Incidental Mutation 'R8544:Cast'
ID 659552
Institutional Source Beutler Lab
Gene Symbol Cast
Ensembl Gene ENSMUSG00000021585
Gene Name calpastatin
Synonyms
MMRRC Submission 068509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8544 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74840487-74956929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74882177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 40 (H40Q)
Ref Sequence ENSEMBL: ENSMUSP00000152504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223206] [ENSMUST00000223309] [ENSMUST00000231578]
AlphaFold P51125
Predicted Effect probably benign
Transcript: ENSMUST00000065629
SMART Domains Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585

DomainStartEndE-ValueType
Pfam:Calpain_inhib 15 272 8.1e-9 PFAM
Pfam:Calpain_inhib 279 404 2.7e-36 PFAM
Pfam:Calpain_inhib 415 544 3.6e-38 PFAM
Pfam:Calpain_inhib 556 684 4.5e-36 PFAM
low complexity region 708 744 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000220738
AA Change: H40Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000222588
Predicted Effect probably benign
Transcript: ENSMUST00000223033
Predicted Effect probably benign
Transcript: ENSMUST00000223126
Predicted Effect probably benign
Transcript: ENSMUST00000223206
Predicted Effect probably benign
Transcript: ENSMUST00000223309
AA Change: H40Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000231578
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: This gene encodes an inhibitor of the calcium-dependent cysteine protease, calpain. This protein plays roles in multiple processes, including apoptosis, cell cycle regulation, and membrane fusion. Multiple protein isoforms exist which contain unique N-terminal domains, and multiple inhibitory domains that share homology with each other. Some isoforms may be tissue-specific. Two different pseudogenes of this gene are found on chromosome 19. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C A 15: 37,425,979 (GRCm39) probably benign Het
Abcb5 A T 12: 118,832,461 (GRCm39) L1171H probably damaging Het
Ace A T 11: 105,862,116 (GRCm39) probably null Het
Adsl G T 15: 80,832,734 (GRCm39) probably benign Het
Cabin1 A G 10: 75,585,890 (GRCm39) M215T probably benign Het
Cabp2 A T 19: 4,134,892 (GRCm39) R77S probably damaging Het
Ccar1 A T 10: 62,586,358 (GRCm39) Y946N unknown Het
Ccdc9b C T 2: 118,587,702 (GRCm39) R544K unknown Het
Chst14 A G 2: 118,758,010 (GRCm39) Y268C probably damaging Het
Dennd1a T C 2: 37,872,920 (GRCm39) probably null Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Entpd8 T C 2: 24,973,856 (GRCm39) V271A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fam234b A G 6: 135,210,287 (GRCm39) Y561C probably damaging Het
Flg A G 3: 93,195,448 (GRCm39) probably benign Het
Galnt5 T A 2: 57,907,160 (GRCm39) M541K probably damaging Het
Gjd3 C A 11: 98,873,488 (GRCm39) E119* probably null Het
Gm266 T C 12: 111,451,799 (GRCm39) T136A possibly damaging Het
Gng11 G A 6: 4,008,045 (GRCm39) C36Y possibly damaging Het
Gse1 G A 8: 121,280,391 (GRCm39) V36I probably damaging Het
Hycc2 T C 1: 58,568,981 (GRCm39) T477A probably benign Het
Invs A T 4: 48,397,598 (GRCm39) H335L probably damaging Het
Kcnc2 A T 10: 112,292,101 (GRCm39) I28F probably damaging Het
Klhl40 C T 9: 121,607,892 (GRCm39) H351Y probably damaging Het
Kremen2 A G 17: 23,961,201 (GRCm39) L382P probably benign Het
Lenep A T 3: 89,309,784 (GRCm39) C55S possibly damaging Het
Lrp12 A T 15: 39,741,970 (GRCm39) Y248* probably null Het
Man2c1 A G 9: 57,038,325 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,376 (GRCm39) M32T possibly damaging Het
Mnt A G 11: 74,722,218 (GRCm39) R22G probably damaging Het
Mroh1 G T 15: 76,327,558 (GRCm39) E1127* probably null Het
Mtmr4 A G 11: 87,502,735 (GRCm39) R930G possibly damaging Het
Nalcn A G 14: 123,608,935 (GRCm39) V644A probably benign Het
Ngf G T 3: 102,427,991 (GRCm39) V247F probably damaging Het
Ninj2 A G 6: 120,175,018 (GRCm39) Y63C probably damaging Het
Or4c121 T C 2: 89,024,312 (GRCm39) E22G possibly damaging Het
Or51g2 A T 7: 102,622,938 (GRCm39) I87N probably damaging Het
Phf12 A C 11: 77,918,235 (GRCm39) I816L probably damaging Het
Pkhd1 C A 1: 20,593,199 (GRCm39) G1638V probably damaging Het
Plce1 T A 19: 38,512,903 (GRCm39) S67R probably benign Het
Plekhf1 A G 7: 37,920,768 (GRCm39) F267L probably damaging Het
Poc1b A T 10: 98,960,770 (GRCm39) K60* probably null Het
Ppic G A 18: 53,544,612 (GRCm39) T66M probably damaging Het
Prep G T 10: 45,029,223 (GRCm39) G541V probably damaging Het
Rasal3 C T 17: 32,611,093 (GRCm39) V947I probably benign Het
Rbl1 T C 2: 157,035,124 (GRCm39) R319G probably damaging Het
Rbm34 A G 8: 127,696,821 (GRCm39) S94P probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sacm1l T C 9: 123,406,123 (GRCm39) probably null Het
Scaf8 T C 17: 3,213,295 (GRCm39) probably benign Het
Scrn1 T A 6: 54,499,841 (GRCm39) T215S probably benign Het
Sfrp4 A G 13: 19,816,336 (GRCm39) probably null Het
Slc37a3 T C 6: 39,321,297 (GRCm39) I406V possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sptbn1 C A 11: 30,169,750 (GRCm39) probably benign Het
St8sia5 T C 18: 77,342,114 (GRCm39) Y275H probably damaging Het
Stab1 A T 14: 30,885,008 (GRCm39) C137* probably null Het
Svep1 A G 4: 58,206,025 (GRCm39) S118P probably benign Het
Tbx6 A G 7: 126,380,656 (GRCm39) probably null Het
Tril C T 6: 53,796,295 (GRCm39) S309N possibly damaging Het
Trmt13 A G 3: 116,386,094 (GRCm39) probably null Het
Trpm1 T A 7: 63,874,356 (GRCm39) probably null Het
Tyr T C 7: 87,142,000 (GRCm39) T110A probably benign Het
Upf1 A C 8: 70,789,702 (GRCm39) F711C probably damaging Het
Usp5 A T 6: 124,800,480 (GRCm39) V267D probably damaging Het
Virma C A 4: 11,516,949 (GRCm39) D714E probably benign Het
Vmn2r115 A C 17: 23,564,773 (GRCm39) Q220P possibly damaging Het
Vmn2r40 T C 7: 8,911,191 (GRCm39) I701V Het
Vwde T A 6: 13,187,652 (GRCm39) M612L probably benign Het
Wwox A G 8: 115,215,646 (GRCm39) T140A probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zbtb9 T A 17: 27,193,448 (GRCm39) C284* probably null Het
Zdhhc12 C A 2: 29,983,486 (GRCm39) A39S probably benign Het
Zfp532 T A 18: 65,758,227 (GRCm39) I720K possibly damaging Het
Zfp595 G A 13: 67,465,244 (GRCm39) R340C probably damaging Het
Other mutations in Cast
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cast APN 13 74,885,093 (GRCm39) missense probably damaging 1.00
IGL01363:Cast APN 13 74,852,311 (GRCm39) missense possibly damaging 0.95
IGL01404:Cast APN 13 74,886,406 (GRCm39) nonsense probably null
IGL01893:Cast APN 13 74,875,408 (GRCm39) nonsense probably null
IGL02139:Cast APN 13 74,876,484 (GRCm39) missense possibly damaging 0.80
IGL02444:Cast APN 13 74,887,972 (GRCm39) missense probably damaging 1.00
IGL02927:Cast APN 13 74,885,113 (GRCm39) missense probably damaging 1.00
IGL02941:Cast APN 13 74,848,806 (GRCm39) missense probably damaging 1.00
IGL02799:Cast UTSW 13 74,884,871 (GRCm39) missense probably damaging 1.00
R0583:Cast UTSW 13 74,861,797 (GRCm39) missense probably damaging 0.99
R2031:Cast UTSW 13 74,946,771 (GRCm39) splice site probably null
R2256:Cast UTSW 13 74,888,024 (GRCm39) missense probably damaging 0.99
R2509:Cast UTSW 13 74,885,735 (GRCm39) missense probably benign 0.19
R3923:Cast UTSW 13 74,876,532 (GRCm39) missense probably damaging 1.00
R4116:Cast UTSW 13 74,872,956 (GRCm39) missense probably damaging 1.00
R4649:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4651:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4652:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4653:Cast UTSW 13 74,894,133 (GRCm39) missense probably benign 0.25
R4714:Cast UTSW 13 74,946,834 (GRCm39) missense probably damaging 1.00
R4751:Cast UTSW 13 74,894,166 (GRCm39) missense probably damaging 1.00
R4758:Cast UTSW 13 74,887,999 (GRCm39) missense possibly damaging 0.90
R4974:Cast UTSW 13 74,955,942 (GRCm39) missense probably benign
R5040:Cast UTSW 13 74,872,932 (GRCm39) missense probably damaging 1.00
R5397:Cast UTSW 13 74,869,056 (GRCm39) missense possibly damaging 0.83
R5556:Cast UTSW 13 74,844,008 (GRCm39) critical splice donor site probably null
R5863:Cast UTSW 13 74,884,875 (GRCm39) missense probably damaging 1.00
R6030:Cast UTSW 13 74,844,056 (GRCm39) missense possibly damaging 0.83
R6030:Cast UTSW 13 74,844,056 (GRCm39) missense possibly damaging 0.83
R6349:Cast UTSW 13 74,869,314 (GRCm39) missense probably damaging 1.00
R6817:Cast UTSW 13 74,847,277 (GRCm39) missense possibly damaging 0.78
R6829:Cast UTSW 13 74,876,463 (GRCm39) missense possibly damaging 0.50
R6848:Cast UTSW 13 74,844,052 (GRCm39) missense possibly damaging 0.66
R7275:Cast UTSW 13 74,875,453 (GRCm39) missense probably benign 0.00
R7401:Cast UTSW 13 74,956,577 (GRCm39) missense unknown
R7408:Cast UTSW 13 74,887,960 (GRCm39) missense probably damaging 0.99
R7602:Cast UTSW 13 74,885,084 (GRCm39) missense probably benign 0.26
R8032:Cast UTSW 13 74,883,360 (GRCm39) nonsense probably null
R8499:Cast UTSW 13 74,946,835 (GRCm39) missense probably benign 0.07
R8557:Cast UTSW 13 74,852,301 (GRCm39) missense probably damaging 1.00
R8709:Cast UTSW 13 74,892,780 (GRCm39) missense probably damaging 0.96
X0011:Cast UTSW 13 74,873,575 (GRCm39) missense probably damaging 1.00
X0066:Cast UTSW 13 74,885,098 (GRCm39) missense probably damaging 1.00
Z1177:Cast UTSW 13 74,873,582 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGGAATTTCCACCAGGGTTAATAC -3'
(R):5'- ATGACTCCCAGGAACTCTGC -3'

Sequencing Primer
(F):5'- TCCACCAGGGTTAATACTTTCTC -3'
(R):5'- CCTGAGTCTGAATTGGCCCAG -3'
Posted On 2021-01-18