Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:Cast'

351429

Institutional Source

Beutler Lab

Gene Symbol

Cast

Ensembl Gene

ENSMUSG00000021585

Gene Name

calpastatin

Synonyms

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4652 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74840487-74956929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74894133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 171 (S171P)

Ref Sequence

ENSEMBL: ENSMUSP00000152174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065629] [ENSMUST00000222588] [ENSMUST00000223033] [ENSMUST00000223126] [ENSMUST00000223206] [ENSMUST00000231578]

AlphaFold

P51125

Predicted Effect

probably benign
Transcript: ENSMUST00000065629
AA Change: S137P

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: S137P

Domain	Start	End	E-Value	Type
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: ENSMUST00000222588
AA Change: S69P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000223033
AA Change: S88P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223126
AA Change: S69P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000223206
AA Change: S171P

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000231578
AA Change: S152P

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
A830018L16Rik	C	A	1: 11,607,566 (GRCm39)		probably benign	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Cast

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTGCCAAAATCTACCTGCTAGCC -3'
(R):5'- TGGGATCTACTACCACTTGGAG -3'

Sequencing Primer
(F):5'- AAAATCTACCTGCTAGCCTTCCTCAG -3'
(R):5'- ACCACTTGGAGTCTTCAGTG -3'

Posted On

2015-10-08