Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Xpr1'

323147

Institutional Source

Beutler Lab

Gene Symbol

Xpr1

Ensembl Gene

ENSMUSG00000026469

Gene Name

xenotropic and polytropic retrovirus receptor 1

Synonyms

suppressor of yeast G deletion, Rmc1, Rmc-1, Syg1

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R4293 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155151447-155293161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155188542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 366 (F366S)

Ref Sequence

ENSEMBL: ENSMUSP00000107404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]

AlphaFold

Q9Z0U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027741
AA Change: F366S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: F366S

Domain	Start	End	E-Value	Type
Pfam:SPX	1	174	1.4e-33	PFAM
transmembrane domain	235	257	N/A	INTRINSIC
Pfam:EXS	268	616	5.8e-96	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111774
AA Change: F366S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: F366S

Domain	Start	End	E-Value	Type
Pfam:SPX	1	176	1.5e-38	PFAM
transmembrane domain	235	257	N/A	INTRINSIC
Pfam:EXS	267	617	2.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111775
AA Change: F366S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: F366S

Domain	Start	End	E-Value	Type
Pfam:SPX	1	176	4.5e-39	PFAM
transmembrane domain	235	257	N/A	INTRINSIC
Pfam:EXS	267	434	3.6e-45	PFAM
Pfam:EXS	432	552	3.6e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175545

Meta Mutation Damage Score

0.4435

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes and heterozygotes for a variant from some wild Mus stocks, including M. spretus, support replication of xenotropic murine leukemia viruses and mink cell focus-forming murine leukemia viruses that are not replicated in most laboratory strains. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,824,171 (GRCm39)	D164G	probably damaging	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Xpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Xpr1	APN	1	155,165,980 (GRCm39)	missense	probably benign	0.00
IGL02657:Xpr1	APN	1	155,166,026 (GRCm39)	missense	probably benign	0.05
IGL03077:Xpr1	APN	1	155,156,774 (GRCm39)	missense	possibly damaging	0.58
R0019:Xpr1	UTSW	1	155,208,145 (GRCm39)	splice site	probably benign
R0350:Xpr1	UTSW	1	155,206,214 (GRCm39)	missense	probably damaging	1.00
R1299:Xpr1	UTSW	1	155,292,949 (GRCm39)	missense	probably damaging	0.99
R1855:Xpr1	UTSW	1	155,159,002 (GRCm39)	missense	probably benign
R2008:Xpr1	UTSW	1	155,156,775 (GRCm39)	splice site	probably null
R2071:Xpr1	UTSW	1	155,166,026 (GRCm39)	missense	probably benign	0.05
R4509:Xpr1	UTSW	1	155,165,907 (GRCm39)	intron	probably benign
R5060:Xpr1	UTSW	1	155,204,430 (GRCm39)	critical splice acceptor site	probably null
R5527:Xpr1	UTSW	1	155,165,981 (GRCm39)	missense	probably benign
R5586:Xpr1	UTSW	1	155,188,609 (GRCm39)	missense	probably benign
R5860:Xpr1	UTSW	1	155,207,868 (GRCm39)	intron	probably benign
R7565:Xpr1	UTSW	1	155,183,488 (GRCm39)	missense	probably benign
R7729:Xpr1	UTSW	1	155,188,618 (GRCm39)	missense	probably benign
R7976:Xpr1	UTSW	1	155,166,035 (GRCm39)	missense	possibly damaging	0.62
R7985:Xpr1	UTSW	1	155,188,641 (GRCm39)	missense	possibly damaging	0.56
R8330:Xpr1	UTSW	1	155,189,001 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATCCATCAGAAGCACCTGC -3'
(R):5'- CATCTCCCATTTGAGGATTGTTGG -3'

Sequencing Primer
(F):5'- CTCCTGAAGCTGGGACCACTC -3'
(R):5'- CCCATTTGAGGATTGTTGGATTGTTC -3'

Posted On

2015-06-20