Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Caskin2'

226535

Institutional Source

Beutler Lab

Gene Symbol

Caskin2

Ensembl Gene

ENSMUSG00000034471

Gene Name

CASK-interacting protein 2

Synonyms

1600028L06Rik

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115690009-115704465 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 115697127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000132780] [ENSMUST00000156812]

AlphaFold

Q8VHK1

Predicted Effect

probably benign
Transcript: ENSMUST00000041684

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	2	32	1.27e3	SMART
ANK	48	77	3.01e-4	SMART
ANK	81	110	3.41e-3	SMART
ANK	114	143	1.4e-4	SMART
ANK	147	176	3.26e0	SMART
ANK	188	217	3.33e-6	SMART
ANK	220	249	4.82e-3	SMART
SH3	284	346	1.13e-6	SMART
SAM	485	551	8.53e-12	SMART
SAM	554	621	1.41e-12	SMART
low complexity region	762	774	N/A	INTRINSIC
Pfam:Caskin-Pro-rich	793	883	1.4e-32	PFAM
low complexity region	904	921	N/A	INTRINSIC
low complexity region	925	944	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1042	1069	N/A	INTRINSIC
low complexity region	1084	1090	N/A	INTRINSIC
low complexity region	1120	1132	N/A	INTRINSIC
Pfam:Caskin-tail	1144	1201	4.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132780

SMART Domains

Protein: ENSMUSP00000119158
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	27	56	3.01e-4	SMART
ANK	60	89	3.41e-3	SMART
ANK	93	122	1.4e-4	SMART
ANK	126	155	3.26e0	SMART
ANK	167	196	3.33e-6	SMART
ANK	199	228	4.82e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156812

SMART Domains

Protein: ENSMUSP00000114310
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	2	32	1.27e3	SMART
ANK	48	77	3.01e-4	SMART
ANK	81	110	3.41e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably damaging	Het

Other mutations in Caskin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Caskin2	APN	11	115,694,425 (GRCm39)	missense	probably benign	0.00
IGL01936:Caskin2	APN	11	115,695,543 (GRCm39)	missense	probably damaging	0.99
IGL02322:Caskin2	APN	11	115,695,303 (GRCm39)	missense	probably damaging	0.99
R0119:Caskin2	UTSW	11	115,693,253 (GRCm39)	unclassified	probably benign
R0127:Caskin2	UTSW	11	115,691,820 (GRCm39)	missense	probably damaging	1.00
R0565:Caskin2	UTSW	11	115,691,842 (GRCm39)	missense	probably damaging	1.00
R0741:Caskin2	UTSW	11	115,695,626 (GRCm39)	missense	probably damaging	1.00
R1332:Caskin2	UTSW	11	115,694,171 (GRCm39)	unclassified	probably benign
R1474:Caskin2	UTSW	11	115,694,522 (GRCm39)	missense	probably benign	0.05
R1720:Caskin2	UTSW	11	115,693,608 (GRCm39)	missense	probably damaging	1.00
R1968:Caskin2	UTSW	11	115,694,440 (GRCm39)	missense	probably benign	0.00
R2061:Caskin2	UTSW	11	115,694,456 (GRCm39)	missense	probably benign
R2893:Caskin2	UTSW	11	115,692,103 (GRCm39)	missense	probably benign	0.00
R3036:Caskin2	UTSW	11	115,697,182 (GRCm39)	missense	probably damaging	1.00
R3123:Caskin2	UTSW	11	115,695,623 (GRCm39)	missense	probably damaging	1.00
R3124:Caskin2	UTSW	11	115,695,623 (GRCm39)	missense	probably damaging	1.00
R4822:Caskin2	UTSW	11	115,698,125 (GRCm39)	missense	probably damaging	1.00
R5095:Caskin2	UTSW	11	115,691,564 (GRCm39)	missense	probably benign
R5654:Caskin2	UTSW	11	115,690,905 (GRCm39)	critical splice acceptor site	probably null
R5743:Caskin2	UTSW	11	115,693,115 (GRCm39)	missense	possibly damaging	0.66
R5801:Caskin2	UTSW	11	115,694,299 (GRCm39)	missense	probably damaging	1.00
R5808:Caskin2	UTSW	11	115,692,589 (GRCm39)	missense	probably damaging	1.00
R6259:Caskin2	UTSW	11	115,691,279 (GRCm39)	missense	probably damaging	1.00
R6618:Caskin2	UTSW	11	115,690,855 (GRCm39)	missense	possibly damaging	0.89
R7142:Caskin2	UTSW	11	115,697,562 (GRCm39)	missense	probably benign	0.29
R7192:Caskin2	UTSW	11	115,692,202 (GRCm39)	missense	probably damaging	1.00
R7247:Caskin2	UTSW	11	115,692,722 (GRCm39)	missense	probably benign
R7290:Caskin2	UTSW	11	115,695,615 (GRCm39)	missense	possibly damaging	0.63
R7451:Caskin2	UTSW	11	115,702,981 (GRCm39)	start gained	probably benign
R9126:Caskin2	UTSW	11	115,702,730 (GRCm39)	missense	possibly damaging	0.93
R9177:Caskin2	UTSW	11	115,698,683 (GRCm39)	missense	probably damaging	0.98
R9354:Caskin2	UTSW	11	115,693,468 (GRCm39)	missense	probably damaging	1.00
R9445:Caskin2	UTSW	11	115,694,576 (GRCm39)	missense	probably damaging	1.00
X0063:Caskin2	UTSW	11	115,697,238 (GRCm39)	missense	probably damaging	1.00
Z1176:Caskin2	UTSW	11	115,694,446 (GRCm39)	missense	probably benign	0.04
Z1176:Caskin2	UTSW	11	115,692,929 (GRCm39)	missense	probably damaging	1.00
Z1176:Caskin2	UTSW	11	115,692,922 (GRCm39)	missense	probably damaging	1.00
Z1177:Caskin2	UTSW	11	115,697,607 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GTGTCACTCACATGCATATACCC -3'
(R):5'- AGTGCTGGGTGCTAGATTCC -3'

Sequencing Primer
(F):5'- TAGAACACAGGTATCACTCATGTGC -3'
(R):5'- TGCTAGATTCCGTTTGGTCTTC -3'

Posted On

2014-09-17