Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Caskin2'

448370

Institutional Source

Beutler Lab

Gene Symbol

Caskin2

Ensembl Gene

ENSMUSG00000034471

Gene Name

CASK-interacting protein 2

Synonyms

1600028L06Rik

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115690009-115704465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115694299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 400 (D400G)

Ref Sequence

ENSEMBL: ENSMUSP00000041328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000132780] [ENSMUST00000156812]

AlphaFold

Q8VHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041684
AA Change: D400G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: D400G

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: ENSMUST00000093912

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	94	113	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC
low complexity region	460	470	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	920	929	N/A	INTRINSIC
SCOP:d1eula_	979	1282	6e-10	SMART
transmembrane domain	1310	1332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103033

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	94	113	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC
low complexity region	460	470	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	920	929	N/A	INTRINSIC
low complexity region	1096	1109	N/A	INTRINSIC
Pfam:Cation_ATPase_C	1120	1334	5.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125658

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

0.2329

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	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
R2054:Caskin2	UTSW	11	115,697,127 (GRCm39)	unclassified	probably benign
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
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'- GAATGCAAGCCTATTTAGTGCATG -3'
(R):5'- CCAAGCTTCTCCCGGATATCAC -3'

Sequencing Primer
(F):5'- GCCTATTTAGTGCATGGGAAAC -3'
(R):5'- GGATATCACAACCTGCGGC -3'

Posted On

2016-12-15