Incidental Mutation 'R3837:Skap2'
| ID |
275691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skap2
|
| Ensembl Gene |
ENSMUSG00000059182 |
| Gene Name |
src family associated phosphoprotein 2 |
| Synonyms |
2610021A10Rik, Saps, RA70, SKAP-HOM, mSKAP55R |
| MMRRC Submission |
040778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
51836145-51989529 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 51886279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078214]
[ENSMUST00000203948]
[ENSMUST00000203948]
[ENSMUST00000204778]
|
| AlphaFold |
Q3UND0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078214
|
| SMART Domains |
Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
117 |
221 |
6.11e-18 |
SMART |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
SH3
|
299 |
356 |
1.71e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203948
|
| SMART Domains |
Protein: ENSMUSP00000145275
Gene: ENSMUSG00000059182
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
49 |
1e-28 |
BLAST |
|
PDB:1U5F|A
|
1 |
74 |
1e-30 |
PDB |
|
SH3
|
83 |
126 |
3e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203948
|
| SMART Domains |
Protein: ENSMUSP00000145275
Gene: ENSMUSG00000059182
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
49 |
1e-28 |
BLAST |
|
PDB:1U5F|A
|
1 |
74 |
1e-30 |
PDB |
|
SH3
|
83 |
126 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204178
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204778
|
| SMART Domains |
Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
117 |
221 |
6.11e-18 |
SMART |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
SH3
|
299 |
356 |
1.71e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.9581 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal. Homozygotes for a gene-trapped allele show impaired B-cell responses and B-cell adhesion, decreased susceptibility to EAE, abnormal dendritic cell physiology, fast extinction of fear memory, and impaired social memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930474N05Rik |
G |
A |
14: 35,817,435 (GRCm39) |
G112S |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,133,584 (GRCm39) |
S351P |
probably benign |
Het |
| Amigo2 |
T |
C |
15: 97,143,196 (GRCm39) |
I409V |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,542 (GRCm39) |
W432R |
probably damaging |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Col28a1 |
C |
T |
6: 8,014,601 (GRCm39) |
V935M |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,803 (GRCm39) |
N1948D |
unknown |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,692,314 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,228,608 (GRCm39) |
T1708A |
probably benign |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm11562 |
A |
G |
11: 99,511,026 (GRCm39) |
I58T |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Lamtor1 |
T |
C |
7: 101,559,315 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
A |
T |
5: 3,900,204 (GRCm39) |
I170L |
possibly damaging |
Het |
| Magi2 |
G |
A |
5: 20,420,466 (GRCm39) |
D301N |
probably benign |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh3 |
C |
A |
13: 92,491,366 (GRCm39) |
G15C |
probably damaging |
Het |
| Myl12b |
C |
A |
17: 71,281,480 (GRCm39) |
E120* |
probably null |
Het |
| Myo3a |
T |
G |
2: 22,455,121 (GRCm39) |
|
probably benign |
Het |
| Nagk |
A |
T |
6: 83,778,139 (GRCm39) |
H245L |
possibly damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
G |
8: 95,237,929 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
G |
A |
1: 23,409,041 (GRCm39) |
T395I |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,961,027 (GRCm39) |
F662Y |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,478 (GRCm39) |
K230E |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,971,142 (GRCm39) |
V581A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,797,938 (GRCm39) |
M215K |
probably damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,860,967 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
G |
A |
8: 45,849,976 (GRCm39) |
L898F |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,701 (GRCm39) |
D284E |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,081,092 (GRCm39) |
T455S |
possibly damaging |
Het |
| Zfp111 |
T |
C |
7: 23,898,891 (GRCm39) |
N241S |
possibly damaging |
Het |
|
| Other mutations in Skap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Skap2
|
APN |
6 |
51,898,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01526:Skap2
|
APN |
6 |
51,884,894 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01543:Skap2
|
APN |
6 |
51,989,375 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01879:Skap2
|
APN |
6 |
51,973,014 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01893:Skap2
|
APN |
6 |
51,851,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02154:Skap2
|
APN |
6 |
51,989,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02406:Skap2
|
APN |
6 |
51,851,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02409:Skap2
|
APN |
6 |
51,884,938 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02937:Skap2
|
APN |
6 |
51,886,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0648:Skap2
|
UTSW |
6 |
51,856,765 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1465:Skap2
|
UTSW |
6 |
51,886,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Skap2
|
UTSW |
6 |
51,886,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2370:Skap2
|
UTSW |
6 |
51,898,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Skap2
|
UTSW |
6 |
51,980,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4939:Skap2
|
UTSW |
6 |
51,899,303 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5555:Skap2
|
UTSW |
6 |
51,836,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Skap2
|
UTSW |
6 |
51,884,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8176:Skap2
|
UTSW |
6 |
51,884,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Skap2
|
UTSW |
6 |
51,884,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9072:Skap2
|
UTSW |
6 |
51,856,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9073:Skap2
|
UTSW |
6 |
51,856,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9143:Skap2
|
UTSW |
6 |
51,885,409 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Skap2
|
UTSW |
6 |
51,898,260 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGATATAACACTTGAACCGATCAG -3'
(R):5'- TCCTTCTGAATAGCACCACAG -3'
Sequencing Primer
(F):5'- CATGTTGGGGAAAGCTGT -3'
(R):5'- AGCTGACTAAAATTTCTCCTGTGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation