Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Capn9'

318415

Institutional Source

Beutler Lab

Gene Symbol

Capn9

Ensembl Gene

ENSMUSG00000031981

Gene Name

calpain 9

Synonyms

GC36, nCL-4

MMRRC Submission

041024-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125302850-125345470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125327225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 292 (S292G)

Ref Sequence

ENSEMBL: ENSMUSP00000090717 (fasta)

Gene Model

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

AlphaFold

Q9D805

Predicted Effect

probably null
Transcript: ENSMUST00000093033
AA Change: S292G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: S292G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		probably benign	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
R1611:Capn9	UTSW	8	125,338,251 (GRCm39)	missense	possibly damaging	0.90
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
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'- CTGTGGTTTCCTCAAGAGCCTG -3'
(R):5'- CCATCCCAGGGAAAGAGTTG -3'

Sequencing Primer
(F):5'- GTTTCCTCAAGAGCCTGGGTAAC -3'
(R):5'- CATCCCAGGGAAAGAGTTGTTTATAG -3'

Posted On

2015-06-10