Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Cast'

574190

Institutional Source

Beutler Lab

Gene Symbol

Cast

Ensembl Gene

ENSMUSG00000021585

Gene Name

calpastatin

Synonyms

MMRRC Submission

045483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7401 (G1)

Quality Score

187.009

Status

Not validated

Chromosome

Chromosomal Location

74840487-74956929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74956577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 18 (A18E)

Ref Sequence

ENSEMBL: ENSMUSP00000152174 (fasta)

Gene Model

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

AlphaFold

P51125

Predicted Effect

probably benign
Transcript: ENSMUST00000065629

SMART Domains

Protein: ENSMUSP00000065275
Gene: ENSMUSG00000021585

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

unknown
Transcript: ENSMUST00000223206
AA Change: A18E

Predicted Effect

unknown
Transcript: ENSMUST00000231578
AA Change: A18E

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Gmeb1	C	A	4: 131,953,085 (GRCm39)	L560F	probably damaging	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Neurod1	T	A	2: 79,285,290 (GRCm39)	D31V	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or4a72	A	G	2: 89,405,449 (GRCm39)	V207A	probably benign	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743 (GRCm39)	D265E	probably damaging	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	possibly 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
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
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'- AATTCGGAGAGCCTTTAGCC -3'
(R):5'- AAGTTGGGCTCTCTGCAGTG -3'

Sequencing Primer
(F):5'- AGAGCCTTTAGCCACCTGC -3'
(R):5'- TCGGAAAAGCTGCCTCACTGAG -3'

Posted On

2019-09-13