Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Caskin2'

713896

Institutional Source

Beutler Lab

Gene Symbol

Caskin2

Ensembl Gene

ENSMUSG00000034471

Gene Name

CASK-interacting protein 2

Synonyms

1600028L06Rik

Accession Numbers

Essential gene?

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

Stock #

R9445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115690009-115704465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115694576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 342 (V342I)

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: V342I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: V342I

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,818,174 (GRCm39)	H23Q	possibly damaging	Het
Abca14	T	C	7: 119,877,691 (GRCm39)	S1069P	probably benign	Het
Abo	A	G	2: 26,733,720 (GRCm39)	W160R	probably damaging	Het
Adgrb1	A	T	15: 74,435,807 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,745,978 (GRCm39)	Q1624R		Het
Amy2a1	T	A	3: 113,325,324 (GRCm39)	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,974,619 (GRCm39)	V2232I	probably benign	Het
Brsk2	T	A	7: 141,538,149 (GRCm39)	H98Q	probably damaging	Het
Ccdc13	T	C	9: 121,627,156 (GRCm39)	N707S	probably benign	Het
Cdv3	T	C	9: 103,241,240 (GRCm39)	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558 (GRCm39)	E454K	probably benign	Het
Cpq	A	T	15: 33,213,391 (GRCm39)	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,151,838 (GRCm39)	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,146,284 (GRCm39)	D710G	probably damaging	Het
Drd4	T	C	7: 140,872,162 (GRCm39)	V71A	probably damaging	Het
Eef2k	T	C	7: 120,457,694 (GRCm39)	C18R	probably benign	Het
Ercc4	C	A	16: 12,945,474 (GRCm39)	D386E	probably benign	Het
F2rl2	A	C	13: 95,837,622 (GRCm39)	L222F	probably benign	Het
Fkbp4	T	C	6: 128,413,580 (GRCm39)	D68G	probably damaging	Het
Fsip2	A	T	2: 82,806,132 (GRCm39)	D817V	probably damaging	Het
Gm19410	G	A	8: 36,239,652 (GRCm39)	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,504,502 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,813,775 (GRCm39)	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,478,757 (GRCm39)	V525M	probably damaging	Het
Hook1	A	G	4: 95,901,499 (GRCm39)	N486D	probably benign	Het
Hook1	A	G	4: 95,903,049 (GRCm39)	S513G	probably benign	Het
Hoxd9	A	T	2: 74,528,415 (GRCm39)	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,619,051 (GRCm39)	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,123,572 (GRCm39)	S172A	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,822,858 (GRCm39)	T88S	possibly damaging	Het
Il16	T	A	7: 83,337,380 (GRCm39)	K112*	probably null	Het
Irag1	A	T	7: 110,545,161 (GRCm39)	I45N	possibly damaging	Het
Kalrn	T	A	16: 33,805,600 (GRCm39)	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,767,959 (GRCm39)	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,150,260 (GRCm39)	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552 (GRCm38)	L18H	probably damaging	Het
Med13l	T	A	5: 118,862,214 (GRCm39)	S386T	probably benign	Het
Mettl6	C	T	14: 31,209,527 (GRCm39)		probably null	Het
Mocs2	C	T	13: 114,961,879 (GRCm39)	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,531,346 (GRCm39)	T74A	probably benign	Het
Myh2	T	C	11: 67,069,754 (GRCm39)	F367L	probably damaging	Het
N4bp1	G	A	8: 87,587,238 (GRCm39)	Q567*	probably null	Het
Naf1	A	G	8: 67,336,097 (GRCm39)	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,250,063 (GRCm39)	N1080K	probably benign	Het
Nell1	C	A	7: 49,632,474 (GRCm39)	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,522,448 (GRCm39)	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,499,737 (GRCm39)	C709*	probably null	Het
Or13p4	T	G	4: 118,547,416 (GRCm39)	T78P	probably damaging	Het
Or2ag17	A	G	7: 106,389,464 (GRCm39)	V248A	probably damaging	Het
Or2n1	A	C	17: 38,486,694 (GRCm39)	T240P	probably damaging	Het
Or2t26	C	G	11: 49,039,879 (GRCm39)	A265G	probably benign	Het
Or8g19	T	A	9: 39,055,766 (GRCm39)	Y123*	probably null	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbx3	A	G	2: 34,114,555 (GRCm39)		probably benign	Het
Pcnx1	T	C	12: 81,964,981 (GRCm39)	S383P	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pnliprp1	A	G	19: 58,720,628 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,343,795 (GRCm39)	L365P	probably damaging	Het
Prl8a9	C	T	13: 27,748,498 (GRCm39)		probably null	Het
Qdpr	T	C	5: 45,596,669 (GRCm39)	N165S	probably benign	Het
Rabl2	A	G	15: 89,468,148 (GRCm39)	F158L	probably damaging	Het
Rrp7a	G	T	15: 83,004,084 (GRCm39)	C117*	probably null	Het
Ryr2	T	C	13: 11,787,463 (GRCm39)	Y970C	probably damaging	Het
Sf3b3	T	C	8: 111,552,774 (GRCm39)	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,704,198 (GRCm39)	E708G	probably damaging	Het
Skor2	T	A	18: 76,948,811 (GRCm39)	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,138,815 (GRCm39)	C231Y	probably damaging	Het
Smgc	A	T	15: 91,729,665 (GRCm39)	E206D	probably benign	Het
Tanc2	T	C	11: 105,758,290 (GRCm39)	S684P	possibly damaging	Het
Tep1	T	C	14: 51,082,967 (GRCm39)	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,038,283 (GRCm39)	S214G	probably benign	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Use1	T	C	8: 71,821,200 (GRCm39)	S156P	probably benign	Het
Znrf1	G	A	8: 112,335,954 (GRCm39)	V152M	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
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
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'- ATTCCTGTCACCTGCTGCAG -3'
(R):5'- TGTTACTACAGAGACAGCCACG -3'

Sequencing Primer
(F):5'- AGCTGACTGGCAACTTGC -3'
(R):5'- GGCCACTTGCTCAATACAAAGAGTG -3'

Posted On

2022-06-15