Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Or10z1'

253836

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

040460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174077455-174078542 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174078092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 134 (S134G)

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: S134G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050893
Gene: ENSMUSG00000050788
AA Change: S134G

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 benign
Transcript: ENSMUST00000214725
AA Change: S134G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1580

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably 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
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'- AGGATGAGGATTCCCAGTTCAC -3'
(R):5'- CTGAGACCTGCTACACATTGG -3'

Sequencing Primer
(F):5'- GATGAGGATTCCCAGTTCACTTAGC -3'
(R):5'- TGAGACCTGCTACACATTGGGAATC -3'

Posted On

2014-12-04