Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Capn10'

366113

Institutional Source

Beutler Lab

Gene Symbol

Capn10

Ensembl Gene

ENSMUSG00000026270

Gene Name

calpain 10

Synonyms

Capn8

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92862130-92875670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92871141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 101 (I101T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027488] [ENSMUST00000117814] [ENSMUST00000152983]

AlphaFold

Q9ESK3

Predicted Effect

probably benign
Transcript: ENSMUST00000027488
AA Change: I317T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027488
Gene: ENSMUSG00000026270
AA Change: I317T

Domain	Start	End	E-Value	Type
CysPc	2	329	1.75e-59	SMART
calpain_III	338	488	2.05e-60	SMART
calpain_III	507	645	1.3e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117814

SMART Domains

Protein: ENSMUSP00000112831
Gene: ENSMUSG00000026270

Domain	Start	End	E-Value	Type
CysPc	2	263	1.29e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136598

Predicted Effect

probably benign
Transcript: ENSMUST00000152983
AA Change: I317T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122158
Gene: ENSMUSG00000026270
AA Change: I317T

Domain	Start	End	E-Value	Type
CysPc	2	329	1.75e-59	SMART
calpain_III	338	488	2.71e-60	SMART
low complexity region	490	499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153828

Predicted Effect

probably damaging
Transcript: ENSMUST00000187342
AA Change: I101T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191563

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains represent a 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 catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,236,016 (GRCm39)	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or4k48	T	C	2: 111,476,226 (GRCm39)	M39V	probably benign	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307 (GRCm39)	T76A	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zfp512b	T	C	2: 181,226,888 (GRCm39)		probably benign	Het
Zyx	C	A	6: 42,333,093 (GRCm39)		probably null	Het

Other mutations in Capn10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Capn10	APN	1	92,870,281 (GRCm39)	missense	probably benign	0.00
IGL01071:Capn10	APN	1	92,872,797 (GRCm39)	missense	probably damaging	1.00
IGL01682:Capn10	APN	1	92,868,106 (GRCm39)	missense	probably benign	0.16
IGL01771:Capn10	APN	1	92,868,087 (GRCm39)	missense	probably damaging	1.00
IGL02952:Capn10	APN	1	92,872,896 (GRCm39)	missense	probably damaging	0.97
IGL03177:Capn10	APN	1	92,862,704 (GRCm39)	missense	probably benign	0.02
IGL03224:Capn10	APN	1	92,867,046 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Capn10	UTSW	1	92,867,116 (GRCm39)	missense	probably damaging	1.00
R1256:Capn10	UTSW	1	92,874,668 (GRCm39)	missense	probably damaging	1.00
R1405:Capn10	UTSW	1	92,872,744 (GRCm39)	missense	probably benign	0.34
R1405:Capn10	UTSW	1	92,872,744 (GRCm39)	missense	probably benign	0.34
R1653:Capn10	UTSW	1	92,874,620 (GRCm39)	missense	probably damaging	1.00
R1737:Capn10	UTSW	1	92,862,677 (GRCm39)	missense	probably benign	0.10
R2127:Capn10	UTSW	1	92,865,756 (GRCm39)	nonsense	probably null
R2433:Capn10	UTSW	1	92,870,247 (GRCm39)	missense	probably benign	0.22
R2484:Capn10	UTSW	1	92,872,565 (GRCm39)	missense	probably damaging	0.97
R4004:Capn10	UTSW	1	92,868,313 (GRCm39)	missense	probably damaging	0.98
R4005:Capn10	UTSW	1	92,868,313 (GRCm39)	missense	probably damaging	0.98
R4560:Capn10	UTSW	1	92,867,084 (GRCm39)	missense	probably damaging	1.00
R4684:Capn10	UTSW	1	92,871,503 (GRCm39)	missense	probably damaging	1.00
R4996:Capn10	UTSW	1	92,872,858 (GRCm39)	missense	probably damaging	1.00
R5665:Capn10	UTSW	1	92,865,653 (GRCm39)	splice site	probably null
R5733:Capn10	UTSW	1	92,871,635 (GRCm39)	missense	probably benign	0.03
R5937:Capn10	UTSW	1	92,867,105 (GRCm39)	missense	probably damaging	1.00
R6985:Capn10	UTSW	1	92,871,146 (GRCm39)	missense	probably damaging	1.00
R7140:Capn10	UTSW	1	92,872,993 (GRCm39)	missense	possibly damaging	0.85
R7495:Capn10	UTSW	1	92,871,092 (GRCm39)	missense	probably damaging	1.00
R8170:Capn10	UTSW	1	92,862,686 (GRCm39)	missense	probably damaging	0.98
R8393:Capn10	UTSW	1	92,871,130 (GRCm39)	missense	probably benign	0.09
R8943:Capn10	UTSW	1	92,871,454 (GRCm39)	missense	probably damaging	1.00
R9303:Capn10	UTSW	1	92,871,665 (GRCm39)	critical splice donor site	probably null
R9305:Capn10	UTSW	1	92,871,665 (GRCm39)	critical splice donor site	probably null
R9655:Capn10	UTSW	1	92,867,111 (GRCm39)	missense	probably damaging	1.00
R9776:Capn10	UTSW	1	92,871,586 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TGGCAAAAGTTTGAGGCTCTC -3'
(R):5'- CTGAGGTAAGCAGACCAGTG -3'

Sequencing Primer
(F):5'- AAAGTTTGAGGCTCTCCACCC -3'
(R):5'- GACCAGTGGCAGTCAACTC -3'

Posted On

2015-12-21