Incidental Mutation 'R3036:Caskin2'
| ID |
263373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin2
|
| Ensembl Gene |
ENSMUSG00000034471 |
| Gene Name |
CASK-interacting protein 2 |
| Synonyms |
1600028L06Rik |
| MMRRC Submission |
040552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R3036 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115690009-115704465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115697182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 189
(Y189H)
|
| 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: Y189H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: Y189H
| 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 |
possibly damaging
Transcript: ENSMUST00000132780
AA Change: Y168H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119158
Gene: ENSMUSG00000034471
AA Change: Y168H
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg10 |
A |
G |
13: 91,189,017 (GRCm39) |
S98P |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,561,258 (GRCm39) |
I143V |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,552,323 (GRCm39) |
V90A |
probably benign |
Het |
| Kcnk18 |
T |
A |
19: 59,223,494 (GRCm39) |
V213D |
probably benign |
Het |
| Ly6f |
T |
C |
15: 75,140,636 (GRCm39) |
C20R |
probably damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,750,013 (GRCm39) |
C4399R |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,346,059 (GRCm39) |
T274A |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,064,070 (GRCm39) |
S561P |
possibly damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,225 (GRCm39) |
S155P |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Sumf1 |
G |
A |
6: 108,130,152 (GRCm39) |
A214V |
possibly damaging |
Het |
| Teddm1a |
A |
G |
1: 153,767,656 (GRCm39) |
Y40C |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,167 (GRCm39) |
G496S |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,730,960 (GRCm39) |
|
probably benign |
Het |
| Uty |
G |
A |
Y: 1,099,671 (GRCm39) |
R1112* |
probably null |
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 |
|
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'- ACAGGTATCACTCATGTGCAC -3'
(R):5'- AATTTGGGCGGCTCAAGGTG -3'
Sequencing Primer
(F):5'- GGTATCACTCATGTGCACATACC -3'
(R):5'- GCTAGATTCCGTTTGGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation