Incidental Mutation 'R3431:Calcb'
ID268116
Institutional Source Beutler Lab
Gene Symbol Calcb
Ensembl Gene ENSMUSG00000030666
Gene Namecalcitonin-related polypeptide, beta
SynonymsCalc2, CGRP2
MMRRC Submission 040649-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3431 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location114718643-114723365 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114719829 bp
ZygosityHeterozygous
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]
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: 35,589,216 H140R possibly damaging Het
Adamts3 A G 5: 89,707,453 probably benign Het
Apob T G 12: 8,010,778 F3054V probably damaging Het
Bahd1 G A 2: 118,922,523 R757H probably damaging Het
Cbl T C 9: 44,151,446 *914W probably null Het
Chd4 A G 6: 125,120,560 probably benign Het
Clec4a2 A T 6: 123,139,411 probably null Het
Crb2 T A 2: 37,792,217 V870E probably benign Het
Cyp2c39 A G 19: 39,536,862 E203G probably damaging Het
Dhrs7 A T 12: 72,664,727 L12Q probably damaging Het
Dnah5 A G 15: 28,295,267 Y1382C probably benign Het
Efs C T 14: 54,920,224 R117Q probably damaging Het
Evl T C 12: 108,648,308 probably benign Het
Fbxo16 T C 14: 65,293,784 F46L probably damaging Het
Fsip2 A G 2: 82,992,010 E6029G possibly damaging Het
Gm20775 A T Y: 10,641,956 noncoding transcript Het
Gm4924 T A 10: 82,379,030 Y887* probably null Het
H60c G T 10: 3,260,382 R56S possibly damaging Het
Hbq1a T G 11: 32,300,715 S133A probably benign Het
Hhipl1 A G 12: 108,311,689 E92G probably damaging Het
Knl1 A T 2: 119,062,362 E46D probably damaging Het
Mcm2 G A 6: 88,893,008 R60C probably damaging Het
Mfsd13a C T 19: 46,371,992 R328C probably damaging Het
Mmp21 T C 7: 133,678,750 T164A probably benign Het
Mthfd2 T C 6: 83,311,348 R142G probably benign Het
Mup4 T G 4: 59,959,192 probably null Het
Npas3 A T 12: 54,069,049 Q900L probably damaging Het
Nr1h3 T C 2: 91,191,860 D141G probably damaging Het
Rap2a G T 14: 120,503,758 A158S possibly damaging Het
Rttn A G 18: 89,095,571 T1705A probably benign Het
Ryr3 A T 2: 112,656,531 V3834E probably damaging Het
Taf5 A C 19: 47,075,833 K405T probably damaging Het
Tbc1d19 T C 5: 53,848,206 probably benign Het
Tmem232 A T 17: 65,265,302 probably null Het
Tssk4 A G 14: 55,651,695 N226S probably damaging Het
Tulp4 C A 17: 6,206,964 S311R probably benign Het
Uggt1 C A 1: 36,210,059 E267* probably null Het
Usp34 T C 11: 23,370,466 I917T possibly damaging Het
Other mutations in Calcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Calcb APN 7 114720136 missense probably damaging 1.00
R0588:Calcb UTSW 7 114720126 missense probably benign 0.05
R6387:Calcb UTSW 7 114719790 missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GCACGTTTTGAGAGCTGCAG -3'
(R):5'- TGCAGGTTCTGATTCCCTG -3'

Sequencing Primer
(F):5'- AGCTGCAGTGTGGTAGGAG -3'
(R):5'- TGCCTATCTCCTCCCCAAATAAG -3'
Posted On2015-02-18