Incidental Mutation 'R6030:Cast'
ID 486227
Institutional Source Beutler Lab
Gene Symbol Cast
Ensembl Gene ENSMUSG00000021585
Gene Name calpastatin
Synonyms
MMRRC Submission 044202-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 74840487-74956929 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74844056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 693 (S693P)
Ref Sequence ENSEMBL: ENSMUSP00000152118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000169114] [ENSMUST00000220738] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223309] [ENSMUST00000223206]
AlphaFold P51125
Predicted Effect possibly damaging
Transcript: ENSMUST00000065629
AA Change: S743P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: S743P

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 unknown
Transcript: ENSMUST00000220738
AA Change: S434P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221873
Predicted Effect unknown
Transcript: ENSMUST00000222588
AA Change: S675P
Predicted Effect possibly damaging
Transcript: ENSMUST00000223033
AA Change: S693P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect unknown
Transcript: ENSMUST00000223126
AA Change: S663P
Predicted Effect unknown
Transcript: ENSMUST00000223309
AA Change: S420P
Predicted Effect possibly damaging
Transcript: ENSMUST00000223206
AA Change: S777P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null 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
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'- CACAATAAGCCCTTTAGTGCTTG -3'
(R):5'- CAGAGCATGTTTGTGTCAAATGAAG -3'

Sequencing Primer
(F):5'- ACTTTGAACTTCGCAAGCTATGGG -3'
(R):5'- TGAAGAATATAGACCAGGCCAC -3'
Posted On 2017-08-16