Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Capn9'

176799

Institutional Source

Beutler Lab

Gene Symbol

Capn9

Ensembl Gene

ENSMUSG00000031981

Gene Name

calpain 9

Synonyms

GC36, nCL-4

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R1611 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

125302850-125345470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125338251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 537 (V537M)

Ref Sequence

ENSEMBL: ENSMUSP00000090717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093033]

AlphaFold

Q9D805

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093033
AA Change: V537M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: V537M

Domain	Start	End	E-Value	Type
CysPc	24	345	1.53e-196	SMART
calpain_III	348	494	1.91e-87	SMART
low complexity region	504	522	N/A	INTRINSIC
EFh	565	593	1.25e-2	SMART
EFh	595	623	2.64e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133583

Meta Mutation Damage Score

0.3423

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Capn9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Capn9	APN	8	125,318,508 (GRCm39)	missense	probably benign
IGL01987:Capn9	APN	8	125,302,965 (GRCm39)	missense	probably benign	0.01
IGL02150:Capn9	APN	8	125,340,582 (GRCm39)	missense	probably benign	0.01
IGL02348:Capn9	APN	8	125,321,416 (GRCm39)	missense	probably damaging	1.00
IGL02720:Capn9	APN	8	125,327,236 (GRCm39)	splice site	probably benign
IGL02723:Capn9	APN	8	125,335,922 (GRCm39)	splice site	probably benign
IGL03065:Capn9	APN	8	125,332,298 (GRCm39)	missense	probably damaging	1.00
IGL03169:Capn9	APN	8	125,332,616 (GRCm39)	missense	probably damaging	1.00
A2778:Capn9	UTSW	8	125,332,217 (GRCm39)	missense	possibly damaging	0.95
R0288:Capn9	UTSW	8	125,327,230 (GRCm39)	splice site	probably benign
R1353:Capn9	UTSW	8	125,332,305 (GRCm39)	splice site	probably null
R1672:Capn9	UTSW	8	125,340,570 (GRCm39)	missense	probably benign	0.03
R1682:Capn9	UTSW	8	125,338,304 (GRCm39)	splice site	probably null
R1729:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1739:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1762:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1783:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1784:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1785:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R1836:Capn9	UTSW	8	125,332,304 (GRCm39)	critical splice donor site	probably null
R1883:Capn9	UTSW	8	125,338,297 (GRCm39)	missense	probably benign
R1924:Capn9	UTSW	8	125,302,965 (GRCm39)	missense	probably benign	0.01
R2008:Capn9	UTSW	8	125,318,424 (GRCm39)	missense	probably damaging	1.00
R2049:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R2069:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R2131:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R2141:Capn9	UTSW	8	125,332,450 (GRCm39)	missense	possibly damaging	0.90
R2219:Capn9	UTSW	8	125,335,898 (GRCm39)	nonsense	probably null
R4193:Capn9	UTSW	8	125,327,225 (GRCm39)	missense	probably null	0.00
R4707:Capn9	UTSW	8	125,340,195 (GRCm39)	missense	possibly damaging	0.82
R5092:Capn9	UTSW	8	125,324,264 (GRCm39)	missense	probably damaging	1.00
R5386:Capn9	UTSW	8	125,332,279 (GRCm39)	missense	possibly damaging	0.83
R5697:Capn9	UTSW	8	125,315,810 (GRCm39)	missense	unknown
R5734:Capn9	UTSW	8	125,332,583 (GRCm39)	missense	probably damaging	1.00
R5999:Capn9	UTSW	8	125,315,817 (GRCm39)	missense	probably damaging	1.00
R6026:Capn9	UTSW	8	125,332,601 (GRCm39)	missense	probably damaging	1.00
R6298:Capn9	UTSW	8	125,344,193 (GRCm39)	missense	probably benign
R6787:Capn9	UTSW	8	125,342,924 (GRCm39)	missense	probably benign	0.00
R6856:Capn9	UTSW	8	125,324,308 (GRCm39)	missense	probably damaging	1.00
R7131:Capn9	UTSW	8	125,303,017 (GRCm39)	missense	probably damaging	1.00
R7149:Capn9	UTSW	8	125,332,448 (GRCm39)	missense	probably benign	0.00
R7975:Capn9	UTSW	8	125,325,515 (GRCm39)	missense	probably damaging	1.00
R8086:Capn9	UTSW	8	125,334,692 (GRCm39)	critical splice acceptor site	probably null
R9197:Capn9	UTSW	8	125,340,600 (GRCm39)	missense	probably damaging	0.98
R9366:Capn9	UTSW	8	125,332,280 (GRCm39)	missense	probably benign	0.24
R9415:Capn9	UTSW	8	125,332,449 (GRCm39)	missense	probably benign	0.00
R9472:Capn9	UTSW	8	125,325,534 (GRCm39)	critical splice donor site	probably null
RF015:Capn9	UTSW	8	125,345,221 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTCCTGTAGAGACGTACAAGGAC -3'
(R):5'- ACACATGGATGTCAGCAATGGTCAG -3'

Sequencing Primer
(F):5'- GACGTACAAGGACCTATTTGCTC -3'
(R):5'- TCAGCAATGGTCAGCAGGTC -3'

Posted On

2014-04-24