Incidental Mutation 'R1244:Calca'
ID 152086
Institutional Source Beutler Lab
Gene Symbol Calca
Ensembl Gene ENSMUSG00000030669
Gene Name calcitonin/calcitonin-related polypeptide, alpha
Synonyms Ct, Cgrp, CA, CT, Calc, Ctn, alpha CGRP
MMRRC Submission 039311-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1244 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 114230713-114235592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114232962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 96 (Y96H)
Ref Sequence ENSEMBL: ENSMUSP00000146328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032906] [ENSMUST00000032907] [ENSMUST00000205714] [ENSMUST00000205933] [ENSMUST00000206156] [ENSMUST00000206853]
AlphaFold P70160
Predicted Effect probably benign
Transcript: ENSMUST00000032906
SMART Domains Protein: ENSMUSP00000032906
Gene: ENSMUSG00000030669

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
CALCITONIN 81 123 3.93e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000032907
AA Change: Y96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032907
Gene: ENSMUSG00000030669
AA Change: Y96H

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
CALCITONIN 83 120 4.54e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205560
Predicted Effect probably benign
Transcript: ENSMUST00000205714
Predicted Effect probably benign
Transcript: ENSMUST00000205933
Predicted Effect probably benign
Transcript: ENSMUST00000206156
Predicted Effect probably damaging
Transcript: ENSMUST00000206853
AA Change: Y96H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide (CGRP) and katacalcin. Alternative splicing of the mRNA results in multiple variants that encode either calcitonin or CGRP preproproteins. Post-translational processing of the calcitonin and CGRP propeptides results in either calcitonin and katacalcin, or CGRP, respectively. Calcitonin and katacalcin modulate calcium levels in the blood stream. CGRP can function as a vasodilator and play a role in the transmission of pain. The human homolog of CGRP was found to have antimicrobial activity. [provided by RefSeq, Mar 2015]
PHENOTYPE: Two separate peptides, calcitonin and calcitonin gene related peptide-alpha (CGRP-alpha), are derived from this locus by alternative splicing. Mice homozygous null for CGRP-alpha have changes in the vascular and nervous system. Mice lacking calcitonin have increased bone mineralization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,262,918 (GRCm39) T1417I probably benign Het
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abtb3 C A 10: 85,223,227 (GRCm39) T12K unknown Het
Ash2l T C 8: 26,307,449 (GRCm39) S529G probably damaging Het
Atp13a3 T C 16: 30,180,654 (GRCm39) Y125C probably benign Het
Cct4 A G 11: 22,946,417 (GRCm39) E131G probably benign Het
Cd84 A G 1: 171,679,397 (GRCm39) D25G probably damaging Het
Chd9 A G 8: 91,749,557 (GRCm39) D1728G probably damaging Het
Cyp39a1 A T 17: 44,060,836 (GRCm39) K461N probably benign Het
Ddx50 T A 10: 62,478,703 (GRCm39) Q161L probably damaging Het
Golga5 A G 12: 102,438,554 (GRCm39) T90A probably benign Het
Heatr3 A G 8: 88,868,367 (GRCm39) E39G possibly damaging Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il10 A G 1: 130,951,953 (GRCm39) D162G probably damaging Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ogfod1 A G 8: 94,763,999 (GRCm39) D28G probably benign Het
Or5an10 A T 19: 12,275,860 (GRCm39) I212N probably damaging Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Scn2a T C 2: 65,593,999 (GRCm39) I1616T probably damaging Het
Sipa1l1 A G 12: 82,472,190 (GRCm39) N1390S probably benign Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Tbc1d17 A T 7: 44,493,822 (GRCm39) V267E probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r77 A T 7: 11,775,847 (GRCm39) T140S possibly damaging Het
Vmn2r15 A T 5: 109,441,092 (GRCm39) Y255* probably null Het
Other mutations in Calca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03064:Calca APN 7 114,232,919 (GRCm39) missense probably benign 0.03
R1575:Calca UTSW 7 114,234,396 (GRCm39) missense probably damaging 0.96
R1599:Calca UTSW 7 114,233,707 (GRCm39) missense probably damaging 1.00
R1892:Calca UTSW 7 114,232,962 (GRCm39) missense probably damaging 1.00
R3692:Calca UTSW 7 114,233,796 (GRCm39) missense probably damaging 1.00
R7985:Calca UTSW 7 114,234,413 (GRCm39) missense possibly damaging 0.61
R8087:Calca UTSW 7 114,231,809 (GRCm39) missense probably benign 0.01
R8181:Calca UTSW 7 114,234,387 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCATTCTTTGCCTCAGGAAAGCAAC -3'
(R):5'- TGTGTGAACCAACCTCCTACCAGC -3'

Sequencing Primer
(F):5'- GGAACTACATGCATCAAGTTATAGG -3'
(R):5'- TACCAGCCCCGTCCCAG -3'
Posted On 2014-01-29