Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Or7e175'

397173

Institutional Source

Beutler Lab

Gene Symbol

Or7e175

Ensembl Gene

ENSMUSG00000058491

Gene Name

olfactory receptor family 7 subfamily E member 175

Synonyms

Olfr869, MOR145-6, GA_x6K02T2PVTD-13878275-13879204

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20040305-20050059 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 20049383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 324 (*324K)

Ref Sequence

ENSEMBL: ENSMUSP00000154723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075717] [ENSMUST00000213024]

AlphaFold

A0A2I3BRV7

Predicted Effect

probably null
Transcript: ENSMUST00000075717
AA Change: *324K

SMART Domains

Protein: ENSMUSP00000075135
Gene: ENSMUSG00000049028
AA Change: *324K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	321	6.2e-43	PFAM
Pfam:7TM_GPCR_Srsx	49	309	3e-8	PFAM
Pfam:7tm_1	55	304	1.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212969

Predicted Effect

probably null
Transcript: ENSMUST00000213024
AA Change: *324K

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atrip	A	T	9: 108,889,347 (GRCm39)	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Ctsa	T	C	2: 164,676,070 (GRCm39)	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003 (GRCm39)	H122L	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gcnt3	T	A	9: 69,941,512 (GRCm39)	D352V	probably damaging	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Sstr1	G	T	12: 58,260,417 (GRCm39)	A347S	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	probably damaging	Het

Other mutations in Or7e175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Or7e175	APN	9	20,048,531 (GRCm39)	missense	probably benign
IGL01550:Or7e175	APN	9	20,048,750 (GRCm39)	missense	probably damaging	0.97
IGL02247:Or7e175	APN	9	20,048,516 (GRCm39)	missense	probably benign	0.01
IGL02448:Or7e175	APN	9	20,048,937 (GRCm39)	nonsense	probably null
IGL03076:Or7e175	APN	9	20,049,023 (GRCm39)	missense	probably benign	0.25
R0045:Or7e175	UTSW	9	20,048,487 (GRCm39)	missense	probably benign	0.25
R0962:Or7e175	UTSW	9	20,048,834 (GRCm39)	missense	probably damaging	1.00
R4931:Or7e175	UTSW	9	20,048,858 (GRCm39)	missense	probably benign	0.19
R5030:Or7e175	UTSW	9	20,049,363 (GRCm39)	missense	probably benign	0.01
R5759:Or7e175	UTSW	9	20,049,228 (GRCm39)	missense	probably benign	0.12
R5780:Or7e175	UTSW	9	20,048,793 (GRCm39)	missense	probably damaging	0.98
R6440:Or7e175	UTSW	9	20,048,490 (GRCm39)	missense	probably damaging	1.00
R6599:Or7e175	UTSW	9	20,049,239 (GRCm39)	missense	probably damaging	1.00
R6710:Or7e175	UTSW	9	20,049,378 (GRCm39)	missense	probably benign	0.01
R6953:Or7e175	UTSW	9	20,049,299 (GRCm39)	missense	probably benign	0.00
R7288:Or7e175	UTSW	9	20,048,737 (GRCm39)	nonsense	probably null
R7585:Or7e175	UTSW	9	20,040,307 (GRCm39)
R7860:Or7e175	UTSW	9	20,048,871 (GRCm39)	missense	probably benign	0.16
R8025:Or7e175	UTSW	9	20,048,928 (GRCm39)	missense	probably benign	0.01
R8178:Or7e175	UTSW	9	20,048,571 (GRCm39)	missense	possibly damaging	0.94
R8794:Or7e175	UTSW	9	20,048,630 (GRCm39)	missense	possibly damaging	0.94
R8954:Or7e175	UTSW	9	20,048,664 (GRCm39)	missense	probably damaging	1.00
R9116:Or7e175	UTSW	9	20,048,633 (GRCm39)	missense	probably damaging	1.00
R9162:Or7e175	UTSW	9	20,040,457 (GRCm39)	missense	probably benign	0.00
R9269:Or7e175	UTSW	9	20,048,757 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTCTCACCTGTCAGTTG -3'
(R):5'- ATGGATGGTGAACTCGAGTG -3'

Sequencing Primer
(F):5'- GGTCTCACCTGTCAGTTGTTTGC -3'
(R):5'- GTAGTAGAATGAAAGCCACA -3'

Posted On

2016-06-27