Incidental Mutation 'R8671:Hpcal4'
ID 661150
Institutional Source Beutler Lab
Gene Symbol Hpcal4
Ensembl Gene ENSMUSG00000046093
Gene Name hippocalcin-like 4
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8671 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 123183227-123194701 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123189183 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 107 (M107I)
Ref Sequence ENSEMBL: ENSMUSP00000051487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059667] [ENSMUST00000106246] [ENSMUST00000126995] [ENSMUST00000152194]
AlphaFold Q8BGZ1
Predicted Effect probably benign
Transcript: ENSMUST00000059667
AA Change: M107I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051487
Gene: ENSMUSG00000046093
AA Change: M107I

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
EFh 150 178 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106246
AA Change: M107I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101853
Gene: ENSMUSG00000046093
AA Change: M107I

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
EFh 150 178 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126995
Predicted Effect probably benign
Transcript: ENSMUST00000152194
AA Change: M107I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120066
Gene: ENSMUSG00000046093
AA Change: M107I

DomainStartEndE-ValueType
EFh 64 92 3.01e-5 SMART
EFh 100 128 4.88e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
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 highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik C T 4: 73,942,929 E145K probably damaging Het
4930430A15Rik T C 2: 111,229,532 probably benign Het
4930467E23Rik T A 8: 19,734,759 L203* probably null Het
Ambp A T 4: 63,150,419 Y120* probably null Het
Ankrd36 C T 11: 5,629,312 A192V probably benign Het
Apol7e A T 15: 77,717,603 M134L probably benign Het
Atg9b A T 5: 24,386,109 N774K probably benign Het
BC027072 G T 17: 71,751,377 A435E probably benign Het
Catsperb T A 12: 101,594,337 N862K possibly damaging Het
Ccdc7a T A 8: 128,920,467 D648V probably damaging Het
Cfap54 G T 10: 92,955,072 P1855T unknown Het
Clcnkb T A 4: 141,412,230 T154S probably damaging Het
Cux1 C T 5: 136,250,600 R609H probably damaging Het
Eif2ak4 A G 2: 118,422,186 D413G possibly damaging Het
Flnc T C 6: 29,443,502 probably null Het
Grm5 T C 7: 88,116,290 probably null Het
Hectd3 T G 4: 116,996,581 F225V possibly damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ikbkap A G 4: 56,771,453 L948P probably damaging Het
Larp4 C A 15: 100,010,458 Q607K probably benign Het
March8 A G 6: 116,401,854 R250G probably benign Het
Med13 A C 11: 86,271,097 N2135K probably damaging Het
Msh5 T A 17: 35,045,933 R89* probably null Het
Musk T G 4: 58,286,051 probably benign Het
Myo18b T C 5: 112,874,743 Q261R unknown Het
Npr1 A T 3: 90,456,157 probably benign Het
Nynrin T A 14: 55,870,442 V1002E possibly damaging Het
Olfr1138 A T 2: 87,737,646 L226Q probably damaging Het
Olfr1195 A T 2: 88,683,105 F209Y probably benign Het
Olfr1315-ps1 T A 2: 112,110,988 K88M probably damaging Het
Olfr167 T C 16: 19,515,054 Y194C possibly damaging Het
Pcdh9 T C 14: 93,888,650 Y28C probably damaging Het
Pmpca G C 2: 26,395,034 E424Q possibly damaging Het
Prkd1 T A 12: 50,388,408 N512I probably benign Het
Pwwp2b C T 7: 139,256,410 P589L probably damaging Het
Rasgrp4 G A 7: 29,143,027 G242D probably damaging Het
Rcbtb1 T G 14: 59,230,524 V480G probably damaging Het
Rptn A G 3: 93,398,194 S945G probably benign Het
Slc22a2 C T 17: 12,605,976 Q242* probably null Het
Slfn3 T A 11: 83,212,999 V232E probably benign Het
Stab1 T A 14: 31,157,408 K705M probably damaging Het
Syn2 C A 6: 115,278,167 S480* probably null Het
Thsd4 A T 9: 60,394,445 L189H probably damaging Het
Tinagl1 T C 4: 130,167,804 T250A probably benign Het
Tnc A T 4: 64,017,446 C418S probably damaging Het
Ube2q1 A G 3: 89,776,078 E110G probably damaging Het
Wdfy4 G T 14: 32,971,765 probably benign Het
Xcl1 T C 1: 164,931,850 M94V probably benign Het
Zfp369 T C 13: 65,296,281 S413P possibly damaging Het
Zfp454 A C 11: 50,873,768 I279S possibly damaging Het
Zfp971 A C 2: 178,033,937 Q443P probably damaging Het
Other mutations in Hpcal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Hpcal4 APN 4 123189242 critical splice donor site probably null
R0551:Hpcal4 UTSW 4 123189055 missense possibly damaging 0.95
R1669:Hpcal4 UTSW 4 123189076 missense probably damaging 1.00
R1723:Hpcal4 UTSW 4 123190739 missense probably benign 0.00
R4798:Hpcal4 UTSW 4 123190698 missense possibly damaging 0.68
R5486:Hpcal4 UTSW 4 123190764 missense probably benign
R6076:Hpcal4 UTSW 4 123190721 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGTCGCACCCCAATAATCC -3'
(R):5'- TTTACTGCCTGGCATGACC -3'

Sequencing Primer
(F):5'- ATAATCCGCACCCCTGCCTC -3'
(R):5'- AAATGGGGTGTCACCATCTACCG -3'
Posted On 2021-03-08