Incidental Mutation 'R2893:Caskin2'
ID 260677
Institutional Source Beutler Lab
Gene Symbol Caskin2
Ensembl Gene ENSMUSG00000034471
Gene Name CASK-interacting protein 2
Synonyms 1600028L06Rik
MMRRC Submission 040481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2893 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115690009-115704465 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115692103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 894 (G894E)
Ref Sequence ENSEMBL: ENSMUSP00000041328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000132780]
AlphaFold Q8VHK1
Predicted Effect probably benign
Transcript: ENSMUST00000041684
AA Change: G894E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: G894E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abl1 T G 2: 31,687,624 (GRCm39) S521R probably benign Het
Acox3 A G 5: 35,757,192 (GRCm39) I344V probably benign Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Atoh8 A T 6: 72,211,856 (GRCm39) F98Y probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cdk5rap2 T C 4: 70,208,110 (GRCm39) K779E probably benign Het
Csmd2 T A 4: 128,432,786 (GRCm39) probably null Het
Cubn T C 2: 13,362,950 (GRCm39) D1687G possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Faap100 T C 11: 120,265,451 (GRCm39) D475G probably damaging Het
Fhip2a C T 19: 57,372,601 (GRCm39) P617L probably benign Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Ikbke G A 1: 131,197,961 (GRCm39) P382S probably damaging Het
Il4i1 A G 7: 44,487,414 (GRCm39) I130V probably damaging Het
Islr2 A T 9: 58,105,149 (GRCm39) S704T probably damaging Het
Itga10 A G 3: 96,562,416 (GRCm39) N733D probably benign Het
Itih2 C T 2: 10,107,008 (GRCm39) G662D possibly damaging Het
Kansl1l T C 1: 66,840,493 (GRCm39) Q269R probably damaging Het
Kcnj3 A T 2: 55,337,027 (GRCm39) I298F probably damaging Het
Kdr A G 5: 76,107,496 (GRCm39) F1016L probably damaging Het
Miga2 A T 2: 30,268,306 (GRCm39) probably null Het
Or51ai2 A T 7: 103,587,389 (GRCm39) R267S probably damaging Het
Per2 C A 1: 91,373,325 (GRCm39) Q154H probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Psma5-ps T C 10: 85,149,848 (GRCm39) noncoding transcript Het
Rad18 G A 6: 112,652,734 (GRCm39) Q288* probably null Het
Rapsn A T 2: 90,867,169 (GRCm39) D157V probably damaging Het
Slc2a8 A T 2: 32,864,966 (GRCm39) W394R probably damaging Het
Srcap T C 7: 127,138,237 (GRCm39) S1136P probably damaging Het
Tenm4 T A 7: 96,544,197 (GRCm39) V2108D probably damaging Het
Trappc10 C T 10: 78,029,235 (GRCm39) V1101M probably benign Het
Ttbk2 C A 2: 120,576,091 (GRCm39) probably null Het
Usp8 A T 2: 126,600,075 (GRCm39) Q998L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r80 T C 10: 78,984,699 (GRCm39) F17S possibly damaging Het
Other mutations in Caskin2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CGCTGCTTGATAGTCAGGTTC -3'
(R):5'- TTATGCCACGCTTACTCGG -3'

Sequencing Primer
(F):5'- GCTTGATAGTCAGGTTCCCCTC -3'
(R):5'- ACGCTTACTCGGAGACCAG -3'
Posted On 2015-01-23