Incidental Mutation 'IGL01970:Xpr1'
| ID |
182535 |
| 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 # |
IGL01970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155151447-155293161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155165980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 524
(N524S)
|
| 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: N589S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: N589S
| 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: N589S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: N589S
| 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: N524S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: N524S
| 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: ENSMUST00000192359
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
| Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
| Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
| Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
| Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
| Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
| Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
|
| Other mutations in Xpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation