Mutagenetix > Incidental Mutation

Incidental Mutation 'R4651:Cast'

351325

Institutional Source

Beutler Lab

Gene Symbol

Cast

Ensembl Gene

ENSMUSG00000021585

Gene Name

calpastatin

Synonyms

MMRRC Submission

041911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4651 (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: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

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: 91 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
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,492,787 (GRCm39)	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,591,343 (GRCm39)	V543A	probably benign	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	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
Atp5f1c	A	G	2: 10,068,287 (GRCm39)	F180S	probably damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Ccnf	C	A	17: 24,450,760 (GRCm39)	R406L	probably damaging	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Cpox	G	T	16: 58,491,050 (GRCm39)	R87L	possibly damaging	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
Cyp3a25	T	C	5: 145,931,701 (GRCm39)	T136A	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Ehmt2	C	A	17: 35,132,790 (GRCm39)	N1171K	probably damaging	Het
Fanci	T	A	7: 79,085,004 (GRCm39)	M838K	possibly damaging	Het
Flot1	T	C	17: 36,143,436 (GRCm39)		probably benign	Het
Gad2	A	T	2: 22,558,374 (GRCm39)	D364V	probably damaging	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,364,265 (GRCm39)	C261Y	probably damaging	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kalrn	G	T	16: 33,996,761 (GRCm39)	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,084,076 (GRCm39)	H15N	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Lsm2	T	A	17: 35,204,571 (GRCm39)		probably benign	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
Mettl25b	T	C	3: 87,834,979 (GRCm39)	H107R	probably benign	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,753,752 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,389,407 (GRCm39)	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070 (GRCm39)	Y187F	probably damaging	Het
Nomo1	T	A	7: 45,717,866 (GRCm39)	I799N	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
Or6n2	A	G	1: 173,897,394 (GRCm39)	I177V	possibly damaging	Het
Or7g30	T	A	9: 19,352,591 (GRCm39)	C127*	probably null	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	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
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
Sdr42e1	T	C	8: 118,390,360 (GRCm39)	T94A	probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Shisa3	A	G	5: 67,765,992 (GRCm39)	D81G	probably damaging	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
Slc5a3	T	A	16: 91,874,090 (GRCm39)	V49E	probably benign	Het
Slc9c1	A	T	16: 45,367,756 (GRCm39)	*163L	probably null	Het
Smyd3	A	G	1: 178,871,306 (GRCm39)	Y358H	probably benign	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
Syne2	A	G	12: 76,036,013 (GRCm39)	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,024,633 (GRCm39)	P207Q	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
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Unc45a	T	C	7: 79,982,777 (GRCm39)	K383E	possibly damaging	Het
Usp7	A	C	16: 8,516,278 (GRCm39)		probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Wiz	C	T	17: 32,576,655 (GRCm39)	R624Q	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
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
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'- AAAATCTACCTGCTAGCCTTCC -3'
(R):5'- TGGGATCTACTACCACTTGGAGTC -3'

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

Posted On

2015-10-08