Incidental Mutation 'IGL02695:Lhpp'
ID 303903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhpp
Ensembl Gene ENSMUSG00000030946
Gene Name phospholysine phosphohistidine inorganic pyrophosphate phosphatase
Synonyms 2310007H09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # IGL02695
Quality Score
Status
Chromosome 7
Chromosomal Location 132212367-132308149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132252063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 234 (R234Q)
Ref Sequence ENSEMBL: ENSMUSP00000147970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096]
AlphaFold Q9D7I5
Predicted Effect probably damaging
Transcript: ENSMUST00000033241
AA Change: R234Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: R234Q

DomainStartEndE-ValueType
Pfam:Hydrolase 11 227 1.1e-8 PFAM
Pfam:Hydrolase_6 14 116 4.4e-17 PFAM
Pfam:HAD_2 159 233 3.4e-9 PFAM
Pfam:Hydrolase_like 186 260 9.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106170
AA Change: R234Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210168
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,287,929 (GRCm39) M389K probably benign Het
Adamts4 C A 1: 171,080,203 (GRCm39) T252K probably damaging Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fam83c T C 2: 155,673,435 (GRCm39) D251G probably benign Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or2d4 A G 7: 106,543,870 (GRCm39) S113P possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stil G T 4: 114,873,372 (GRCm39) V332F probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign Het
Other mutations in Lhpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Lhpp APN 7 132,244,249 (GRCm39) missense probably damaging 1.00
IGL03220:Lhpp APN 7 132,252,020 (GRCm39) missense probably benign 0.02
R0105:Lhpp UTSW 7 132,232,254 (GRCm39) missense probably damaging 0.99
R0200:Lhpp UTSW 7 132,212,406 (GRCm39) start gained probably benign
R0463:Lhpp UTSW 7 132,212,406 (GRCm39) start gained probably benign
R1103:Lhpp UTSW 7 132,212,484 (GRCm39) missense probably damaging 1.00
R1872:Lhpp UTSW 7 132,235,816 (GRCm39) missense probably benign 0.24
R4816:Lhpp UTSW 7 132,272,104 (GRCm39) nonsense probably null
R5140:Lhpp UTSW 7 132,307,361 (GRCm39) missense probably damaging 0.99
R5799:Lhpp UTSW 7 132,307,364 (GRCm39) missense probably damaging 1.00
R6816:Lhpp UTSW 7 132,235,762 (GRCm39) missense probably benign 0.01
R8503:Lhpp UTSW 7 132,307,406 (GRCm39) missense probably benign
R8738:Lhpp UTSW 7 132,243,261 (GRCm39) missense probably damaging 1.00
R8996:Lhpp UTSW 7 132,212,484 (GRCm39) missense probably damaging 1.00
R9108:Lhpp UTSW 7 132,252,018 (GRCm39) missense probably damaging 1.00
R9474:Lhpp UTSW 7 132,243,312 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16