Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Olfr203'

460051

Institutional Source

Beutler Lab

Gene Symbol

Olfr203

Ensembl Gene

ENSMUSG00000068182

Gene Name

olfactory receptor 203

Synonyms

MOR182-5, GA_x54KRFPKG5P-55517445-55518365

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59298881-59304413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59303158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 2 (E2K)

Ref Sequence

ENSEMBL: ENSMUSP00000149906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000201687] [ENSMUST00000215893]

AlphaFold

L7N205

Predicted Effect

probably damaging
Transcript: ENSMUST00000089305
AA Change: E3K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: E3K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1e-46	PFAM
Pfam:7tm_1	41	290	7.6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201687
AA Change: E2K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: E2K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	3.4e-46	PFAM
Pfam:7tm_1	40	289	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215893
AA Change: E2K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

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
Abca17	T	A	17: 24,318,185	I475L	probably benign	Het
Abcc2	C	T	19: 43,819,358	R813W	probably damaging	Het
Adam34	T	C	8: 43,652,030	T193A	probably benign	Het
Adgb	T	C	10: 10,378,787	D1118G	probably damaging	Het
Adprh	A	C	16: 38,447,384	S180A	probably benign	Het
AI314180	A	T	4: 58,849,948	M425K	possibly damaging	Het
Atad5	A	T	11: 80,094,177	D30V	probably damaging	Het
Best3	G	A	10: 117,007,627	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,087,736		probably benign	Het
Btc	A	T	5: 91,366,145	V86E	probably damaging	Het
C530008M17Rik	A	C	5: 76,841,734		probably benign	Het
Cacna2d4	G	T	6: 119,281,698	A582S	probably benign	Het
Carm1	A	G	9: 21,575,302		probably benign	Het
Catsperg1	A	T	7: 29,206,615	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,747,482	H547Q	probably benign	Het
Ccl6	A	G	11: 83,588,832	I115T	possibly damaging	Het
Cd44	C	T	2: 102,824,303	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,889,793	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,734,019	Q1122K	probably benign	Het
Cep290	A	G	10: 100,551,830	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,359,740	P512S	possibly damaging	Het
Chrdl2	A	T	7: 100,009,993		probably benign	Het
Clec7a	A	T	6: 129,465,467	F199Y	probably damaging	Het
Dhx29	A	G	13: 112,964,468	K1182E	probably benign	Het
Dnah11	G	T	12: 117,914,636		probably null	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Egfem1	T	C	3: 29,582,928	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,275,332		probably null	Het
Exosc9	T	A	3: 36,555,625		probably benign	Het
Fam92a	A	G	4: 12,171,919		probably benign	Het
Fbxw18	T	A	9: 109,700,081	T135S	probably damaging	Het
Fbxw21	T	C	9: 109,143,825	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,103,398	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,519,353	Q46K	probably benign	Het
Gm6741	A	G	17: 91,237,100	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,911,987	L532S	probably damaging	Het
Hdac3	C	T	18: 37,941,341		probably benign	Het
Helz2	A	T	2: 181,230,384	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 64,823,673	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,598,897	D4746E	possibly damaging	Het
Il17rb	C	A	14: 30,004,275		probably null	Het
Irak2	A	T	6: 113,676,626	I252F	probably damaging	Het
Khnyn	C	T	14: 55,885,887	R33C	probably damaging	Het
Ksr1	G	A	11: 79,059,719	P20L	probably damaging	Het
Lamc3	T	C	2: 31,921,709	Y903H	probably benign	Het
Miga2	T	C	2: 30,368,863		probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Ncoa4	T	C	14: 32,166,721		probably null	Het
Nphp3	T	C	9: 104,035,797	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,188,193	L420R	probably damaging	Het
Olfr74	T	A	2: 87,974,036	S210C	probably benign	Het
Olfr857	A	T	9: 19,713,753	T309S	probably benign	Het
Onecut1	A	G	9: 74,862,784	N163S	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Per2	C	T	1: 91,444,651	V234I	probably damaging	Het
Pign	A	G	1: 105,558,067	V735A	possibly damaging	Het
Plekha7	T	C	7: 116,128,574	K85R	probably benign	Het
Pnma2	C	T	14: 66,916,874	T249I	probably benign	Het
Polr2b	A	G	5: 77,345,342	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,740,352	L519H	probably damaging	Het
Ptar1	T	C	19: 23,717,913	I248T	probably benign	Het
Ptprh	A	C	7: 4,573,508	L251R	probably damaging	Het
Purg	T	C	8: 33,386,952	M206T	probably benign	Het
Pwp2	A	T	10: 78,182,456	F134I	probably damaging	Het
Riok3	T	A	18: 12,153,018	H434Q	probably benign	Het
Sorbs2	A	G	8: 45,763,183	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,219,144	I598V	probably benign	Het
Tdg	T	A	10: 82,641,370	V85E	probably benign	Het
Tfb1m	C	T	17: 3,543,147	V166I	probably benign	Het
Tmem163	A	T	1: 127,491,646	M274K	probably damaging	Het
Tpr	T	C	1: 150,428,127	I1343T	probably benign	Het
Ttn	T	A	2: 76,889,450		probably benign	Het
Usp34	A	G	11: 23,436,040	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,076,317	T176S	possibly damaging	Het
Vps52	C	T	17: 33,961,126	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,523,514		probably benign	Het
Ythdc2	T	A	18: 44,833,205	F169L	probably benign	Het
Zcchc6	G	A	13: 59,822,066	A5V	probably benign	Het
Zfyve16	T	C	13: 92,522,117	R429G	probably benign	Het
Zzef1	A	G	11: 72,912,852	E2504G	probably damaging	Het

Other mutations in Olfr203

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Olfr203	APN	16	59303633	missense	probably damaging	0.99
IGL02294:Olfr203	APN	16	59303612	missense	probably damaging	1.00
IGL02412:Olfr203	APN	16	59303192	missense	probably damaging	1.00
IGL02899:Olfr203	APN	16	59303286	missense	probably damaging	1.00
R0792:Olfr203	UTSW	16	59303989	missense	probably damaging	0.99
R1551:Olfr203	UTSW	16	59303403	missense	probably benign	0.03
R1701:Olfr203	UTSW	16	59303288	missense	probably benign	0.23
R1975:Olfr203	UTSW	16	59303728	missense	probably damaging	0.98
R2272:Olfr203	UTSW	16	59303444	missense	possibly damaging	0.55
R5199:Olfr203	UTSW	16	59303740	missense	probably benign
R5843:Olfr203	UTSW	16	59303361	missense	probably damaging	1.00
R6708:Olfr203	UTSW	16	59304053	missense	probably damaging	1.00
R6747:Olfr203	UTSW	16	59303641	missense	probably benign	0.03
R6894:Olfr203	UTSW	16	59303779	missense	probably damaging	0.98
R7324:Olfr203	UTSW	16	59303248	missense	probably benign
R7380:Olfr203	UTSW	16	59304028	missense	probably damaging	1.00
R7612:Olfr203	UTSW	16	59303627	missense	probably damaging	1.00
R7775:Olfr203	UTSW	16	59303251	missense	probably damaging	1.00
R8010:Olfr203	UTSW	16	59303504	missense	probably damaging	1.00
R8408:Olfr203	UTSW	16	59304055	nonsense	probably null
R8424:Olfr203	UTSW	16	59303409	missense	possibly damaging	0.60
R8746:Olfr203	UTSW	16	59303610	missense	probably benign	0.03
Z1176:Olfr203	UTSW	16	59303169	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAAACTGAATTGCCCTCAGC -3'
(R):5'- TTAACAAGCATCCTGGGAGTCAC -3'

Sequencing Primer
(F):5'- CAGCTCCTCCTGCATGGC -3'
(R):5'- CATCCTGGGAGTCACTGAGGATG -3'

Posted On

2017-02-28