Incidental Mutation 'R8996:Lhpp'
ID 684724
Institutional Source Beutler Lab
Gene Symbol Lhpp
Ensembl Gene ENSMUSG00000030946
Gene Name phospholysine phosphohistidine inorganic pyrophosphate phosphatase
Synonyms 2310007H09Rik
MMRRC Submission 068827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R8996 (G1)
Quality Score 180.009
Status Validated
Chromosome 7
Chromosomal Location 132212367-132308149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132212484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000033241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096] [ENSMUST00000148669]
AlphaFold Q9D7I5
Predicted Effect probably damaging
Transcript: ENSMUST00000033241
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: D17G

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: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
Predicted Effect probably damaging
Transcript: ENSMUST00000148669
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,769,069 (GRCm39) I764V probably benign Het
Adgrv1 GTT GT 13: 81,553,457 (GRCm39) probably null Het
Alcam T C 16: 52,126,114 (GRCm39) I68V probably benign Het
Atp8b2 A G 3: 89,850,696 (GRCm39) L75P probably damaging Het
B3gnt6 T C 7: 97,842,799 (GRCm39) N387S probably benign Het
Btn2a2 T C 13: 23,662,831 (GRCm39) E373G probably damaging Het
Cfap65 G A 1: 74,941,347 (GRCm39) H1831Y probably benign Het
Cftr T A 6: 18,255,945 (GRCm39) C564* probably null Het
Chd6 A G 2: 160,823,543 (GRCm39) W1276R probably damaging Het
Csmd1 T C 8: 15,971,105 (GRCm39) E3070G possibly damaging Het
Cxcr4 A G 1: 128,517,538 (GRCm39) I41T possibly damaging Het
Dnhd1 T A 7: 105,323,242 (GRCm39) N583K probably damaging Het
Fignl1 G T 11: 11,752,953 (GRCm39) P34Q probably damaging Het
Frg2f1 T C 4: 119,388,085 (GRCm39) D138G probably damaging Het
Gabra4 A T 5: 71,729,046 (GRCm39) M578K possibly damaging Het
Gnb5 T C 9: 75,251,805 (GRCm39) V351A probably benign Het
H2-Ob A T 17: 34,462,531 (GRCm39) I245F probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Igkv4-54 A T 6: 69,608,774 (GRCm39) Y48* probably null Het
Kdm7a A C 6: 39,129,786 (GRCm39) H463Q probably benign Het
L3mbtl4 A G 17: 68,769,997 (GRCm39) T256A probably benign Het
Mis18bp1 C T 12: 65,180,632 (GRCm39) V950I probably benign Het
Mms22l T A 4: 24,598,884 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,630,945 (GRCm39) T219A probably benign Het
Nptx1 G A 11: 119,438,394 (GRCm39) R8C unknown Het
Plcxd1 A G 5: 110,250,444 (GRCm39) T262A probably benign Het
Sf1 G A 19: 6,426,441 (GRCm39) G221S Het
Shkbp1 A G 7: 27,042,844 (GRCm39) V531A possibly damaging Het
Slc12a3 A T 8: 95,056,063 (GRCm39) E66D probably benign Het
Slc14a1 A T 18: 78,156,911 (GRCm39) I198K possibly damaging Het
Spag8 T C 4: 43,651,998 (GRCm39) E362G probably damaging Het
Speer4c1 T A 5: 15,915,886 (GRCm39) I161L probably benign Het
Stk3 A G 15: 34,945,208 (GRCm39) S427P possibly damaging Het
Stt3b T C 9: 115,073,065 (GRCm39) K814E unknown Het
Synpo T A 18: 60,737,230 (GRCm39) I239F possibly damaging Het
Tcf7l1 G T 6: 72,765,563 (GRCm39) R97S possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,887,247 (GRCm39) Y56N probably benign Het
Ttc39c A G 18: 12,820,136 (GRCm39) N112S probably benign Het
Usp14 T C 18: 10,000,521 (GRCm39) K380E probably benign Het
Usp17lb C T 7: 104,490,889 (GRCm39) A13T probably benign Het
Usp4 G A 9: 108,268,909 (GRCm39) R921H probably damaging Het
Xndc1 A G 7: 101,722,518 (GRCm39) D61G probably damaging Het
Zfp1006 G A 8: 129,946,016 (GRCm39) P270S possibly damaging Het
Other mutations in Lhpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Lhpp APN 7 132,244,249 (GRCm39) missense probably damaging 1.00
IGL02695:Lhpp APN 7 132,252,063 (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
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
Predicted Primers PCR Primer
(F):5'- GGTTTGAACTCCTTCCGCAG -3'
(R):5'- TGGAGCTAGCACTCGAGAAG -3'

Sequencing Primer
(F):5'- TTCCTGATAGTCAAGCGTCAGGC -3'
(R):5'- CTAGCACTCGAGAAGGCGGAG -3'
Posted On 2021-10-11