Mutagenetix > Incidental Mutation

Incidental Mutation 'R9354:Caskin2'

708282

Institutional Source

Beutler Lab

Gene Symbol

Caskin2

Ensembl Gene

ENSMUSG00000034471

Gene Name

CASK-interacting protein 2

Synonyms

1600028L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115690009-115704465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115693468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 528 (T528M)

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: T528M

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

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: T528M

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,873 (GRCm39)	Q181R	unknown	Het
Acsl1	T	G	8: 46,966,753 (GRCm39)	C242G	probably benign	Het
Agap2	A	C	10: 126,923,104 (GRCm39)	N646T	unknown	Het
Ankrd44	A	T	1: 54,687,438 (GRCm39)	*994R	probably null	Het
Apol7c	C	T	15: 77,410,112 (GRCm39)	R278H	possibly damaging	Het
Birc6	A	G	17: 74,921,401 (GRCm39)	E2166G	probably benign	Het
Ccdc30	G	T	4: 119,230,850 (GRCm39)	P15Q	possibly damaging	Het
Cemip2	A	G	19: 21,779,389 (GRCm39)	S400G	probably benign	Het
Cenpf	G	A	1: 189,379,114 (GRCm39)	T45I		Het
Cep68	T	C	11: 20,188,569 (GRCm39)	E612G	probably damaging	Het
Chpf2	T	C	5: 24,796,392 (GRCm39)	L446P	probably damaging	Het
Ctsl	A	T	13: 64,516,850 (GRCm39)	Y40N	probably damaging	Het
Dis3l	T	C	9: 64,221,922 (GRCm39)	N496S	probably benign	Het
Espnl	A	T	1: 91,272,323 (GRCm39)	D561V	probably benign	Het
Flnb	T	A	14: 7,818,411 (GRCm38)	L87Q	probably benign	Het
Gbp9	T	A	5: 105,232,825 (GRCm39)	I276F	possibly damaging	Het
Gid4	G	T	11: 60,308,618 (GRCm39)	R46L	probably benign	Het
Gper1	G	A	5: 139,412,029 (GRCm39)	D125N	possibly damaging	Het
Gpr146	A	G	5: 139,378,366 (GRCm39)	N56S	probably benign	Het
Grhpr	G	T	4: 44,981,465 (GRCm39)	R5L	probably benign	Het
Gstm6	A	T	3: 107,850,018 (GRCm39)	N59K	probably damaging	Het
Hdac7	A	T	15: 97,694,769 (GRCm39)	F802L	probably damaging	Het
Igfbpl1	A	T	4: 45,816,348 (GRCm39)	V159D	probably damaging	Het
Itga8	T	C	2: 12,237,668 (GRCm39)	S351G	possibly damaging	Het
Itgad	C	A	7: 127,785,146 (GRCm39)	H354Q	probably damaging	Het
Jmjd1c	T	C	10: 67,059,875 (GRCm39)	S641P	probably damaging	Het
Klhl33	T	C	14: 51,130,385 (GRCm39)	T110A	probably benign	Het
Lcorl	T	A	5: 45,890,968 (GRCm39)	K545*	probably null	Het
Lilra6	A	G	7: 3,914,628 (GRCm39)	S546P	probably damaging	Het
Ly6c1	T	A	15: 74,916,471 (GRCm39)	I124F	probably benign	Het
Map4	A	G	9: 109,897,847 (GRCm39)	T858A	probably benign	Het
Marchf5	G	T	19: 37,185,264 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,307,157 (GRCm39)	K769E		Het
Myh6	T	A	14: 55,200,992 (GRCm39)	I157F	probably damaging	Het
Naip1	A	G	13: 100,563,994 (GRCm39)	V389A	probably benign	Het
Or52b3	G	A	7: 102,204,397 (GRCm39)	R302H	possibly damaging	Het
Pcdhgc4	A	G	18: 37,949,640 (GRCm39)	H352R	probably benign	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pick1	T	C	15: 79,123,848 (GRCm39)	V73A	probably damaging	Het
Ppwd1	C	T	13: 104,342,080 (GRCm39)	V625I	probably benign	Het
Prss59	A	G	6: 40,905,473 (GRCm39)	V61A	probably damaging	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapb	A	G	2: 158,279,313 (GRCm39)	N445S	possibly damaging	Het
Rapgef6	G	T	11: 54,510,749 (GRCm39)	R222L	possibly damaging	Het
Rorc	A	T	3: 94,280,170 (GRCm39)		probably benign	Het
Rps6ka1	A	C	4: 133,594,432 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,725,757 (GRCm39)	Y1164C	probably benign	Het
Sema5a	T	A	15: 32,562,902 (GRCm39)	Y304*	probably null	Het
Slc26a4	A	T	12: 31,585,255 (GRCm39)	V513D	possibly damaging	Het
Slf2	T	A	19: 44,936,471 (GRCm39)	D705E	probably damaging	Het
Spag17	A	G	3: 99,934,905 (GRCm39)	T704A	probably benign	Het
Tex15	C	G	8: 34,063,344 (GRCm39)	Q925E	possibly damaging	Het
Trim38	A	T	13: 23,969,875 (GRCm39)	T145S	probably benign	Het
Trpm3	G	A	19: 22,425,696 (GRCm39)	C17Y	probably benign	Het
Usp42	A	G	5: 143,701,027 (GRCm39)	Y999H	probably benign	Het
Vat1	A	C	11: 101,351,441 (GRCm39)	M300R	probably benign	Het
Vmn1r85	T	A	7: 12,818,725 (GRCm39)	I140F	probably damaging	Het
Vmn2r57	T	C	7: 41,049,663 (GRCm39)	I695M	probably benign	Het
Wnk1	C	T	6: 119,942,660 (GRCm39)	R789Q	unknown	Het
Zswim5	G	A	4: 116,844,232 (GRCm39)	G1090D	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
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'- CACCATTAAACCAGGGTCGC -3'
(R):5'- AGGCCATTCATAACTGGCTAAG -3'

Sequencing Primer
(F):5'- GTCGCCCCATGCCAGAAAG -3'
(R):5'- CATAACTGGCTAAGTGAGTTCCAGC -3'

Posted On

2022-04-18