Incidental Mutation 'R9780:Hpcal1'
ID 733994
Institutional Source Beutler Lab
Gene Symbol Hpcal1
Ensembl Gene ENSMUSG00000071379
Gene Name hippocalcin-like 1
Synonyms Nvp3, visinin like 3, neural visinin-like 3, Vnsl3, VILIP3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R9780 (G1)
Quality Score 159.009
Status Not validated
Chromosome 12
Chromosomal Location 17740857-17841934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17836494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 108 (Y108C)
Ref Sequence ENSEMBL: ENSMUSP00000071756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071858] [ENSMUST00000222944]
AlphaFold P62748
Predicted Effect probably damaging
Transcript: ENSMUST00000071858
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071756
Gene: ENSMUSG00000071379
AA Change: Y108C

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 5.78e-7 SMART
EFh 148 176 7.4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000222944
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,911,447 (GRCm39) T1344A probably benign Het
Actrt3 T A 3: 30,652,876 (GRCm39) I73F probably damaging Het
Ankrd24 T C 10: 81,482,196 (GRCm39) S915P possibly damaging Het
Ano1 A T 7: 144,209,358 (GRCm39) F281I probably damaging Het
Arhgap42 A G 9: 9,059,102 (GRCm39) V148A probably benign Het
Arnt2 A G 7: 83,954,426 (GRCm39) I256T probably benign Het
Bloc1s3 G A 7: 19,241,408 (GRCm39) S40L possibly damaging Het
Cep68 G A 11: 20,192,142 (GRCm39) P19L probably benign Het
Chst9 T A 18: 15,586,221 (GRCm39) Q114L probably benign Het
Cpa2 T A 6: 30,545,536 (GRCm39) F106I probably benign Het
Cplane1 A G 15: 8,258,123 (GRCm39) E2123G probably benign Het
Crocc T C 4: 140,756,556 (GRCm39) D1187G probably benign Het
Dhx8 A T 11: 101,632,403 (GRCm39) D454V possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eif3a A T 19: 60,766,398 (GRCm39) L310H probably damaging Het
Ergic3 C A 2: 155,853,164 (GRCm39) Y202* probably null Het
Fam117a A T 11: 95,268,309 (GRCm39) I237L possibly damaging Het
Fcsk T C 8: 111,613,743 (GRCm39) M773V probably benign Het
Gcnt4 T A 13: 97,083,948 (GRCm39) S415T probably benign Het
Hacl1 C A 14: 31,362,519 (GRCm39) V43L possibly damaging Het
Hbb-bh2 A G 7: 103,489,624 (GRCm39) L4P probably damaging Het
Hmbs A G 9: 44,247,985 (GRCm39) L357P probably damaging Het
Hspa14 A T 2: 3,490,741 (GRCm39) M482K probably damaging Het
Ifi27l2b G T 12: 103,417,461 (GRCm39) P242Q unknown Het
Insyn1 A G 9: 58,406,881 (GRCm39) N264D probably damaging Het
Itpr1 T C 6: 108,487,795 (GRCm39) V2407A probably benign Het
Lcp1 T C 14: 75,440,178 (GRCm39) F154S probably damaging Het
Lmod2 T C 6: 24,604,233 (GRCm39) S403P probably damaging Het
Lrrc63 G A 14: 75,360,500 (GRCm39) A334V probably damaging Het
Lrriq1 T A 10: 103,025,824 (GRCm39) T933S probably damaging Het
Mga A G 2: 119,747,253 (GRCm39) Y468C probably benign Het
Msh4 T C 3: 153,582,342 (GRCm39) Y510C probably damaging Het
Myh11 T C 16: 14,064,613 (GRCm39) K235R Het
Nek2 A T 1: 191,554,738 (GRCm39) D150V probably damaging Het
Nfkbil1 C A 17: 35,439,898 (GRCm39) R205L possibly damaging Het
Nox3 A G 17: 3,736,260 (GRCm39) F122S possibly damaging Het
Nrxn1 A G 17: 90,931,042 (GRCm39) V718A possibly damaging Het
Oplah A G 15: 76,181,940 (GRCm39) I1061T probably damaging Het
Or13e8 G A 4: 43,697,193 (GRCm39) probably benign Het
Or2y16 G A 11: 49,335,014 (GRCm39) C112Y possibly damaging Het
Or51b17 A G 7: 103,542,631 (GRCm39) S104P probably damaging Het
Or9m1 A G 2: 87,733,426 (GRCm39) L198P probably damaging Het
Pcf11 A T 7: 92,313,313 (GRCm39) D123E possibly damaging Het
Pcna C T 2: 132,094,794 (GRCm39) E55K probably benign Het
Pip5k1c T C 10: 81,141,030 (GRCm39) V46A probably benign Het
Plce1 T G 19: 38,609,134 (GRCm39) L481R possibly damaging Het
Psma7 A T 2: 179,678,339 (GRCm39) Y228N unknown Het
Rcbtb1 T A 14: 59,465,796 (GRCm39) Y380N probably benign Het
Rin2 A T 2: 145,718,551 (GRCm39) E677V probably damaging Het
Scgb2b11 A G 7: 31,909,861 (GRCm39) L75P probably damaging Het
Scn4a A G 11: 106,226,235 (GRCm39) V775A probably damaging Het
Setx A G 2: 29,016,999 (GRCm39) D34G possibly damaging Het
Slc38a9 A T 13: 112,862,591 (GRCm39) D430V probably damaging Het
Snapc4 A T 2: 26,267,019 (GRCm39) N77K possibly damaging Het
Stk32a T G 18: 43,375,049 (GRCm39) F20V probably benign Het
Taf1b G A 12: 24,564,818 (GRCm39) G145D probably damaging Het
Tomt G C 7: 101,549,536 (GRCm39) Q251E probably benign Het
Tsc1 G A 2: 28,565,761 (GRCm39) E471K probably damaging Het
Ttll9 G A 2: 152,836,023 (GRCm39) A256T possibly damaging Het
Ttn A T 2: 76,774,289 (GRCm39) C2252S probably benign Het
Ttn A T 2: 76,785,035 (GRCm39) D797E unknown Het
Usf3 T A 16: 44,039,181 (GRCm39) N1220K possibly damaging Het
Usp22 A T 11: 61,050,069 (GRCm39) H355Q probably benign Het
Virma T A 4: 11,513,442 (GRCm39) V432E possibly damaging Het
Vtn A C 11: 78,393,003 (GRCm39) D456A probably damaging Het
Zbbx A G 3: 74,945,359 (GRCm39) S688P probably damaging Het
Zfhx2 C A 14: 55,312,494 (GRCm39) D67Y probably benign Het
Zfp87 T C 13: 67,665,241 (GRCm39) H407R probably damaging Het
Other mutations in Hpcal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Hpcal1 APN 12 17,841,146 (GRCm39) missense probably benign 0.00
IGL00957:Hpcal1 APN 12 17,837,591 (GRCm39) missense probably benign 0.17
R0137:Hpcal1 UTSW 12 17,836,389 (GRCm39) missense probably damaging 1.00
R0920:Hpcal1 UTSW 12 17,841,098 (GRCm39) splice site probably benign
R1490:Hpcal1 UTSW 12 17,836,225 (GRCm39) missense probably benign
R5843:Hpcal1 UTSW 12 17,841,200 (GRCm39) missense probably benign 0.00
R7957:Hpcal1 UTSW 12 17,841,171 (GRCm39) missense probably damaging 1.00
R8838:Hpcal1 UTSW 12 17,836,197 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TACAAGGGCTTCCTCAAGGAC -3'
(R):5'- CTCCTGTACACCAGCAAGTG -3'

Sequencing Primer
(F):5'- CCTGACTGTGGACGAGTTCAAG -3'
(R):5'- CCAGCAAGTGGGCCAAG -3'
Posted On 2022-11-14