Incidental Mutation 'R2889:Phex'
| ID |
260047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phex
|
| Ensembl Gene |
ENSMUSG00000057457 |
| Gene Name |
phosphate regulating endopeptidase homolog, X-linked |
| Synonyms |
HPDR1 |
| MMRRC Submission |
040477-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R2889 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
155945071-156198282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156093954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 439
(I439V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079945]
[ENSMUST00000138396]
|
| AlphaFold |
P70669 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079945
AA Change: I439V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078863
Gene: ENSMUSG00000057457
AA Change: I439V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
77 |
479 |
6.1e-95 |
PFAM |
|
Pfam:Peptidase_M13
|
538 |
748 |
3.5e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138396
AA Change: I439V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000122953
Gene: ENSMUSG00000057457
AA Change: I439V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
77 |
479 |
4.2e-116 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,872,294 (GRCm39) |
M316K |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Ankrd6 |
C |
A |
4: 32,818,704 (GRCm39) |
L207F |
probably damaging |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,836,165 (GRCm39) |
K725R |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,472,526 (GRCm39) |
D879V |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Msantd3 |
T |
C |
4: 48,552,494 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,641,600 (GRCm39) |
I468T |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,589,784 (GRCm39) |
I71F |
probably benign |
Het |
| Or6z3 |
T |
A |
7: 6,463,940 (GRCm39) |
V144D |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,536,276 (GRCm39) |
V757F |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,906,995 (GRCm39) |
H5000N |
unknown |
Het |
| Pmfbp1 |
T |
C |
8: 110,252,063 (GRCm39) |
Y403H |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Rsrc2 |
A |
T |
5: 123,874,620 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,778,166 (GRCm39) |
D2110G |
possibly damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,787 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,630,699 (GRCm39) |
T1067I |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,862 (GRCm39) |
L218P |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
probably benign |
Het |
| Zfy1 |
G |
A |
Y: 726,307 (GRCm39) |
T486I |
possibly damaging |
Het |
|
| Other mutations in Phex |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Phex
|
APN |
X |
155,960,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Phex
|
APN |
X |
156,051,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Phex
|
APN |
X |
155,969,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Phex
|
APN |
X |
155,966,823 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03214:Phex
|
APN |
X |
155,960,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03218:Phex
|
APN |
X |
155,961,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Phex
|
UTSW |
X |
155,969,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Phex
|
UTSW |
X |
155,969,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Phex
|
UTSW |
X |
156,155,557 (GRCm39) |
splice site |
probably benign |
|
|
R2888:Phex
|
UTSW |
X |
156,093,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2890:Phex
|
UTSW |
X |
156,093,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Phex
|
UTSW |
X |
156,192,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTGGGGTCATTTGGAAAC -3'
(R):5'- AACTTGTACTGTCACCACCTTG -3'
Sequencing Primer
(F):5'- CTTCCATCCAAAGAAGTCCT -3'
(R):5'- ACCACCTTGCATCATCTGTTTACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation