Incidental Mutation 'R3124:Caskin2'
ID |
264205 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Caskin2
|
Ensembl Gene |
ENSMUSG00000034471 |
Gene Name |
CASK-interacting protein 2 |
Synonyms |
1600028L06Rik |
MMRRC Submission |
040597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R3124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
115690009-115704465 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115695623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 246
(D246G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000132780]
[ENSMUST00000156812]
|
AlphaFold |
Q8VHK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041684
AA Change: D246G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041328 Gene: ENSMUSG00000034471 AA Change: D246G
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 |
noncoding transcript
Transcript: ENSMUST00000125658
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132780
AA Change: D225G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119158 Gene: ENSMUSG00000034471 AA Change: D225G
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 |
0.2113 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly 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 |
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'- ATGAGCAGATGTCAGTCATGGG -3'
(R):5'- TAAGGACTTATGGCTGGAGTGC -3'
Sequencing Primer
(F):5'- TGTCAGTCATGGGACCTGAAC -3'
(R):5'- ACTTATGGCTGGAGTGCAGACC -3'
|
Posted On |
2015-02-05 |