Incidental Mutation 'R3692:Calca'
ID 268821
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 040687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R3692 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 114230713-114235592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114233796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000146328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032906] [ENSMUST00000032907] [ENSMUST00000205714] [ENSMUST00000205933] [ENSMUST00000206156] [ENSMUST00000206853]
AlphaFold P70160
Predicted Effect possibly damaging
Transcript: ENSMUST00000032906
AA Change: E45G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032906
Gene: ENSMUSG00000030669
AA Change: E45G

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: E45G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032907
Gene: ENSMUSG00000030669
AA Change: E45G

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 damaging
Transcript: ENSMUST00000205714
AA Change: E45G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000205933
AA Change: E45G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206156
AA Change: E45G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206853
AA Change: E45G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3249 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (42/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T C 5: 121,657,385 (GRCm39) D636G probably damaging Het
Adgrv1 A G 13: 81,672,719 (GRCm39) V2218A possibly damaging Het
Ano5 T A 7: 51,240,327 (GRCm39) Y752N probably damaging Het
Bltp2 A G 11: 78,160,335 (GRCm39) D598G probably damaging Het
Cdk8 C T 5: 146,220,478 (GRCm39) R166* probably null Het
Chsy1 T A 7: 65,821,001 (GRCm39) M412K probably damaging Het
Cic T A 7: 24,988,338 (GRCm39) Y1675* probably null Het
Col1a2 T A 6: 4,510,710 (GRCm39) D53E possibly damaging Het
Dennd6b A G 15: 89,071,030 (GRCm39) probably benign Het
Fut10 T A 8: 31,726,048 (GRCm39) Y268N possibly damaging Het
Glrx3 T C 7: 137,060,846 (GRCm39) probably benign Het
Gucy1b2 T A 14: 62,642,076 (GRCm39) N697I probably damaging Het
Ifi208 T C 1: 173,510,438 (GRCm39) S198P possibly damaging Het
Krt34 A G 11: 99,929,857 (GRCm39) V213A probably damaging Het
Lats2 T C 14: 57,928,998 (GRCm39) N959S probably damaging Het
Mat1a A G 14: 40,843,338 (GRCm39) Y288C probably damaging Het
Mtif2 A T 11: 29,490,718 (GRCm39) H474L probably benign Het
Myh8 A G 11: 67,192,744 (GRCm39) I1512V probably damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Noxred1 G A 12: 87,280,240 (GRCm39) R31W probably benign Het
Or14c46 T A 7: 85,918,703 (GRCm39) Q98L probably damaging Het
Or4a69 T A 2: 89,313,240 (GRCm39) M80L probably benign Het
Pcdhb16 C A 18: 37,611,340 (GRCm39) T100K probably benign Het
Pcdhga10 T C 18: 37,881,384 (GRCm39) C382R probably damaging Het
Pdgfra A T 5: 75,349,948 (GRCm39) Y944F possibly damaging Het
Pkhd1 A G 1: 20,625,353 (GRCm39) I741T possibly damaging Het
Ppp1r10 A G 17: 36,241,760 (GRCm39) D845G unknown Het
Rfk C A 19: 17,376,834 (GRCm39) probably null Het
Rgs11 C T 17: 26,423,302 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,865,705 (GRCm39) V951A probably benign Het
St3gal5 T C 6: 72,126,013 (GRCm39) V286A probably benign Het
St7l T C 3: 104,798,870 (GRCm39) M320T probably benign Het
Tnfrsf1b G T 4: 144,954,092 (GRCm39) Q86K probably benign Het
Tox T C 4: 6,697,535 (GRCm39) I423V probably benign Het
Tpbpa T A 13: 61,087,827 (GRCm39) H88L probably benign Het
Vmn1r236 A G 17: 21,507,068 (GRCm39) Y62C probably benign Het
Ythdc1 A G 5: 86,970,526 (GRCm39) I399M probably damaging Het
Zfp948 T G 17: 21,807,838 (GRCm39) D343E probably benign Het
Zswim6 A G 13: 107,863,076 (GRCm39) noncoding transcript Het
Other mutations in Calca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03064:Calca APN 7 114,232,919 (GRCm39) missense probably benign 0.03
R1244:Calca UTSW 7 114,232,962 (GRCm39) missense probably damaging 1.00
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
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'- TTCAGCCTGAGAGTAGCTGA -3'
(R):5'- TTTTGTCATTCAATTTGCCTGCA -3'

Sequencing Primer
(F):5'- AGCCTCGTGTCCTGCTAAACAG -3'
(R):5'- CAATTTGCCTGCACTTATCATTTAAC -3'
Posted On 2015-02-19