Incidental Mutation 'R2370:Skap2'
| ID |
247491 |
| 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 |
040350-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
51836145-51989529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51898310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 140
(R140Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078214]
[ENSMUST00000204778]
|
| AlphaFold |
Q3UND0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078214
AA Change: R133Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: R133Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000204178
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204778
AA Change: R140Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: R140Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
| Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
| Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
| Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
| Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
| Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
| Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
| Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
probably 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 |
|
R3837:Skap2
|
UTSW |
6 |
51,886,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TTACTAGAGTGAAAAGCCATGAGTG -3'
(R):5'- ATACAGGTTAATGCCGGAGC -3'
Sequencing Primer
(F):5'- AAGTGTGTTAAATTTTAGGGCAGTC -3'
(R):5'- CTAAGAGGAAGCTCAGGAGTTGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation