Incidental Mutation 'R2379:Sla2'
ID |
248370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sla2
|
Ensembl Gene |
ENSMUSG00000027636 |
Gene Name |
Src-like-adaptor 2 |
Synonyms |
A930009E21Rik, SLAP2, SLAP-2 |
MMRRC Submission |
040355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2379 (G1)
|
Quality Score |
225 |
Status
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
93% (37/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
T |
C |
11: 53,299,305 (GRCm39) |
|
probably benign |
Het |
Anpep |
T |
C |
7: 79,490,966 (GRCm39) |
T209A |
probably benign |
Het |
Asb16 |
A |
G |
11: 102,163,357 (GRCm39) |
T116A |
probably benign |
Het |
Brd10 |
G |
T |
19: 29,696,275 (GRCm39) |
Q1140K |
probably benign |
Het |
Btc |
A |
T |
5: 91,524,768 (GRCm39) |
|
probably benign |
Het |
C4b |
T |
C |
17: 34,954,717 (GRCm39) |
D860G |
possibly damaging |
Het |
Cd177 |
G |
A |
7: 24,457,468 (GRCm39) |
T191I |
possibly damaging |
Het |
Cngb1 |
A |
G |
8: 95,986,758 (GRCm39) |
L378P |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,490,122 (GRCm39) |
F1697S |
probably damaging |
Het |
Dop1a |
G |
A |
9: 86,403,138 (GRCm39) |
S1446N |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,688,443 (GRCm39) |
K154* |
probably null |
Het |
Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
Ifi204 |
T |
A |
1: 173,583,559 (GRCm39) |
R220* |
probably null |
Het |
Limk1 |
A |
G |
5: 134,708,335 (GRCm39) |
|
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,496,929 (GRCm39) |
S8T |
possibly damaging |
Het |
Mpp7 |
T |
A |
18: 7,403,345 (GRCm39) |
R322* |
probably null |
Het |
Mycbp2 |
T |
C |
14: 103,412,386 (GRCm39) |
N2529S |
probably benign |
Het |
Npr3 |
A |
G |
15: 11,883,449 (GRCm39) |
F327L |
probably damaging |
Het |
Or12j3 |
A |
T |
7: 139,952,748 (GRCm39) |
Y258* |
probably null |
Het |
Or14c41 |
T |
G |
7: 86,235,400 (GRCm39) |
F306V |
probably benign |
Het |
Or14c46 |
T |
C |
7: 85,918,857 (GRCm39) |
T47A |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,052 (GRCm39) |
H107L |
probably benign |
Het |
Or5p1 |
T |
C |
7: 107,916,499 (GRCm39) |
S133P |
probably benign |
Het |
Or6c217 |
A |
T |
10: 129,737,781 (GRCm39) |
V266E |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,211,963 (GRCm39) |
S157P |
possibly damaging |
Het |
Pld2 |
A |
T |
11: 70,445,140 (GRCm39) |
Y580F |
probably benign |
Het |
Scart2 |
A |
T |
7: 139,879,682 (GRCm39) |
D990V |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,066,707 (GRCm39) |
E162G |
probably damaging |
Het |
Spen |
T |
C |
4: 141,244,238 (GRCm39) |
T266A |
unknown |
Het |
Tnks1bp1 |
A |
G |
2: 84,894,182 (GRCm39) |
S1370G |
probably benign |
Het |
Usp28 |
A |
G |
9: 48,914,395 (GRCm39) |
R99G |
probably null |
Het |
Vmn2r13 |
T |
G |
5: 109,319,644 (GRCm39) |
E445D |
probably benign |
Het |
Vmn2r27 |
A |
G |
6: 124,201,342 (GRCm39) |
I205T |
possibly 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 |
R2378: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'- TCCAGCAGGTCAAGCCTCTAAG -3'
(R):5'- TCCTGAGGACCACAGAATCC -3'
Sequencing Primer
(F):5'- GGGCACAACTGACTATCTCCTAGG -3'
(R):5'- TGAGGACCACAGAATCCTATTAC -3'
|
Posted On |
2014-11-11 |