Incidental Mutation 'R2378:Sla2'
ID |
248343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sla2
|
Ensembl Gene |
ENSMUSG00000027636 |
Gene Name |
Src-like-adaptor 2 |
Synonyms |
A930009E21Rik, SLAP2, SLAP-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2378 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156716071-156729161 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 156717862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 137
(R137C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029164]
[ENSMUST00000029165]
[ENSMUST00000109561]
|
AlphaFold |
Q8R4L0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029164
AA Change: R137C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029164 Gene: ENSMUSG00000027636 AA Change: R137C
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
SH3
|
34 |
90 |
2.9e-4 |
SMART |
SH2
|
91 |
181 |
4.47e-30 |
SMART |
low complexity region
|
203 |
211 |
N/A |
INTRINSIC |
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029165
|
SMART Domains |
Protein: ENSMUSP00000029165 Gene: ENSMUSG00000027637
Domain | Start | End | E-Value | Type |
Pfam:Rab5ip
|
44 |
123 |
1.4e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109561
AA Change: R137C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105189 Gene: ENSMUSG00000027636 AA Change: R137C
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
SH3
|
34 |
90 |
2.9e-4 |
SMART |
SH2
|
91 |
181 |
4.47e-30 |
SMART |
low complexity region
|
203 |
211 |
N/A |
INTRINSIC |
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152551
|
Meta Mutation Damage Score |
0.3138 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B and T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
Eif3c |
C |
T |
7: 126,151,497 (GRCm39) |
R609H |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
Mtss2 |
T |
C |
8: 111,464,981 (GRCm39) |
F474L |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
R3hcc1l |
T |
A |
19: 42,551,912 (GRCm39) |
I303N |
probably damaging |
Het |
Spsb3 |
A |
G |
17: 25,105,924 (GRCm39) |
|
probably benign |
Het |
Tgfbr2 |
G |
A |
9: 115,959,018 (GRCm39) |
T132I |
probably benign |
Het |
Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
probably damaging |
Het |
|
Other mutations in Sla2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Prospect
|
UTSW |
2 |
156,717,823 (GRCm39) |
nonsense |
probably null |
|
R0109:Sla2
|
UTSW |
2 |
156,725,507 (GRCm39) |
critical splice donor site |
probably null |
|
R0109:Sla2
|
UTSW |
2 |
156,725,507 (GRCm39) |
critical splice donor site |
probably null |
|
R0992:Sla2
|
UTSW |
2 |
156,716,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R2250:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2257:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2379:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2442:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2443:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R2843:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3416:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3417:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3499:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3792:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3793:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R5664:Sla2
|
UTSW |
2 |
156,716,919 (GRCm39) |
missense |
probably benign |
0.04 |
R6784:Sla2
|
UTSW |
2 |
156,725,589 (GRCm39) |
missense |
unknown |
|
R7356:Sla2
|
UTSW |
2 |
156,720,623 (GRCm39) |
critical splice donor site |
probably null |
|
R8797:Sla2
|
UTSW |
2 |
156,717,823 (GRCm39) |
nonsense |
probably null |
|
R8797:Sla2
|
UTSW |
2 |
156,717,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R8898:Sla2
|
UTSW |
2 |
156,717,885 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGACTATCTCCTAGGCCC -3'
(R):5'- CAGCCGATATTTAATGCTCACCC -3'
Sequencing Primer
(F):5'- CCTCATCCAGTCTGCAGTGG -3'
(R):5'- TAATGCTCACCCATCCTGAGG -3'
|
Posted On |
2014-11-11 |