Incidental Mutation 'R5060:Xpr1'
| ID |
386541 |
| 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 |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.804)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155151447-155293161 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 155204430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027741]
[ENSMUST00000111774]
[ENSMUST00000111775]
[ENSMUST00000111775]
|
| AlphaFold |
Q9Z0U0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027741
|
| SMART Domains |
Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
| 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 null
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 |
probably null
Transcript: ENSMUST00000111775
|
| SMART Domains |
Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
| 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 |
probably null
Transcript: ENSMUST00000111775
|
| SMART Domains |
Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
| 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: ENSMUST00000129271
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
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 |
|
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 |
|
|
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'- CTGCAGGAAAGCTCAATTTGAC -3'
(R):5'- TGGCTTAGAGTACCTATGCTCC -3'
Sequencing Primer
(F):5'- GCCCTGAATGAATGGTTATCTTGCC -3'
(R):5'- GCTGGGAATTAAACTCATGGCCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation