Incidental Mutation 'R3431:Calcb'
ID 268116
Institutional Source Beutler Lab
Gene Symbol Calcb
Ensembl Gene ENSMUSG00000030666
Gene Name calcitonin-related polypeptide, beta
Synonyms CGRP2, Calc2
MMRRC Submission 040649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3431 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 114317878-114322600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114319064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 30 (R30W)
Ref Sequence ENSEMBL: ENSMUSP00000138713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032902] [ENSMUST00000182044] [ENSMUST00000182816]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032902
AA Change: R30W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032902
Gene: ENSMUSG00000030666
AA Change: R30W

DomainStartEndE-ValueType
CALCITONIN 82 124 3.42e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182044
AA Change: R30W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138590
Gene: ENSMUSG00000030666
AA Change: R30W

DomainStartEndE-ValueType
Pfam:Calc_CGRP_IAPP 1 52 6.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182816
AA Change: R30W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138713
Gene: ENSMUSG00000030666
AA Change: R30W

DomainStartEndE-ValueType
CALCITONIN 108 150 3.42e-18 SMART
Meta Mutation Damage Score 0.5820 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,746,560 (GRCm39) H140R possibly damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Apob T G 12: 8,060,778 (GRCm39) F3054V probably damaging Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cbl T C 9: 44,062,743 (GRCm39) *914W probably null Het
Chd4 A G 6: 125,097,523 (GRCm39) probably benign Het
Clec4a2 A T 6: 123,116,370 (GRCm39) probably null Het
Crb2 T A 2: 37,682,229 (GRCm39) V870E probably benign Het
Cyp2c39 A G 19: 39,525,306 (GRCm39) E203G probably damaging Het
Dhrs7 A T 12: 72,711,501 (GRCm39) L12Q probably damaging Het
Dnah5 A G 15: 28,295,413 (GRCm39) Y1382C probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Fsip2 A G 2: 82,822,354 (GRCm39) E6029G possibly damaging Het
Gm20775 A T Y: 10,641,956 (GRCm39) noncoding transcript Het
Gm4924 T A 10: 82,214,864 (GRCm39) Y887* probably null Het
H60c G T 10: 3,210,382 (GRCm39) R56S possibly damaging Het
Hbq1a T G 11: 32,250,715 (GRCm39) S133A probably benign Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Knl1 A T 2: 118,892,843 (GRCm39) E46D probably damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmp21 T C 7: 133,280,479 (GRCm39) T164A probably benign Het
Mthfd2 T C 6: 83,288,330 (GRCm39) R142G probably benign Het
Mup4 T G 4: 59,959,192 (GRCm39) probably null Het
Npas3 A T 12: 54,115,832 (GRCm39) Q900L probably damaging Het
Nr1h3 T C 2: 91,022,205 (GRCm39) D141G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rttn A G 18: 89,113,695 (GRCm39) T1705A probably benign Het
Ryr3 A T 2: 112,486,876 (GRCm39) V3834E probably damaging Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Tmem232 A T 17: 65,572,297 (GRCm39) probably null Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Tulp4 C A 17: 6,257,239 (GRCm39) S311R probably benign Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Usp34 T C 11: 23,320,466 (GRCm39) I917T possibly damaging Het
Other mutations in Calcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Calcb APN 7 114,319,371 (GRCm39) missense probably damaging 1.00
R0588:Calcb UTSW 7 114,319,361 (GRCm39) missense probably benign 0.05
R6387:Calcb UTSW 7 114,319,025 (GRCm39) missense possibly damaging 0.74
R8729:Calcb UTSW 7 114,319,428 (GRCm39) missense probably benign 0.19
Z1177:Calcb UTSW 7 114,321,397 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCACGTTTTGAGAGCTGCAG -3'
(R):5'- TGCAGGTTCTGATTCCCTG -3'

Sequencing Primer
(F):5'- AGCTGCAGTGTGGTAGGAG -3'
(R):5'- TGCCTATCTCCTCCCCAAATAAG -3'
Posted On 2015-02-18