Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Xpr1'

438690

Institutional Source

Beutler Lab

Gene Symbol

Xpr1

Ensembl Gene

ENSMUSG00000026469

Gene Name

xenotropic and polytropic retrovirus receptor 1

Synonyms

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

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155275701-155417415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155312863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 344 (I344V)

Ref Sequence

ENSEMBL: ENSMUSP00000107405 (fasta)

Gene Model

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

AlphaFold

Q9Z0U0

Predicted Effect

probably benign
Transcript: ENSMUST00000027741
AA Change: I344V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: I344V

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

probably benign
Transcript: ENSMUST00000111774
AA Change: I344V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: I344V

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: I344V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: I344V

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Xpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Xpr1	APN	1	155290234	missense	probably benign	0.00
IGL02657:Xpr1	APN	1	155290280	missense	probably benign	0.05
IGL03077:Xpr1	APN	1	155281028	missense	possibly damaging	0.58
R0019:Xpr1	UTSW	1	155332399	splice site	probably benign
R0350:Xpr1	UTSW	1	155330468	missense	probably damaging	1.00
R1299:Xpr1	UTSW	1	155417203	missense	probably damaging	0.99
R1855:Xpr1	UTSW	1	155283256	missense	probably benign
R2008:Xpr1	UTSW	1	155281029	splice site	probably null
R2071:Xpr1	UTSW	1	155290280	missense	probably benign	0.05
R4293:Xpr1	UTSW	1	155312796	missense	possibly damaging	0.91
R4509:Xpr1	UTSW	1	155290161	intron	probably benign
R5060:Xpr1	UTSW	1	155328684	critical splice acceptor site	probably null
R5527:Xpr1	UTSW	1	155290235	missense	probably benign
R5860:Xpr1	UTSW	1	155332122	intron	probably benign
R7565:Xpr1	UTSW	1	155307742	missense	probably benign
R7729:Xpr1	UTSW	1	155312872	missense	probably benign
R7976:Xpr1	UTSW	1	155290289	missense	possibly damaging	0.62
R7985:Xpr1	UTSW	1	155312895	missense	possibly damaging	0.56
R8330:Xpr1	UTSW	1	155313255	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAGGCTGTGCAATCCAG -3'
(R):5'- GTCCATCTCCCATTTGAGGATTG -3'

Sequencing Primer
(F):5'- AATCCAGCAGCCGTGTGTG -3'
(R):5'- CTCCCATTTGAGGATTGTTGGATTG -3'

Posted On

2016-10-26