Incidental Mutation 'R6618:Caskin2'
| ID |
524226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin2
|
| Ensembl Gene |
ENSMUSG00000034471 |
| Gene Name |
CASK-interacting protein 2 |
| Synonyms |
1600028L06Rik |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
101.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115690009-115704465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115690855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1188
(M1188I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000132780]
|
| AlphaFold |
Q8VHK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041684
AA Change: M1188I
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: M1188I
| 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 |
noncoding transcript
Transcript: ENSMUST00000175989
|
| Meta Mutation Damage Score |
0.4204 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| 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 |
|
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 |
|
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'- TCTGCTACGGAAGGATTCTCC -3'
(R):5'- AGGTTTTAGAGTGGCCTACAGAG -3'
Sequencing Primer
(F):5'- TACGGAAGGATTCTCCAGCCC -3'
(R):5'- CTACAGAGATCACTGGTGACTGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation