Mutagenetix > Incidental Mutation

Incidental Mutation 'R5030:Or7e175'

391631

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

042621-MU

Accession Numbers

Essential gene?

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

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20040305-20050059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20049363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 317 (K317M)

Ref Sequence

ENSEMBL: ENSMUSP00000075135 (fasta)

Gene Model

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

AlphaFold

A0A2I3BRV7

Predicted Effect

probably benign
Transcript: ENSMUST00000075717
AA Change: K317M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000075135
Gene: ENSMUSG00000049028
AA Change: K317M

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 benign
Transcript: ENSMUST00000213024
AA Change: K317M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,684,783 (GRCm39)		noncoding transcript	Het
Abca15	A	T	7: 119,939,224 (GRCm39)	E206V	probably damaging	Het
Acy1	A	G	9: 106,310,596 (GRCm39)	F343L	probably benign	Het
Adam22	T	C	5: 8,229,645 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,607,948 (GRCm39)	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,129,102 (GRCm39)	S166P	probably damaging	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Atm	A	T	9: 53,431,409 (GRCm39)	Y316*	probably null	Het
Atp1a1	T	C	3: 101,487,133 (GRCm39)	D892G	probably benign	Het
Auts2	A	G	5: 131,472,336 (GRCm39)	V581A	probably benign	Het
Bltp1	A	G	3: 36,997,548 (GRCm39)		probably benign	Het
Boll	T	A	1: 55,394,894 (GRCm39)	N57I	probably damaging	Het
C1s2	A	C	6: 124,612,547 (GRCm39)	V36G	possibly damaging	Het
Capza1	T	C	3: 104,748,154 (GRCm39)	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,668,950 (GRCm39)	S292P	possibly damaging	Het
Cemip2	T	G	19: 21,819,469 (GRCm39)	F1087V	probably benign	Het
Cyp2g1	T	G	7: 26,520,226 (GRCm39)	V486G	probably benign	Het
Dennd6b	T	A	15: 89,080,454 (GRCm39)	T49S	possibly damaging	Het
Dhx58	A	T	11: 100,586,963 (GRCm39)	I610N	probably damaging	Het
Elapor2	T	A	5: 9,478,502 (GRCm39)	N455K	probably damaging	Het
Fam170a	T	A	18: 50,415,021 (GRCm39)	N222K	probably benign	Het
Fbn1	A	G	2: 125,254,624 (GRCm39)	V213A	possibly damaging	Het
Frem3	A	C	8: 81,339,876 (GRCm39)	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,818,836 (GRCm39)	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,905,351 (GRCm39)	V571A	probably damaging	Het
Gm6124	A	G	7: 38,872,454 (GRCm39)		noncoding transcript	Het
Gm8973	A	G	15: 98,904,136 (GRCm39)		noncoding transcript	Het
Gpd2	A	G	2: 57,194,417 (GRCm39)	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,151,158 (GRCm39)	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,192,426 (GRCm39)	Q4*	probably null	Het
Kalrn	A	G	16: 33,796,112 (GRCm39)	I1221T	probably benign	Het
Klhl9	G	T	4: 88,638,771 (GRCm39)	T490K	possibly damaging	Het
Lnpep	A	G	17: 17,799,571 (GRCm39)	V28A	probably damaging	Het
Lrrc37	G	A	11: 103,425,675 (GRCm39)	P1419S	unknown	Het
Man2c1	A	G	9: 57,047,923 (GRCm39)	H843R	probably benign	Het
Map1b	T	C	13: 99,570,682 (GRCm39)	K680E	unknown	Het
Metap2	A	T	10: 93,715,539 (GRCm39)		probably null	Het
Mfsd2a	A	T	4: 122,843,949 (GRCm39)	I340N	possibly damaging	Het
Mgll	T	C	6: 88,795,647 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,691,998 (GRCm39)		probably benign	Het
Ncapd3	A	T	9: 26,983,062 (GRCm39)	I937F	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Nova1	A	G	12: 46,747,030 (GRCm39)	S416P	probably damaging	Het
Oosp3	T	C	19: 11,678,308 (GRCm39)	W95R	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t26	A	T	11: 49,039,188 (GRCm39)	M35L	probably benign	Het
Or5p76	T	A	7: 108,122,384 (GRCm39)	I258F	possibly damaging	Het
Pcdha7	T	A	18: 37,108,501 (GRCm39)	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,198,207 (GRCm39)	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,494 (GRCm39)	L50*	probably null	Het
Plcl2	G	T	17: 50,914,347 (GRCm39)	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,022,392 (GRCm39)	F131I	possibly damaging	Het
Pwwp3a	T	C	10: 80,076,209 (GRCm39)		probably benign	Het
Rffl	G	A	11: 82,703,543 (GRCm39)	R127*	probably null	Het
Sec24d	T	A	3: 123,152,550 (GRCm39)	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,056,918 (GRCm39)	L1034*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247 (GRCm39)	N95K	possibly damaging	Het
Spag17	C	T	3: 99,992,657 (GRCm39)	Q1718*	probably null	Het
Spdl1	C	T	11: 34,714,267 (GRCm39)	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Supv3l1	G	T	10: 62,266,394 (GRCm39)	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tmem131	T	C	1: 36,866,255 (GRCm39)	N483S	possibly damaging	Het
Tonsl	A	T	15: 76,522,301 (GRCm39)	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,532,305 (GRCm39)	F53S	possibly damaging	Het
Trgv7	G	T	13: 19,362,558 (GRCm39)	L82F	probably damaging	Het
Trim45	T	G	3: 100,835,388 (GRCm39)	V457G	probably damaging	Het
Trpm1	T	A	7: 63,885,579 (GRCm39)	I865N	probably damaging	Het
Trpm3	C	A	19: 22,676,130 (GRCm39)	L99I	probably benign	Het
Twist1	T	A	12: 34,008,440 (GRCm39)	L155Q	probably damaging	Het
Vac14	A	G	8: 111,437,018 (GRCm39)	E577G	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,881 (GRCm39)	V209A	probably benign	Het
Xdh	C	T	17: 74,198,288 (GRCm39)	G1200R	probably damaging	Het
Zbbx	C	T	3: 74,990,990 (GRCm39)	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,725,263 (GRCm39)	T585A	probably benign	Het
Zc3h4	T	A	7: 16,156,155 (GRCm39)	D262E	unknown	Het
Zfp777	G	T	6: 48,014,601 (GRCm39)	D368E	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
R4588:Or7e175	UTSW	9	20,049,383 (GRCm39)	makesense	probably null
R4931:Or7e175	UTSW	9	20,048,858 (GRCm39)	missense	probably benign	0.19
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'- TGATGGATGGTGAACTCGAG -3'

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

Posted On

2016-06-06