Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Capn9'

425231

Institutional Source

Beutler Lab

Gene Symbol

Capn9

Ensembl Gene

ENSMUSG00000031981

Gene Name

calpain 9

Synonyms

GC36, nCL-4

Accession Numbers

Genbank: NM_023709; MGI: 1920897

Essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R5386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124576111-124618731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124605540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 417 (T417A)

Ref Sequence

ENSEMBL: ENSMUSP00000090717 (fasta)

Gene Model

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

AlphaFold

Q9D805

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093033
AA Change: T417A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090717
Gene: ENSMUSG00000031981
AA Change: T417A

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,194,413	G887R	probably damaging	Het
4931406P16Rik	A	G	7: 34,242,388	F120L	probably damaging	Het
Abcc12	T	G	8: 86,517,489	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,828,142	G33R	probably benign	Het
Agbl3	G	T	6: 34,799,196	W207C	probably damaging	Het
Ajuba	T	C	14: 54,570,398	Y459C	probably damaging	Het
Ak2	T	C	4: 129,008,172	S213P	probably benign	Het
Alk	T	A	17: 71,875,012	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,438,365	S416G	probably damaging	Het
Ank2	C	T	3: 126,981,933	V854M	probably benign	Het
Ankrd61	G	T	5: 143,891,664	N122K	possibly damaging	Het
Armc9	T	A	1: 86,198,289	L34Q	probably null	Het
Aspg	T	A	12: 112,123,032	V418E	probably benign	Het
Baz1b	C	T	5: 135,238,059	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,325,592	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,004,358	D225E	probably damaging	Het
Card14	C	T	11: 119,317,289	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,730,041	N1271S	probably benign	Het
Ccpg1	G	A	9: 73,013,044	S647N	probably benign	Het
Cdv3	T	C	9: 103,355,230	K133R	possibly damaging	Het
Cep128	A	C	12: 90,999,571	S1087R	probably benign	Het
Cep70	T	A	9: 99,281,075	L325Q	probably damaging	Het
Chit1	T	G	1: 134,149,454	F332V	probably damaging	Het
Chodl	C	A	16: 78,946,697	T219K	probably damaging	Het
Cntn4	T	C	6: 106,181,804	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207	M87I	possibly damaging	Het
Cyp3a59	A	G	5: 146,085,768	Y28C	probably benign	Het
Dchs1	A	C	7: 105,758,029	V2119G	probably damaging	Het
Dedd	T	C	1: 171,338,383	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,378,757	S2715P	probably benign	Het
Dnah9	T	C	11: 66,029,356	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,121	I337V	probably benign	Het
Duox2	A	G	2: 122,295,136	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993	Q61L	possibly damaging	Het
Ears2	G	C	7: 122,044,377	T426S	probably benign	Het
Elmo1	T	C	13: 20,600,210	Y646H	probably benign	Het
Eps15	T	A	4: 109,321,225	I220K	possibly damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,437,867	V689L	possibly damaging	Het
Fam213b	T	A	4: 154,899,005	M1L	probably benign	Het
Fam91a1	G	A	15: 58,448,394	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076	Q234*	probably null	Het
Gid4	T	A	11: 60,432,442		probably null	Het
Gm14085	C	A	2: 122,522,778	L480I	probably benign	Het
Gm7361	A	C	5: 26,258,905	T53P	probably benign	Het
Golgb1	T	A	16: 36,912,315	C641*	probably null	Het
Gon4l	T	A	3: 88,858,496	M409K	probably benign	Het
Gpatch8	A	T	11: 102,508,227		probably null	Het
Gpr156	T	A	16: 37,948,309	V64E	possibly damaging	Het
Grid2	T	A	6: 63,931,105	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,215,116	A750V	probably damaging	Het
Hdac5	T	C	11: 102,202,141	E590G	possibly damaging	Het
Herc3	T	A	6: 58,874,278	M504K	probably damaging	Het
Hif1a	A	G	12: 73,944,093	E713G	probably benign	Het
Hmx3	A	G	7: 131,544,304	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,682,819	E143*	probably null	Het
Ifitm3	T	C	7: 141,010,641	N2S	probably benign	Het
Il17f	T	C	1: 20,777,957	Q99R	probably benign	Het
Itga6	T	A	2: 71,841,150	S341R	probably damaging	Het
Itgam	A	G	7: 128,107,980	N661S	probably benign	Het
Jag1	A	T	2: 137,095,544	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 52,725,995	N103K	probably benign	Het
Kdm6b	T	C	11: 69,400,810		probably benign	Het
Keg1	A	C	19: 12,714,538	N63T	probably damaging	Het
Klf12	T	A	14: 99,900,159	H317L	probably damaging	Het
Lrp1	A	T	10: 127,592,114	V530E	probably damaging	Het
Mrgpra6	A	G	7: 47,188,881	C190R	probably damaging	Het
Myo1a	G	T	10: 127,705,897	E102*	probably null	Het
Napa	A	T	7: 16,116,472	E265D	probably benign	Het
Ncam1	A	C	9: 49,564,874	V305G	probably damaging	Het
Nek8	T	C	11: 78,170,437		probably null	Het
Olfr1115	C	T	2: 87,252,483	P182L	probably benign	Het
Olfr1242	G	T	2: 89,494,137	Y58*	probably null	Het
Olfr1275	T	C	2: 111,231,194	T200A	probably benign	Het
Olfr191	T	A	16: 59,085,890	M198L	probably benign	Het
Olfr243	T	C	7: 103,717,355	F254L	probably benign	Het
Olfr251	A	T	9: 38,377,985	I29F	probably benign	Het
Olfr739	T	A	14: 50,425,389	V290E	possibly damaging	Het
Olfr971	A	G	9: 39,839,830	Y132C	possibly damaging	Het
Olfr987	T	C	2: 85,331,635	T88A	probably benign	Het
Pabpc4	A	G	4: 123,294,997	Q417R	probably benign	Het
Panx3	A	T	9: 37,669,024	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,525,489	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,358,692	W477*	probably null	Het
Pi4k2a	G	A	19: 42,090,515	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075	Q372L	probably benign	Het
Plce1	C	A	19: 38,760,091	N1755K	probably damaging	Het
Pld4	G	T	12: 112,763,988	E102*	probably null	Het
Pnlip	A	G	19: 58,679,607	N345S	probably benign	Het
Ppm1e	A	T	11: 87,358,551	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,639,278	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799	D1038G	probably damaging	Het
Prss51	T	A	14: 64,097,094	V108E	probably damaging	Het
Ptch1	A	G	13: 63,545,043	Y181H	probably damaging	Het
Reln	A	G	5: 22,039,529	V817A	probably benign	Het
Rictor	C	A	15: 6,789,504	Q1403K	probably benign	Het
Rims1	T	A	1: 22,412,245	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,039	V618A	probably benign	Het
Ryr1	A	T	7: 29,117,416	I65N	probably damaging	Het
S1pr2	T	C	9: 20,967,594	T313A	probably benign	Het
Serpine2	A	T	1: 79,821,287	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sgsm3	T	C	15: 81,007,999	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469	C894*	probably null	Het
Slc14a2	T	A	18: 78,185,840	D306V	possibly damaging	Het
Slc4a10	A	T	2: 62,290,058	E843V	probably damaging	Het
Smyd4	T	A	11: 75,390,156	C152S	probably damaging	Het
Snx10	T	C	6: 51,575,972	Y32H	probably damaging	Het
Sorl1	T	C	9: 42,057,284	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,719,052	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,187,301	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Tecpr2	T	C	12: 110,915,453	V152A	probably damaging	Het
Tedc1	T	C	12: 113,156,682	V47A	probably benign	Het
Tep1	A	T	14: 50,868,317	L82Q	probably damaging	Het
Tgm4	A	G	9: 123,056,494	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844	G32D	possibly damaging	Het
Tmco2	A	G	4: 121,105,984	L106P	probably damaging	Het
Tmem131	A	T	1: 36,872,558	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,669,528	I444F	possibly damaging	Het
Trank1	T	C	9: 111,362,402	V493A	probably benign	Het
Trim80	A	T	11: 115,448,017	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783	A302S	probably benign	Het
Ttc17	A	T	2: 94,303,640	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,236,293	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 104,149,217	I358L	probably benign	Het
Ulk3	T	A	9: 57,590,740	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,528		probably null	Het
Vwa3a	A	G	7: 120,790,142	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,064,176	H538N	possibly damaging	Het

Other mutations in Capn9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Capn9	APN	8	124591769	missense	probably benign
IGL01987:Capn9	APN	8	124576226	missense	probably benign	0.01
IGL02150:Capn9	APN	8	124613843	missense	probably benign	0.01
IGL02348:Capn9	APN	8	124594677	missense	probably damaging	1.00
IGL02720:Capn9	APN	8	124600497	splice site	probably benign
IGL02723:Capn9	APN	8	124609183	splice site	probably benign
IGL03065:Capn9	APN	8	124605559	missense	probably damaging	1.00
IGL03169:Capn9	APN	8	124605877	missense	probably damaging	1.00
A2778:Capn9	UTSW	8	124605478	missense	possibly damaging	0.95
R0288:Capn9	UTSW	8	124600491	splice site	probably benign
R1353:Capn9	UTSW	8	124605566	splice site	probably null
R1611:Capn9	UTSW	8	124611512	missense	possibly damaging	0.90
R1672:Capn9	UTSW	8	124613831	missense	probably benign	0.03
R1682:Capn9	UTSW	8	124611565	splice site	probably null
R1729:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1739:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1762:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1783:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1784:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1785:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R1836:Capn9	UTSW	8	124605565	critical splice donor site	probably null
R1883:Capn9	UTSW	8	124611558	missense	probably benign
R1924:Capn9	UTSW	8	124576226	missense	probably benign	0.01
R2008:Capn9	UTSW	8	124591685	missense	probably damaging	1.00
R2049:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R2069:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R2131:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R2141:Capn9	UTSW	8	124605711	missense	possibly damaging	0.90
R2219:Capn9	UTSW	8	124609159	nonsense	probably null
R4193:Capn9	UTSW	8	124600486	missense	probably null	0.00
R4707:Capn9	UTSW	8	124613456	missense	possibly damaging	0.82
R5092:Capn9	UTSW	8	124597525	missense	probably damaging	1.00
R5697:Capn9	UTSW	8	124589071	missense	unknown
R5734:Capn9	UTSW	8	124605844	missense	probably damaging	1.00
R5999:Capn9	UTSW	8	124589078	missense	probably damaging	1.00
R6026:Capn9	UTSW	8	124605862	missense	probably damaging	1.00
R6298:Capn9	UTSW	8	124617454	missense	probably benign
R6787:Capn9	UTSW	8	124616185	missense	probably benign	0.00
R6856:Capn9	UTSW	8	124597569	missense	probably damaging	1.00
R7131:Capn9	UTSW	8	124576278	missense	probably damaging	1.00
R7149:Capn9	UTSW	8	124605709	missense	probably benign	0.00
R7975:Capn9	UTSW	8	124598776	missense	probably damaging	1.00
R8086:Capn9	UTSW	8	124607953	critical splice acceptor site	probably null
R9197:Capn9	UTSW	8	124613861	missense	probably damaging	0.98
R9366:Capn9	UTSW	8	124605541	missense	probably benign	0.24
R9415:Capn9	UTSW	8	124605710	missense	probably benign	0.00
R9472:Capn9	UTSW	8	124598795	critical splice donor site	probably null
RF015:Capn9	UTSW	8	124618482	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACATGATAGTAATCCACCCC -3'
(R):5'- TGATGAACGTCTTGCTTCGG -3'

Sequencing Primer
(F):5'- GACATGATAGTAATCCACCCCCTTTC -3'
(R):5'- TGAAAAAGTCCCTACTCAGGTGTC -3'

Posted On

2016-08-04