Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Or52x1'

384600

Institutional Source

Beutler Lab

Gene Symbol

Or52x1

Ensembl Gene

ENSMUSG00000048425

Gene Name

olfactory receptor family 52 subfamily X member 1

Synonyms

MOR35-1, Olfr686, GA_x6K02T2PBJ9-7832633-7831680

MMRRC Submission

042573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104852595-104853548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104853398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 51 (I51V)

Ref Sequence

ENSEMBL: ENSMUSP00000148898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050157] [ENSMUST00000214147] [ENSMUST00000216143] [ENSMUST00000216613]

AlphaFold

Q8VGX3

Predicted Effect

probably benign
Transcript: ENSMUST00000050157
AA Change: I51V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: I51V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	8e-92	PFAM
Pfam:7TM_GPCR_Srsx	37	229	3e-9	PFAM
Pfam:7tm_1	43	294	9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214147
AA Change: I51V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216143
AA Change: I51V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216613
AA Change: I51V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adam39	T	C	8: 41,278,374 (GRCm39)	I255T	possibly damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Hcls1	T	C	16: 36,758,222 (GRCm39)	W38R	probably damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Limk2	G	T	11: 3,359,069 (GRCm39)		probably benign	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Umodl1	T	C	17: 31,205,055 (GRCm39)	I550T	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	Het

Other mutations in Or52x1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01580:Or52x1	APN	7	104,853,113 (GRCm39)	missense	probably benign	0.01
R0112:Or52x1	UTSW	7	104,852,866 (GRCm39)	missense	probably benign	0.05
R0234:Or52x1	UTSW	7	104,852,821 (GRCm39)	missense	probably damaging	1.00
R0234:Or52x1	UTSW	7	104,852,821 (GRCm39)	missense	probably damaging	1.00
R0541:Or52x1	UTSW	7	104,853,367 (GRCm39)	missense	probably damaging	0.99
R0771:Or52x1	UTSW	7	104,853,368 (GRCm39)	missense	possibly damaging	0.91
R3944:Or52x1	UTSW	7	104,853,162 (GRCm39)	nonsense	probably null
R4079:Or52x1	UTSW	7	104,853,228 (GRCm39)	missense	probably damaging	1.00
R4929:Or52x1	UTSW	7	104,853,232 (GRCm39)	missense	probably damaging	1.00
R6267:Or52x1	UTSW	7	104,852,599 (GRCm39)	missense	probably damaging	1.00
R6302:Or52x1	UTSW	7	104,852,926 (GRCm39)	missense	probably damaging	1.00
R6483:Or52x1	UTSW	7	104,853,500 (GRCm39)	missense	probably benign
R7787:Or52x1	UTSW	7	104,853,252 (GRCm39)	nonsense	probably null
R7804:Or52x1	UTSW	7	104,853,367 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGATAGCCACAAATCGGTCC -3'
(R):5'- TGTGTGGGAGAGCAACTATG -3'

Sequencing Primer
(F):5'- AATCGGTCCAAGGCCATG -3'
(R):5'- GCTGCCCATGTTTGGATA -3'

Posted On

2016-05-10