Incidental Mutation 'R6265:Hpca'
ID506931
Institutional Source Beutler Lab
Gene Symbol Hpca
Ensembl Gene ENSMUSG00000028785
Gene Namehippocalcin
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #R6265 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location129111570-129122036 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 129118652 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 30 (W30*)
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 null
Transcript: ENSMUST00000030572
AA Change: W30*
SMART Domains Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000095807
AA Change: W30*
SMART Domains Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000116442
AA Change: W30*
SMART Domains Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000116444
AA Change: W30*
SMART Domains Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000125931
AA Change: W30*
SMART Domains Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000135763
AA Change: W30*
Predicted Effect probably null
Transcript: ENSMUST00000139450
AA Change: W30*
SMART Domains Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785
AA Change: W30*

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 null
Transcript: ENSMUST00000149763
AA Change: W30*
SMART Domains Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785
AA Change: W30*

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164649
AA Change: W30*
SMART Domains Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785
AA Change: W30*

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,454,675 P47L probably damaging Het
Acot1 T C 12: 84,016,913 I265T probably benign Het
Amotl1 T C 9: 14,571,655 D587G possibly damaging Het
Anks1b T G 10: 90,941,500 D1117E probably damaging Het
Art4 T G 6: 136,854,888 N85T probably damaging Het
Asb3 C A 11: 31,085,143 Q462K probably benign Het
Atcay C T 10: 81,213,280 E163K possibly damaging Het
Atp6v0e T C 17: 26,676,533 V20A possibly damaging Het
Atp7b G A 8: 22,015,927 Q520* probably null Het
Baat A T 4: 49,502,836 D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,529,599 probably null Het
Ccdc24 G A 4: 117,871,177 Q47* probably null Het
Cep170b C A 12: 112,744,559 Q1488K probably damaging Het
Cldn24 A C 8: 47,822,339 D66A probably benign Het
Cln5 C A 14: 103,073,227 T110K probably damaging Het
Clvs2 C A 10: 33,528,515 S235I possibly damaging Het
Col5a3 C T 9: 20,793,764 G730R unknown Het
Crim1 C T 17: 78,370,085 P905L probably benign Het
Cxxc4 T C 3: 134,258,063 V356A probably benign Het
Dctn6 G T 8: 34,094,903 N93K probably damaging Het
Dnah9 G A 11: 66,168,094 A125V probably benign Het
Dnhd1 T C 7: 105,693,370 I1307T probably benign Het
Dpy19l1 T A 9: 24,432,371 I493F possibly damaging Het
Ebf2 A G 14: 67,424,060 I546V probably benign Het
Fbll1 T C 11: 35,797,809 E209G probably damaging Het
Foxj2 G A 6: 122,828,174 A2T probably damaging Het
Foxs1 A T 2: 152,932,178 C318* probably null Het
Gorab T C 1: 163,386,630 T244A possibly damaging Het
Gtsf1l C A 2: 163,087,663 probably benign Het
Herc1 T C 9: 66,372,016 S69P probably benign Het
Ing3 C A 6: 21,953,814 Q85K probably damaging Het
Klhdc8b T C 9: 108,448,425 E264G probably damaging Het
Lair1 T A 7: 4,055,827 probably benign Het
Lama1 T C 17: 67,750,655 Y575H probably damaging Het
Lamtor2 C A 3: 88,550,713 G29* probably null Het
Loxhd1 A T 18: 77,361,730 D341V probably damaging Het
Lrp2 T A 2: 69,466,340 D3290V probably damaging Het
Matn2 A T 15: 34,399,155 D396V probably damaging Het
Me3 T A 7: 89,849,743 D510E probably benign Het
Melk A G 4: 44,318,109 Y170C probably damaging Het
Mgat2 T C 12: 69,184,793 V47A probably benign Het
Mindy4 T C 6: 55,301,064 I631T probably damaging Het
Myo5b T A 18: 74,577,440 probably null Het
Myo7b A T 18: 31,998,150 D521E probably damaging Het
Nlrp9b T A 7: 20,062,683 F986I probably benign Het
Olfr1089 A G 2: 86,732,955 L219P probably damaging Het
Patj A G 4: 98,469,567 D690G probably benign Het
Pias2 T C 18: 77,097,258 S5P probably damaging Het
Reep4 A T 14: 70,547,703 S150C probably damaging Het
Slc25a21 T C 12: 57,196,900 R14G probably benign Het
Slc6a6 G C 6: 91,754,915 R575T probably damaging Het
Speg T A 1: 75,406,679 Y886* probably null Het
Tas2r103 A C 6: 133,036,531 F191V probably damaging Het
Tbc1d19 A G 5: 53,837,924 D145G probably benign Het
Tex47 T A 5: 7,305,461 I214N probably damaging Het
Tnnt3 A T 7: 142,501,645 D3V probably damaging Het
Trdv2-1 T G 14: 53,946,385 S24A probably benign Het
Ubr4 A G 4: 139,452,640 D3377G possibly damaging Het
Ugt3a2 A T 15: 9,361,579 D147V probably damaging Het
Usp9y A T Y: 1,446,843 D103E probably benign Homo
Vmn1r168 A G 7: 23,541,536 I273V probably benign Het
Vmn2r61 T C 7: 42,266,491 I176T probably benign Het
Vmn2r8 T A 5: 108,808,597 D53V probably benign Het
Zbtb8os A T 4: 129,335,982 probably benign Het
Zfp551 C T 7: 12,415,412 R690Q probably damaging 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
IGL03083:Hpca APN 4 129118526 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
R7237:Hpca UTSW 4 129118614 missense probably damaging 1.00
R7602:Hpca UTSW 4 129120226 intron probably benign
Predicted Primers PCR Primer
(F):5'- TGATGAACTCCCGGAAGTCG -3'
(R):5'- GGGTCAAATGAGACTTTGGGC -3'

Sequencing Primer
(F):5'- AACTCCCGGAAGTCGATGGTG -3'
(R):5'- CCTTCTGGAGACGTGTCAAG -3'
Posted On2018-03-15