Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Or7e174'

345724

Institutional Source

Beutler Lab

Gene Symbol

Or7e174

Ensembl Gene

ENSMUSG00000044106

Gene Name

olfactory receptor family 7 subfamily E member 174

Synonyms

MOR145-4, GA_x6K02T2PVTD-13841888-13842802, Olfr868

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20009922-20012986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20012540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 162 (H162N)

Ref Sequence

ENSEMBL: ENSMUSP00000148302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000212767] [ENSMUST00000212999]

AlphaFold

Q8VFI8

Predicted Effect

probably benign
Transcript: ENSMUST00000050227
AA Change: H162N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050040
Gene: ENSMUSG00000044106
AA Change: H162N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	309	3.4e-50	PFAM
Pfam:7TM_GPCR_Srsx	38	288	3.6e-7	PFAM
Pfam:7tm_1	44	293	4.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212767
AA Change: H162N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212999
AA Change: H162N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215566

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clec14a	C	T	12: 58,314,767 (GRCm39)	R285H	probably benign	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phactr1	A	T	13: 43,248,441 (GRCm39)	E463D	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

Other mutations in Or7e174

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02647:Or7e174	APN	9	20,012,505 (GRCm39)	missense	probably benign	0.02
IGL03080:Or7e174	APN	9	20,012,705 (GRCm39)	missense	probably damaging	0.99
R0421:Or7e174	UTSW	9	20,012,771 (GRCm39)	missense	probably damaging	1.00
R0422:Or7e174	UTSW	9	20,012,744 (GRCm39)	nonsense	probably null
R1108:Or7e174	UTSW	9	20,012,121 (GRCm39)	missense	probably benign	0.01
R1386:Or7e174	UTSW	9	20,012,878 (GRCm39)	missense	probably benign	0.09
R1693:Or7e174	UTSW	9	20,012,883 (GRCm39)	missense	probably benign	0.21
R1732:Or7e174	UTSW	9	20,012,796 (GRCm39)	missense	probably damaging	1.00
R2006:Or7e174	UTSW	9	20,012,165 (GRCm39)	missense	probably benign	0.03
R4556:Or7e174	UTSW	9	20,012,619 (GRCm39)	missense	possibly damaging	0.63
R5125:Or7e174	UTSW	9	20,012,488 (GRCm39)	nonsense	probably null
R5178:Or7e174	UTSW	9	20,012,488 (GRCm39)	nonsense	probably null
R7324:Or7e174	UTSW	9	20,012,726 (GRCm39)	missense	possibly damaging	0.83
R7358:Or7e174	UTSW	9	20,012,169 (GRCm39)	missense	probably damaging	1.00
R7536:Or7e174	UTSW	9	20,012,826 (GRCm39)	missense	probably damaging	0.99
R7539:Or7e174	UTSW	9	20,012,915 (GRCm39)	missense	probably benign	0.12
R7572:Or7e174	UTSW	9	20,012,154 (GRCm39)	missense	probably damaging	1.00
R7946:Or7e174	UTSW	9	20,012,780 (GRCm39)	missense	probably damaging	1.00
R8805:Or7e174	UTSW	9	20,012,580 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTCATATCCTACGTGGGCTG -3'
(R):5'- TCCCACTTGAAGAGGTGATTCTC -3'

Sequencing Primer
(F):5'- GGCTGCCTCACTCAGATGTC -3'
(R):5'- ACTTGAAGAGGTGATTCTCAGAATAG -3'

Posted On

2015-09-25