Incidental Mutation 'R2888:Phex'
ID 260019
Institutional Source Beutler Lab
Gene Symbol Phex
Ensembl Gene ENSMUSG00000057457
Gene Name phosphate regulating endopeptidase homolog, X-linked
Synonyms HPDR1
MMRRC Submission 040476-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R2888 (G1)
Quality Score 222
Status 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:Peptidase_M13_N 77 479 4.2e-116 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik A T X: 77,414,288 (GRCm39) I338F probably damaging Het
Acd A G 8: 106,425,470 (GRCm39) S288P probably benign Het
Aimp2 T C 5: 143,846,553 (GRCm39) probably benign Het
Atp8b2 T C 3: 89,865,600 (GRCm39) D100G probably damaging Het
Cacna1i A T 15: 80,258,968 (GRCm39) I1226F probably damaging Het
Dsp C A 13: 38,376,224 (GRCm39) N1336K possibly damaging Het
Extl2 T C 3: 115,820,906 (GRCm39) F251S probably damaging Het
Gusb T C 5: 130,029,343 (GRCm39) H146R probably damaging Het
Itpr2 C T 6: 146,072,791 (GRCm39) G2380S probably damaging Het
Kansl1l T C 1: 66,763,764 (GRCm39) K762E probably benign Het
Krtap4-9 C A 11: 99,676,245 (GRCm39) C55* probably null Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Llcfc1 A T 6: 41,661,537 (GRCm39) K29M probably damaging Het
Malrd1 A T 2: 16,079,568 (GRCm39) I1762F unknown Het
Muc5b G A 7: 141,415,291 (GRCm39) V2746M probably damaging Het
Mug1 T A 6: 121,858,802 (GRCm39) D1173E probably benign Het
Myo5b G C 18: 74,895,689 (GRCm39) E1782Q probably damaging Het
Or2t46 T C 11: 58,471,988 (GRCm39) F106S possibly damaging Het
Pcdha5 A G 18: 37,094,940 (GRCm39) D483G probably damaging Het
Pkd1l1 T A 11: 8,897,251 (GRCm39) S103C probably damaging Het
Plekha4 C T 7: 45,187,668 (GRCm39) R176C probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Pramel23 G T 4: 143,423,460 (GRCm39) T443K probably benign Het
Prol1 C A 5: 88,476,168 (GRCm39) A186E unknown Het
Rbm39 C T 2: 156,009,503 (GRCm39) R123H probably benign Het
Rtn4 T C 11: 29,643,687 (GRCm39) S167P probably damaging Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Smoc2 T C 17: 14,617,887 (GRCm39) probably null Het
Sptbn2 A G 19: 4,798,664 (GRCm39) T1998A possibly damaging Het
Tbc1d5 T A 17: 51,242,577 (GRCm39) E173D probably damaging Het
Tsc2 A G 17: 24,850,969 (GRCm39) probably null Het
Umps A T 16: 33,784,240 (GRCm39) V71E 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
Zfp511 A C 7: 139,619,295 (GRCm39) D204A probably benign Het
Other mutations in Phex
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2889: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