Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Olfr726'

326434

Institutional Source

Beutler Lab

Gene Symbol

Olfr726

Ensembl Gene

ENSMUSG00000060523

Gene Name

olfactory receptor 726

Synonyms

MOR246-4, GA_x6K02T2PMLR-5775299-5774334

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50083570-50090953 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50084603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 26 (F26S)

Ref Sequence

ENSEMBL: ENSMUSP00000149373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072370] [ENSMUST00000206834] [ENSMUST00000213345] [ENSMUST00000215105] [ENSMUST00000215278] [ENSMUST00000217025] [ENSMUST00000217319] [ENSMUST00000217422]

AlphaFold

E9Q8X3

Predicted Effect

probably benign
Transcript: ENSMUST00000072370
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: F26S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	288	5.4e-8	PFAM
Pfam:7tm_1	41	287	7.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205951
AA Change: F26S

Predicted Effect

probably benign
Transcript: ENSMUST00000206834
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213345
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215105
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215278
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217025
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217319
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217422
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Bmp7	T	G	2: 172,916,542	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lhx4	A	G	1: 155,710,134	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	Het

Other mutations in Olfr726

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Olfr726	APN	14	50083997	missense	probably benign	0.00
IGL01432:Olfr726	APN	14	50083947	missense	probably benign	0.07
IGL01788:Olfr726	APN	14	50084502	missense	probably damaging	1.00
IGL01957:Olfr726	APN	14	50084280	missense	probably benign	0.00
IGL02132:Olfr726	APN	14	50084486	missense	probably damaging	1.00
R0611:Olfr726	UTSW	14	50083853	missense	probably damaging	1.00
R0689:Olfr726	UTSW	14	50084232	missense	probably benign	0.01
R1556:Olfr726	UTSW	14	50084459	missense	possibly damaging	0.90
R1710:Olfr726	UTSW	14	50084370	missense	probably benign	0.01
R1791:Olfr726	UTSW	14	50084042	missense	probably benign	0.03
R1804:Olfr726	UTSW	14	50083902	missense	probably damaging	0.99
R1853:Olfr726	UTSW	14	50084120	missense	probably damaging	1.00
R2034:Olfr726	UTSW	14	50083983	missense	probably benign	0.34
R3155:Olfr726	UTSW	14	50084525	missense	probably benign	0.09
R3156:Olfr726	UTSW	14	50084525	missense	probably benign	0.09
R3939:Olfr726	UTSW	14	50083716	makesense	probably null
R4533:Olfr726	UTSW	14	50083699	splice site	probably null
R4694:Olfr726	UTSW	14	50084019	missense	probably benign
R5183:Olfr726	UTSW	14	50084546	missense	probably damaging	0.99
R5859:Olfr726	UTSW	14	50084027	missense	probably damaging	1.00
R6186:Olfr726	UTSW	14	50084525	missense	probably damaging	0.98
R6357:Olfr726	UTSW	14	50083989	missense	probably damaging	0.99
R6771:Olfr726	UTSW	14	50083989	missense	probably damaging	0.99
R6834:Olfr726	UTSW	14	50084228	missense	probably damaging	0.99
R6924:Olfr726	UTSW	14	50083850	missense	possibly damaging	0.91
R7953:Olfr726	UTSW	14	50083910	missense	possibly damaging	0.53
R8043:Olfr726	UTSW	14	50083910	missense	possibly damaging	0.53
R8255:Olfr726	UTSW	14	50083872	missense	noncoding transcript
R9444:Olfr726	UTSW	14	50084412	missense

Predicted Primers

PCR Primer
(F):5'- AGTCAGCAAGCATTTTGGGG -3'
(R):5'- ACTAGCATTCCCTGATTAAGGC -3'

Sequencing Primer
(F):5'- CAGCAAGCATTTTGGGGGTAGC -3'
(R):5'- CTGTGGAAAGATGAACTGTGAC -3'

Posted On

2015-07-06