Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Capn13'

237398

Institutional Source

Beutler Lab

Gene Symbol

Capn13

Ensembl Gene

ENSMUSG00000043705

Gene Name

calpain 13

Synonyms

LOC381122

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73613451-73706376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73672943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 120 (Y120C)

Ref Sequence

ENSEMBL: ENSMUSP00000092832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095208]

AlphaFold

Q3UW68

Predicted Effect

probably damaging
Transcript: ENSMUST00000095208
AA Change: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: Y120C

Domain	Start	End	E-Value	Type
CysPc	12	337	3.23e-113	SMART
Pfam:Calpain_III	341	473	2e-13	PFAM
SCOP:d1k94a_	512	664	3e-8	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	probably damaging	Het

Other mutations in Capn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Capn13	APN	17	73,646,420 (GRCm39)	missense	possibly damaging	0.82
IGL01099:Capn13	APN	17	73,658,504 (GRCm39)	missense	probably damaging	0.99
IGL01613:Capn13	APN	17	73,638,053 (GRCm39)	missense	probably benign	0.07
IGL02215:Capn13	APN	17	73,637,993 (GRCm39)	missense	probably damaging	1.00
IGL02403:Capn13	APN	17	73,658,421 (GRCm39)	missense	possibly damaging	0.82
IGL02877:Capn13	APN	17	73,629,050 (GRCm39)	missense	probably damaging	0.97
IGL03113:Capn13	APN	17	73,638,108 (GRCm39)	missense	probably benign	0.00
IGL03246:Capn13	APN	17	73,689,855 (GRCm39)	missense	probably benign
IGL03369:Capn13	APN	17	73,648,149 (GRCm39)	splice site	probably benign
R0116:Capn13	UTSW	17	73,658,519 (GRCm39)	missense	probably damaging	1.00
R0729:Capn13	UTSW	17	73,629,064 (GRCm39)	missense	probably damaging	1.00
R0745:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R0746:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R0778:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R1252:Capn13	UTSW	17	73,674,222 (GRCm39)	missense	possibly damaging	0.80
R1594:Capn13	UTSW	17	73,658,474 (GRCm39)	missense	probably benign	0.15
R1641:Capn13	UTSW	17	73,689,889 (GRCm39)	missense	possibly damaging	0.91
R1895:Capn13	UTSW	17	73,657,520 (GRCm39)	missense	possibly damaging	0.50
R1902:Capn13	UTSW	17	73,633,356 (GRCm39)	missense	probably damaging	1.00
R1946:Capn13	UTSW	17	73,657,520 (GRCm39)	missense	possibly damaging	0.50
R2427:Capn13	UTSW	17	73,633,312 (GRCm39)	splice site	probably benign
R2963:Capn13	UTSW	17	73,622,258 (GRCm39)	critical splice donor site	probably null
R3755:Capn13	UTSW	17	73,638,114 (GRCm39)	nonsense	probably null
R3759:Capn13	UTSW	17	73,629,072 (GRCm39)	missense	probably benign	0.01
R3795:Capn13	UTSW	17	73,644,387 (GRCm39)	missense	probably benign	0.14
R3801:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3802:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3803:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3804:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R4084:Capn13	UTSW	17	73,644,444 (GRCm39)	missense	probably benign	0.00
R4194:Capn13	UTSW	17	73,646,479 (GRCm39)	missense	possibly damaging	0.48
R4326:Capn13	UTSW	17	73,638,103 (GRCm39)	missense	probably benign
R4788:Capn13	UTSW	17	73,644,427 (GRCm39)	nonsense	probably null
R4852:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R4853:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R4855:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R5063:Capn13	UTSW	17	73,629,074 (GRCm39)	nonsense	probably null
R5112:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R5438:Capn13	UTSW	17	73,633,479 (GRCm39)	missense	probably benign
R5955:Capn13	UTSW	17	73,637,997 (GRCm39)	missense	possibly damaging	0.92
R6408:Capn13	UTSW	17	73,672,954 (GRCm39)	nonsense	probably null
R6512:Capn13	UTSW	17	73,689,985 (GRCm39)	missense	probably benign	0.44
R7425:Capn13	UTSW	17	73,625,053 (GRCm39)	missense	probably benign	0.13
R7605:Capn13	UTSW	17	73,652,132 (GRCm39)	critical splice donor site	probably null
R7678:Capn13	UTSW	17	73,622,300 (GRCm39)	missense	probably damaging	1.00
R7776:Capn13	UTSW	17	73,629,049 (GRCm39)	missense	probably benign	0.07
R7791:Capn13	UTSW	17	73,689,883 (GRCm39)	missense	possibly damaging	0.88
R8087:Capn13	UTSW	17	73,623,279 (GRCm39)	missense	probably damaging	1.00
R8090:Capn13	UTSW	17	73,689,849 (GRCm39)	missense	probably benign	0.07
R8122:Capn13	UTSW	17	73,674,205 (GRCm39)	missense	probably damaging	1.00
R8169:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R8927:Capn13	UTSW	17	73,631,761 (GRCm39)	splice site	probably null
R9193:Capn13	UTSW	17	73,652,191 (GRCm39)	missense	probably damaging	1.00
R9299:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R9337:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R9497:Capn13	UTSW	17	73,633,362 (GRCm39)	missense	probably benign	0.08
R9509:Capn13	UTSW	17	73,644,446 (GRCm39)	missense	probably benign	0.10
R9616:Capn13	UTSW	17	73,672,964 (GRCm39)	missense	probably benign	0.40
Z1176:Capn13	UTSW	17	73,648,105 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTGACTGGGCCATTAAAAC -3'
(R):5'- TAGGGAGATTTGATATACAGAACCC -3'

Sequencing Primer
(F):5'- TGTGACTGGGCCATTAAAACAAAAC -3'
(R):5'- CCATAAAATTTAGGGGGTGGGGTTTC -3'

Posted On

2014-10-02