Incidental Mutation 'R5556:Cast'
ID 435410
Institutional Source Beutler Lab
Gene Symbol Cast
Ensembl Gene ENSMUSG00000021585
Gene Name calpastatin
Synonyms
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 74840487-74956929 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 74844008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000065629] [ENSMUST00000169114] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223309] [ENSMUST00000223206] [ENSMUST00000223126]
AlphaFold P51125
Predicted Effect probably null
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 probably null
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 probably benign
Transcript: ENSMUST00000169114
SMART Domains Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583

DomainStartEndE-ValueType
Pfam:Peptidase_M1 42 430 2.7e-135 PFAM
low complexity region 488 501 N/A INTRINSIC
Pfam:ERAP1_C 586 904 1.7e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221873
Predicted Effect probably null
Transcript: ENSMUST00000222588
Predicted Effect probably null
Transcript: ENSMUST00000223033
Predicted Effect probably null
Transcript: ENSMUST00000223309
Predicted Effect probably null
Transcript: ENSMUST00000223206
Predicted Effect probably null
Transcript: ENSMUST00000223126
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign 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
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
R8544:Cast UTSW 13 74,882,177 (GRCm39) missense possibly damaging 0.92
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'- ACAATAAGCCCTTTAGTGCTTGTTG -3'
(R):5'- CAGAGCATGTTTGTGTCAAATGAAG -3'

Sequencing Primer
(F):5'- GGGGAATGGAATACTTTGAACTTCGC -3'
(R):5'- TATAGACCAGGCCACCCTCTCTG -3'
Posted On 2016-10-24