Incidental Mutation 'IGL03077:Xpr1'
| ID |
417711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpr1
|
| Ensembl Gene |
ENSMUSG00000026469 |
| Gene Name |
xenotropic and polytropic retrovirus receptor 1 |
| Synonyms |
suppressor of yeast G deletion, Rmc1, Rmc-1, Syg1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.804)
|
| Stock # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155151447-155293161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155156774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 625
(D625E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027741]
[ENSMUST00000111774]
[ENSMUST00000111775]
|
| AlphaFold |
Q9Z0U0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027741
AA Change: D690E
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: D690E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
| 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 |
possibly damaging
Transcript: ENSMUST00000111775
AA Change: D625E
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: D625E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
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 |
|
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 |
|
R4293:Xpr1
|
UTSW |
1 |
155,188,542 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation