Incidental Mutation 'R8181:Calca'
ID 634619
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 067605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8181 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 114230713-114235592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114234387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 21 (C21R)
Ref Sequence ENSEMBL: ENSMUSP00000032907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032906] [ENSMUST00000032907] [ENSMUST00000205714] [ENSMUST00000205933] [ENSMUST00000206156] [ENSMUST00000206853]
AlphaFold P70160
Predicted Effect probably benign
Transcript: ENSMUST00000032906
AA Change: C21R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032906
Gene: ENSMUSG00000030669
AA Change: C21R

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: C21R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032907
Gene: ENSMUSG00000030669
AA Change: C21R

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
CALCITONIN 83 120 4.54e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205714
AA Change: C21R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000205933
AA Change: C21R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000206156
AA Change: C21R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206853
AA Change: C21R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,774,156 (GRCm39) S1115N probably damaging Het
Abca1 A G 4: 53,059,303 (GRCm39) V1551A probably benign Het
Adam30 T C 3: 98,070,291 (GRCm39) I708T probably benign Het
Aknad1 T A 3: 108,659,328 (GRCm39) L114H possibly damaging Het
Akr1c18 G A 13: 4,185,262 (GRCm39) S290L probably benign Het
Aldh18a1 G T 19: 40,545,881 (GRCm39) D635E probably benign Het
Bax G T 7: 45,115,698 (GRCm39) P23Q probably null Het
Bhlha15 A T 5: 144,128,244 (GRCm39) N119Y probably damaging Het
Boll T A 1: 55,402,478 (GRCm39) M1L probably benign Het
C2cd2 A T 16: 97,693,502 (GRCm39) I123N probably benign Het
Cacnb4 A C 2: 52,364,997 (GRCm39) S89A probably benign Het
Calcr T C 6: 3,693,899 (GRCm39) I325M probably benign Het
Card14 T A 11: 119,212,718 (GRCm39) F94Y probably damaging Het
Chil3 A C 3: 106,057,203 (GRCm39) I247S probably damaging Het
Clca3b T C 3: 144,544,898 (GRCm39) N363S probably benign Het
Cnksr3 A G 10: 7,070,475 (GRCm39) V494A possibly damaging Het
Cog4 A G 8: 111,578,717 (GRCm39) probably null Het
Crybg1 T A 10: 43,862,322 (GRCm39) Y1484F probably damaging Het
Dglucy A G 12: 100,816,370 (GRCm39) probably null Het
Dmp1 T A 5: 104,359,380 (GRCm39) probably null Het
Dscaml1 T A 9: 45,658,140 (GRCm39) I1637N possibly damaging Het
Ercc6 T A 14: 32,279,905 (GRCm39) I640N probably damaging Het
Esp16 G T 17: 39,850,707 (GRCm39) E29* probably null Het
Fam149a T C 8: 45,834,755 (GRCm39) I15V possibly damaging Het
Flt4 T A 11: 49,525,723 (GRCm39) I724N probably damaging Het
Glb1 C T 9: 114,259,429 (GRCm39) R202C probably damaging Het
Gmpr2 C A 14: 55,910,441 (GRCm39) S41* probably null Het
Golgb1 T A 16: 36,737,192 (GRCm39) D2187E probably damaging Het
Gpsm2 A G 3: 108,597,080 (GRCm39) probably null Het
Helz A G 11: 107,563,399 (GRCm39) D1613G unknown Het
Hemgn A C 4: 46,396,504 (GRCm39) M244R possibly damaging Het
Hsd3b1 A T 3: 98,763,453 (GRCm39) V56E probably damaging Het
Jup A T 11: 100,267,751 (GRCm39) I524N probably damaging Het
Kdm1b G T 13: 47,205,377 (GRCm39) probably null Het
Kif11 A T 19: 37,379,095 (GRCm39) probably null Het
Lars1 A T 18: 42,361,835 (GRCm39) W591R probably damaging Het
Lrtm1 T A 14: 28,743,894 (GRCm39) S121T probably damaging Het
Med12l A C 3: 59,169,389 (GRCm39) D1593A probably damaging Het
Med17 A T 9: 15,188,928 (GRCm39) D112E possibly damaging Het
Mettl2 T A 11: 105,019,866 (GRCm39) F168I probably benign Het
Mmp9 A T 2: 164,792,365 (GRCm39) D323V probably damaging Het
Mpzl2 C T 9: 44,961,006 (GRCm39) T214I probably benign Het
Ms4a15 T C 19: 10,958,670 (GRCm39) H134R probably benign Het
Ms4a6d T A 19: 11,580,653 (GRCm39) I2F probably damaging Het
Muc3a G A 5: 137,244,535 (GRCm39) P206S unknown Het
Nectin2 C A 7: 19,458,733 (GRCm39) L359F probably damaging Het
Or2y6 C A 11: 52,104,096 (GRCm39) C240F probably damaging Het
Or4f53 T A 2: 111,087,918 (GRCm39) F153I probably benign Het
Pgm2 G T 5: 64,269,467 (GRCm39) C518F possibly damaging Het
Plppr4 A G 3: 117,116,114 (GRCm39) V581A probably damaging Het
Prkra G C 2: 76,469,634 (GRCm39) L142V probably damaging Het
Prpf38a G A 4: 108,434,195 (GRCm39) T74I probably benign Het
Ptprs T A 17: 56,736,064 (GRCm39) N635I probably damaging Het
Rxfp2 A G 5: 149,987,201 (GRCm39) N361D probably benign Het
Ryr3 T G 2: 112,608,588 (GRCm39) I2351L probably damaging Het
Sfmbt2 A T 2: 10,580,190 (GRCm39) T618S probably benign Het
Six6 A G 12: 72,986,906 (GRCm39) D26G probably damaging Het
Slc20a1 T C 2: 129,051,047 (GRCm39) L568P probably damaging Het
Slx4ip T A 2: 136,842,104 (GRCm39) C10S probably damaging Het
Sox13 G T 1: 133,311,498 (GRCm39) T578K probably benign Het
Spire2 A T 8: 124,088,042 (GRCm39) S509C probably damaging Het
Sptbn4 T C 7: 27,074,808 (GRCm39) D1521G possibly damaging Het
Sult2a7 T C 7: 14,204,098 (GRCm39) T207A probably benign Het
Sun2 A G 15: 79,609,721 (GRCm39) I708T probably damaging Het
Supt5 T C 7: 28,030,899 (GRCm39) E44G unknown Het
Thsd1 A G 8: 22,733,022 (GRCm39) E23G probably damaging Het
Ticrr T C 7: 79,310,728 (GRCm39) V214A possibly damaging Het
Vmn2r74 A T 7: 85,605,324 (GRCm39) F441L probably damaging Het
Zfp30 A G 7: 29,493,080 (GRCm39) T526A probably benign Het
Zfp518a G T 19: 40,902,415 (GRCm39) Q781H probably damaging Het
Zmynd11 A G 13: 9,739,687 (GRCm39) V434A probably benign Het
Zranb1 A G 7: 132,585,508 (GRCm39) D652G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TAGAGGCTTGAGTCAGCGTC -3'
(R):5'- GGAGTCACAGGCATAAGCAC -3'

Sequencing Primer
(F):5'- GCTTGAGTCAGCGTCCTCATAAG -3'
(R):5'- CACAGAAAGCCAGGTCCATGG -3'
Posted On 2020-07-13