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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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