Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Or7e174'

649362

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

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20009922-20012986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20012780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000148634 (fasta)

Gene Model

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

AlphaFold

Q8VFI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000212767
AA Change: S242P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212999
AA Change: S242P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		Het

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
R4602:Or7e174	UTSW	9	20,012,540 (GRCm39)	missense	probably benign	0.07
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
R8805:Or7e174	UTSW	9	20,012,580 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGCTTCACAATTTGGTTGCC -3'
(R):5'- TGGAGCCTTTTAAGGGAATCAC -3'

Sequencing Primer
(F):5'- GTTTCAAAGATGTGGCAATTGC -3'
(R):5'- GGGAATCACTAATGTCCTGATTCC -3'

Posted On

2020-09-15