Incidental Mutation 'R2377:Sla2'
| ID |
248306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sla2
|
| Ensembl Gene |
ENSMUSG00000027636 |
| Gene Name |
Src-like-adaptor 2 |
| Synonyms |
A930009E21Rik, SLAP2, SLAP-2 |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2377 (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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
| Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
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 |
|
R2378: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'- ACAGCCGATATTTAATGCTCACC -3'
Sequencing Primer
(F):5'- CCTCATCCAGTCTGCAGTGG -3'
(R):5'- TAATGCTCACCCATCCTGAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation