Incidental Mutation 'R6617:Stap2'
| ID |
524180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stap2
|
| Ensembl Gene |
ENSMUSG00000038781 |
| Gene Name |
signal transducing adaptor family member 2 |
| Synonyms |
STAP-2 |
| MMRRC Submission |
044740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56304077-56312584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56306746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 276
(S276P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
| AlphaFold |
Q8R0L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011733
|
| SMART Domains |
Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
| Domain | Start | End | E-Value | Type |
|---|
|
BBC
|
4 |
130 |
7.61e-9 |
SMART |
|
FN3
|
165 |
255 |
2.96e-4 |
SMART |
|
Pfam:SPRY
|
355 |
473 |
6.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043785
AA Change: S276P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: S276P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
20 |
120 |
1.22e-3 |
SMART |
|
SH2
|
150 |
239 |
2.58e-3 |
SMART |
|
low complexity region
|
278 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
| Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,254,156 (GRCm39) |
N540S |
probably damaging |
Het |
| Dll4 |
A |
G |
2: 119,158,412 (GRCm39) |
T134A |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
T |
14: 72,669,215 (GRCm39) |
L2649H |
probably damaging |
Het |
| Gprc5c |
A |
G |
11: 114,754,931 (GRCm39) |
I203V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
| Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
| Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,781 (GRCm39) |
E247G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
| Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
| Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
probably null |
Het |
|
| Other mutations in Stap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01578:Stap2
|
APN |
17 |
56,304,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02087:Stap2
|
APN |
17 |
56,312,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Stap2
|
APN |
17 |
56,306,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03101:Stap2
|
APN |
17 |
56,309,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Stap2
|
UTSW |
17 |
56,306,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Stap2
|
UTSW |
17 |
56,307,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3405:Stap2
|
UTSW |
17 |
56,304,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3406:Stap2
|
UTSW |
17 |
56,304,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3929:Stap2
|
UTSW |
17 |
56,310,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Stap2
|
UTSW |
17 |
56,304,827 (GRCm39) |
nonsense |
probably null |
|
|
R4543:Stap2
|
UTSW |
17 |
56,304,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4934:Stap2
|
UTSW |
17 |
56,304,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5748:Stap2
|
UTSW |
17 |
56,307,475 (GRCm39) |
splice site |
probably null |
|
|
R6228:Stap2
|
UTSW |
17 |
56,306,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Stap2
|
UTSW |
17 |
56,309,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7665:Stap2
|
UTSW |
17 |
56,304,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7879:Stap2
|
UTSW |
17 |
56,309,023 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8008:Stap2
|
UTSW |
17 |
56,304,790 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8765:Stap2
|
UTSW |
17 |
56,310,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Stap2
|
UTSW |
17 |
56,304,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8932:Stap2
|
UTSW |
17 |
56,304,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9444:Stap2
|
UTSW |
17 |
56,307,907 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9764:Stap2
|
UTSW |
17 |
56,309,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Stap2
|
UTSW |
17 |
56,306,748 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAGCACATGAGAGCCTG -3'
(R):5'- TTGGATGAGGACTATGAGAAGGTTC -3'
Sequencing Primer
(F):5'- TGATCCTTACACTTAGGAGGCAG -3'
(R):5'- GGACTATGAGAAGGTTCTAGGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation