Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Or10z1'

372200

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

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

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

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174077455-174078542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174078262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 77 (I77N)

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 damaging
Transcript: ENSMUST00000061990
AA Change: I77N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050893
Gene: ENSMUSG00000050788
AA Change: I77N

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

noncoding transcript
Transcript: ENSMUST00000156092

Predicted Effect

probably damaging
Transcript: ENSMUST00000214725
AA Change: I77N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3694

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	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
BB009:Or10z1	UTSW	1	174,078,260 (GRCm39)	missense	probably benign	0.00
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
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'- CGGCTGGCATAATGAAGTGG -3'
(R):5'- TAGAGAGCAATGTGACCTGCTG -3'

Sequencing Primer
(F):5'- CTGGCATAATGAAGTGGGGCAC -3'
(R):5'- CTTCTCTAGCTTCGGGGAGC -3'

Posted On

2016-03-01