Incidental Mutation 'IGL00339:Caskin2'
| ID |
6005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Caskin2
|
| Ensembl Gene |
ENSMUSG00000034471 |
| Gene Name |
CASK-interacting protein 2 |
| Synonyms |
1600028L06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115690009-115704465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115694425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 392
(L392P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000132780]
[ENSMUST00000156812]
|
| AlphaFold |
Q8VHK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041684
AA Change: L392P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: L392P
| 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 |
noncoding transcript
Transcript: ENSMUST00000125658
|
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Caskin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation