Incidental Mutation 'R0741:Caskin2'
| ID |
70693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin2
|
| Ensembl Gene |
ENSMUSG00000034471 |
| Gene Name |
CASK-interacting protein 2 |
| Synonyms |
1600028L06Rik |
| MMRRC Submission |
038922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R0741 (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 115695626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 245
(V245A)
|
| 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: V245A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: V245A
| 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 |
possibly damaging
Transcript: ENSMUST00000132780
AA Change: V224A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119158
Gene: ENSMUSG00000034471
AA Change: V224A
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
| Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
| Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
| Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
| Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
| Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
| Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
| Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
| Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GAACCTTCAAGATCCCTGAAGCCTC -3'
(R):5'- AGGACTTATGGCTGGAGTGCAGAC -3'
Sequencing Primer
(F):5'- TGTCAGTCATGGGACCTGAAC -3'
(R):5'- CAGACCTGTCTGGCTTAGATGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation