Incidental Mutation 'R0588:Calcb'
ID 55835
Institutional Source Beutler Lab
Gene Symbol Calcb
Ensembl Gene ENSMUSG00000030666
Gene Name calcitonin-related polypeptide, beta
Synonyms CGRP2, Calc2
MMRRC Submission 038778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0588 (G1)
Quality Score 102
Status Validated
Chromosome 7
Chromosomal Location 114317878-114322600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114319361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 48 (H48Y)
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 benign
Transcript: ENSMUST00000032902
AA Change: H48Y

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032902
Gene: ENSMUSG00000030666
AA Change: H48Y

DomainStartEndE-ValueType
CALCITONIN 82 124 3.42e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182044
AA Change: H48Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138590
Gene: ENSMUSG00000030666
AA Change: H48Y

DomainStartEndE-ValueType
Pfam:Calc_CGRP_IAPP 1 52 6.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182816
AA Change: H48Y

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138713
Gene: ENSMUSG00000030666
AA Change: H48Y

DomainStartEndE-ValueType
CALCITONIN 108 150 3.42e-18 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (25/25)
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,548,787 (GRCm39) K1299* probably null Het
Adamts2 G T 11: 50,667,491 (GRCm39) W476C probably damaging Het
Ankrd13c T C 3: 157,711,454 (GRCm39) F525L probably damaging Het
Arg1 T C 10: 24,796,522 (GRCm39) S102G probably damaging Het
Atp2a3 A T 11: 72,863,850 (GRCm39) D192V possibly damaging Het
Cabin1 T C 10: 75,581,171 (GRCm39) E385G possibly damaging Het
Cacna1h A T 17: 25,606,538 (GRCm39) D1020E probably damaging Het
Crtc1 A G 8: 70,892,199 (GRCm39) S4P probably damaging Het
Dcaf6 A G 1: 165,247,792 (GRCm39) I147T possibly damaging Het
Ears2 T C 7: 121,643,514 (GRCm39) probably benign Het
Fas T C 19: 34,304,540 (GRCm39) V267A probably damaging Het
Fus T C 7: 127,584,746 (GRCm39) L84P probably damaging Het
Fyb1 T C 15: 6,609,940 (GRCm39) V171A probably benign Het
Gdap2 T A 3: 100,077,317 (GRCm39) M1K probably null Het
Gprc5b T A 7: 118,583,218 (GRCm39) Q217L probably benign Het
Lrrc69 A G 4: 14,704,001 (GRCm39) I273T possibly damaging Het
Map4k4 C A 1: 40,044,024 (GRCm39) Q556K possibly damaging Het
Npy6r T A 18: 44,408,888 (GRCm39) V103E possibly damaging Het
Or5b24 A G 19: 12,912,111 (GRCm39) Y3C probably benign Het
Shisa9 A G 16: 12,085,638 (GRCm39) T416A probably damaging Het
Slc26a9 C A 1: 131,681,749 (GRCm39) probably benign Het
Sostdc1 G T 12: 36,367,020 (GRCm39) probably benign Het
St18 T A 1: 6,887,962 (GRCm39) F510L probably damaging Het
Zdhhc7 A G 8: 120,810,106 (GRCm39) probably benign Het
Other mutations in Calcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Calcb APN 7 114,319,371 (GRCm39) missense probably damaging 1.00
R3431:Calcb UTSW 7 114,319,064 (GRCm39) missense probably damaging 1.00
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'- TGGGAACTGGCCTAATGACCAGAC -3'
(R):5'- TGATGTTTCCCCATCAGTGCAATCC -3'

Sequencing Primer
(F):5'- TAATGACCAGACCGCTACG -3'
(R):5'- TGTGTCTAACAACTATGAGCCC -3'
Posted On 2013-07-11