10z1	UTSW	1	174,078,448 (GRCm39)	missense	possibly damaging	0.91
R5138:Or10z1	UTSW	1	174,078,395 (GRCm39)	missense	probably damaging	0.97
R5296:Or10z1	UTSW	1	174,078,322 (GRCm39)	missense	possibly damaging	0.75
R5369:Or10z1	UTSW	1	174,078,007 (GRCm39)	missense	probably damaging	1.00
R6285:Or10z1	UTSW	1	174,078,395 (GRCm39)	missense	possibly damaging	0.62
R7655:Or10z1	UTSW	1	174,077,784 (GRCm39)	missense	probably damaging	1.00
R7656:Or10z1	UTSW	1	174,077,784 (GRCm39)	missense	probably damaging	1.00
R7753:Or10z1	UTSW	1	174,078,236 (GRCm39)	missense	probably benign	0.01
R7932:Or10z1	UTSW	1	174,078,260 (GRCm39)	missense	probably benign	0.00
R8179:Or10z1	UTSW	1	174,078,130 (GRCm39)	missense	possibly damaging	0.75
R9336:Or10z1	UTSW	1	174,077,679 (GRCm39)	missense	probably damaging	1.00
R9758:Or10z1	UTSW	1	174,077,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCATAATGAAGTGGGGCAC -3'
(R):5'- TGGTAGAGAGCAATGTGACCTG -3'

Sequencing Primer
(F):5'- GGCACAGATGGCCACATATCTATC -3'
(R):5'- AATGTGACCTGCTGGCAG -3'

Posted On

2020-08-01