Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Cast'

353466

Institutional Source

Beutler Lab

Gene Symbol

Cast

Ensembl Gene

ENSMUSG00000021585

Gene Name

calpastatin

Synonyms

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74840487-74956929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74946834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 27 (V27I)

Ref Sequence

ENSEMBL: ENSMUSP00000155983 (fasta)

Gene Model

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

AlphaFold

P51125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065629
AA Change: V12I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585
AA Change: V12I

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

noncoding transcript
Transcript: ENSMUST00000223123

Predicted Effect

probably damaging
Transcript: ENSMUST00000223206
AA Change: V27I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231578
AA Change: V27I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Champ1	T	C	8: 13,928,063 (GRCm39)	Y74H	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Hif3a	A	G	7: 16,790,196 (GRCm39)	L69P	probably damaging	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Necab2	T	C	8: 120,194,334 (GRCm39)	L270P	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or1j1	A	T	2: 36,703,047 (GRCm39)	I19N	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,831,564 (GRCm39)	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	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
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
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'- TACATGTGCACCCATGGCAC -3'
(R):5'- ATTCTCTAGGGAAACATCAAGAGGG -3'

Sequencing Primer
(F):5'- CGCCAATTGTCAAGTAAGTATACC -3'
(R):5'- GAGGCAATTGTCTTAAATCAC -3'

Posted On

2015-10-21