Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:Or52x1'

49908

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

038733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104852595-104853548 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104853367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 61 (M61K)

Ref Sequence

ENSEMBL: ENSMUSP00000148898 (fasta)

Gene Model

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

AlphaFold

Q8VGX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000050157
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: M61K

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 damaging
Transcript: ENSMUST00000214147
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216143
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216613
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
C2cd2	T	C	16: 97,723,496 (GRCm39)	E7G	possibly damaging	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,084,401 (GRCm39)		probably benign	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,762,767 (GRCm39)	H229N	probably damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Nelfb	A	T	2: 25,093,992 (GRCm39)	D385E	probably benign	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Oxa1l	A	G	14: 54,605,646 (GRCm39)	E375G	possibly damaging	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly damaging	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
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
R4978:Or52x1	UTSW	7	104,853,398 (GRCm39)	missense	probably benign	0.02
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'- GCAACAACTTCAGGCGTAAGGATGG -3'
(R):5'- CTGTAAGGCAAAAGTGATGTGGTGC -3'

Sequencing Primer
(F):5'- TGGGTTACAGATAGCCACAAATC -3'
(R):5'- GTGAGACCATACAACCTGACTTTC -3'

Posted On

2013-06-12