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

Essential gene?

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

Stock #

R5386 (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 125332279 bp (GRCm39)

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
Abcc12	T	G	8: 87,244,118 (GRCm39)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,718,968 (GRCm39)	G33R	probably benign	Het
Agbl3	G	T	6: 34,776,131 (GRCm39)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Ak2	T	C	4: 128,901,965 (GRCm39)	S213P	probably benign	Het
Alk	T	A	17: 72,182,007 (GRCm39)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,301,761 (GRCm39)	S416G	probably damaging	Het
Ank2	C	T	3: 126,775,582 (GRCm39)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,828,482 (GRCm39)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,126,011 (GRCm39)	L34Q	probably null	Het
Aspg	T	A	12: 112,089,466 (GRCm39)	V418E	probably benign	Het
Baz1b	C	T	5: 135,266,913 (GRCm39)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,201,338 (GRCm39)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,009,169 (GRCm39)	D225E	probably damaging	Het
Card14	C	T	11: 119,208,115 (GRCm39)	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,887,383 (GRCm39)	N1271S	probably benign	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdv3	T	C	9: 103,232,429 (GRCm39)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,966,345 (GRCm39)	S1087R	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Chit1	T	G	1: 134,077,192 (GRCm39)	F332V	probably damaging	Het
Chodl	C	A	16: 78,743,585 (GRCm39)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cplane1	G	A	15: 8,223,897 (GRCm39)	G887R	probably damaging	Het
Cyp3a59	A	G	5: 146,022,578 (GRCm39)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,165,951 (GRCm39)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah9	T	C	11: 65,920,182 (GRCm39)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,207 (GRCm39)	I337V	probably benign	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Elmo1	T	C	13: 20,784,380 (GRCm39)	Y646H	probably benign	Het
Eps15	T	A	4: 109,178,422 (GRCm39)	I220K	possibly damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm39)	Q234*	probably null	Het
Garre1	A	G	7: 33,941,813 (GRCm39)	F120L	probably damaging	Het
Gid4	T	A	11: 60,323,268 (GRCm39)		probably null	Het
Gm7361	A	C	5: 26,463,903 (GRCm39)	T53P	probably benign	Het
Golgb1	T	A	16: 36,732,677 (GRCm39)	C641*	probably null	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,768,671 (GRCm39)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,908,089 (GRCm39)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,092,967 (GRCm39)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,990,867 (GRCm39)	E713G	probably benign	Het
Hmx3	A	G	7: 131,146,033 (GRCm39)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,513,163 (GRCm39)	E143*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Il17f	T	C	1: 20,848,181 (GRCm39)	Q99R	probably benign	Het
Itga6	T	A	2: 71,671,494 (GRCm39)	S341R	probably damaging	Het
Itgam	A	G	7: 127,707,152 (GRCm39)	N661S	probably benign	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 53,033,023 (GRCm39)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,291,636 (GRCm39)		probably benign	Het
Keg1	A	C	19: 12,691,902 (GRCm39)	N63T	probably damaging	Het
Klf12	T	A	14: 100,137,595 (GRCm39)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,427,983 (GRCm39)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,541,766 (GRCm39)	E102*	probably null	Het
Napa	A	T	7: 15,850,397 (GRCm39)	E265D	probably benign	Het
Ncam1	A	C	9: 49,476,174 (GRCm39)	V305G	probably damaging	Het
Nek8	T	C	11: 78,061,263 (GRCm39)		probably null	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or4a70	G	T	2: 89,324,481 (GRCm39)	Y58*	probably null	Het
Or4f52	T	C	2: 111,061,539 (GRCm39)	T200A	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Or5ak4	T	C	2: 85,161,979 (GRCm39)	T88A	probably benign	Het
Or5h23	T	A	16: 58,906,253 (GRCm39)	M198L	probably benign	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Pabpc4	A	G	4: 123,188,790 (GRCm39)	Q417R	probably benign	Het
Panx3	A	T	9: 37,580,320 (GRCm39)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,078,954 (GRCm39)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm39)	Q372L	probably benign	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,730,422 (GRCm39)	E102*	probably null	Het
Pnlip	A	G	19: 58,668,039 (GRCm39)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Prxl2b	T	A	4: 154,983,462 (GRCm39)	M1L	probably benign	Het
Ptch1	A	G	13: 63,692,857 (GRCm39)	Y181H	probably damaging	Het
Reln	A	G	5: 22,244,527 (GRCm39)	V817A	probably benign	Het
Rictor	C	A	15: 6,818,985 (GRCm39)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,482,469 (GRCm39)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,185 (GRCm39)	V618A	probably benign	Het
Ryr1	A	T	7: 28,816,841 (GRCm39)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Serpine2	A	T	1: 79,799,004 (GRCm39)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc14a2	T	A	18: 78,229,055 (GRCm39)	D306V	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a10	A	T	2: 62,120,402 (GRCm39)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,280,982 (GRCm39)	C152S	probably damaging	Het
Snx10	T	C	6: 51,552,952 (GRCm39)	Y32H	probably damaging	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,866 (GRCm39)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,881,887 (GRCm39)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,120,302 (GRCm39)	V47A	probably benign	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmco2	A	G	4: 120,963,181 (GRCm39)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,911,639 (GRCm39)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,489,891 (GRCm39)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,286,568 (GRCm39)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 103,798,424 (GRCm39)	I358L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,674 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,041,110 (GRCm39)	H538N	possibly 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
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
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
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'- GGACATGATAGTAATCCACCCC -3'
(R):5'- TGATGAACGTCTTGCTTCGG -3'

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

Posted On

2016-08-04