Incidental Mutation 'IGL03064:Calca'
ID 409592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calca
Ensembl Gene ENSMUSG00000030669
Gene Name calcitonin/calcitonin-related polypeptide, alpha
Synonyms Ct, Cgrp, CA, CT, Calc, Ctn, alpha CGRP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL03064
Quality Score
Status
Chromosome 7
Chromosomal Location 114230713-114235592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114232919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 110 (S110L)
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 benign
Transcript: ENSMUST00000032907
AA Change: S110L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032907
Gene: ENSMUSG00000030669
AA Change: S110L

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 benign
Transcript: ENSMUST00000206853
AA Change: S110L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,174,864 (GRCm39) T210A probably damaging Het
Adgb T A 10: 10,276,316 (GRCm39) T351S probably benign Het
Akap9 A G 5: 4,018,755 (GRCm39) H1112R probably damaging Het
Angptl6 A T 9: 20,786,939 (GRCm39) Y261* probably null Het
Arhgef10l A C 4: 140,306,590 (GRCm39) F395V probably damaging Het
Bub1 T C 2: 127,659,373 (GRCm39) N328S probably benign Het
Cacna1s A G 1: 136,039,731 (GRCm39) N1186D probably damaging Het
Cacna2d2 C A 9: 107,386,474 (GRCm39) F200L probably damaging Het
Ccdc120 G A X: 7,601,601 (GRCm39) P263S probably benign Het
Dcaf8l A G X: 88,448,857 (GRCm39) V424A possibly damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
F5 A T 1: 164,023,163 (GRCm39) T1574S probably benign Het
Fam227b T C 2: 125,968,762 (GRCm39) probably null Het
Gm20521 T A 14: 55,134,680 (GRCm39) S301T possibly damaging Het
Hsd17b7 A T 1: 169,787,287 (GRCm39) I239N probably benign Het
Itih1 C A 14: 30,663,514 (GRCm39) E163D probably benign Het
Lama1 A T 17: 68,086,099 (GRCm39) Y1446F probably benign Het
Lama3 C T 18: 12,572,406 (GRCm39) T537M possibly damaging Het
Lars1 G T 18: 42,354,636 (GRCm39) Y770* probably null Het
Lrp2 A T 2: 69,313,477 (GRCm39) V2418E probably damaging Het
Maip1 A G 1: 57,446,359 (GRCm39) E143G probably damaging Het
Mast4 G T 13: 102,897,472 (GRCm39) S739* probably null Het
Mctp1 C T 13: 76,949,632 (GRCm39) Q555* probably null Het
Med14 A T X: 12,613,742 (GRCm39) D291E probably benign Het
Mgat2 T A 12: 69,231,777 (GRCm39) V117D probably damaging Het
Mllt1 A T 17: 57,207,094 (GRCm39) M250K probably benign Het
Myt1 A C 2: 181,439,594 (GRCm39) Y372S probably benign Het
Naa16 T A 14: 79,577,068 (GRCm39) Q735H probably damaging Het
Ncf4 A G 15: 78,135,102 (GRCm39) Y53C probably damaging Het
Nlrp4a A T 7: 26,148,934 (GRCm39) K180N probably benign Het
Nova1 A G 12: 46,746,861 (GRCm39) V472A probably damaging Het
Nup153 T C 13: 46,847,315 (GRCm39) T705A probably benign Het
Odf2 T A 2: 29,791,091 (GRCm39) N79K probably benign Het
Or4f7 A G 2: 111,644,768 (GRCm39) I101T possibly damaging Het
Pard3b G A 1: 62,237,930 (GRCm39) probably benign Het
Pde8b G A 13: 95,182,906 (GRCm39) T388I probably damaging Het
Phactr2 A G 10: 13,264,457 (GRCm39) probably benign Het
Phf12 T C 11: 77,874,186 (GRCm39) S17P probably damaging Het
Psmg2 T A 18: 67,779,102 (GRCm39) L90* probably null Het
Ryr2 T C 13: 11,658,788 (GRCm39) probably null Het
Sec23b T C 2: 144,423,952 (GRCm39) F534L probably benign Het
Sin3b A G 8: 73,483,686 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,947,818 (GRCm39) L463Q probably damaging Het
Slc35g3 T C 11: 69,651,895 (GRCm39) H52R possibly damaging Het
Slc6a3 G T 13: 73,719,585 (GRCm39) S538I probably damaging Het
Socs2 G T 10: 95,248,713 (GRCm39) C133* probably null Het
Srebf2 G A 15: 82,076,423 (GRCm39) R691H probably benign Het
Tlr11 C A 14: 50,598,557 (GRCm39) P181Q probably damaging Het
Tlr7 T A X: 166,089,203 (GRCm39) Q761L possibly damaging Het
Tmem120b T A 5: 123,240,336 (GRCm39) Y90N possibly damaging Het
Tpcn1 T C 5: 120,675,631 (GRCm39) I778V possibly damaging Het
Ttll8 T C 15: 88,803,797 (GRCm39) T385A probably benign Het
Vmn1r223 G A 13: 23,434,153 (GRCm39) R249H probably damaging Het
Vmn2r53 A T 7: 12,334,937 (GRCm39) I241N possibly damaging Het
Wdfy3 T C 5: 102,083,863 (GRCm39) R808G probably damaging Het
Zfyve26 T A 12: 79,308,565 (GRCm39) S231C probably damaging Het
Other mutations in Calca
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02