Incidental Mutation 'IGL03083:Hpca'
ID417933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpca
Ensembl Gene ENSMUSG00000028785
Gene Namehippocalcin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL03083
Quality Score
Status
Chromosome4
Chromosomal Location129111570-129122036 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 129118526 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 72 (F72L)
Ref Sequence ENSEMBL: ENSMUSP00000129548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000095807] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000125931] [ENSMUST00000135763] [ENSMUST00000139450] [ENSMUST00000149763] [ENSMUST00000164649]
Predicted Effect probably damaging
Transcript: ENSMUST00000030572
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095807
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116442
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116444
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125931
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135763
Predicted Effect probably damaging
Transcript: ENSMUST00000139450
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149763
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164649
AA Change: F72L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785
AA Change: F72L

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Coding Region Coverage
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 member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit an age-dependent increase in neurodegeneration in the hippocampus and the cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Ankrd35 A T 3: 96,684,801 Q801L probably damaging Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nab1 T C 1: 52,490,270 D156G probably benign Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
P2ry1 A G 3: 61,004,315 T292A probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Sult1e1 T A 5: 87,590,124 M33L probably benign Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Vmn1r54 T C 6: 90,269,872 I256T possibly damaging Het
Wdr19 T C 5: 65,230,976 I668T probably benign Het
Other mutations in Hpca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02523:Hpca APN 4 129118575 missense probably damaging 1.00
IGL02893:Hpca APN 4 129118422 missense probably damaging 1.00
IGL03165:Hpca APN 4 129118590 missense probably damaging 1.00
R1840:Hpca UTSW 4 129118600 missense probably damaging 1.00
R2147:Hpca UTSW 4 129118485 missense possibly damaging 0.86
R2372:Hpca UTSW 4 129118444 nonsense probably null
R6265:Hpca UTSW 4 129118652 nonsense probably null
R7237:Hpca UTSW 4 129118614 missense probably damaging 1.00
R7602:Hpca UTSW 4 129120226 intron probably benign
Posted On2016-08-02