Incidental Mutation 'R3878:Sla2'
ID 276935
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 # R3878 (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: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik C T 2: 130,247,560 (GRCm39) T32M probably benign Het
A2ml1 T C 6: 128,531,324 (GRCm39) S915G probably benign Het
Ablim1 T C 19: 57,025,642 (GRCm39) probably null Het
Atosb T G 4: 43,035,867 (GRCm39) H288P probably damaging Het
Cadm2 C T 16: 66,612,329 (GRCm39) E78K probably damaging Het
Ceacam5 C T 7: 17,484,506 (GRCm39) P416L probably damaging Het
Chsy3 T C 18: 59,542,845 (GRCm39) F661S probably damaging Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Ctif A G 18: 75,653,048 (GRCm39) I403T probably damaging Het
Dnaaf9 T C 2: 130,620,423 (GRCm39) R237G possibly damaging Het
Eprs1 T A 1: 185,148,150 (GRCm39) probably null Het
Frs2 A C 10: 116,914,815 (GRCm39) S35A probably benign Het
Gpr155 C T 2: 73,198,736 (GRCm39) W394* probably null Het
Ift140 G A 17: 25,247,918 (GRCm39) V259M probably benign Het
Igkv9-124 A T 6: 67,919,191 (GRCm39) S74T probably benign Het
Krt14 C T 11: 100,097,915 (GRCm39) V123M possibly damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nebl T C 2: 17,398,063 (GRCm39) T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 (GRCm38) noncoding transcript Het
Nsa2 C G 13: 97,268,542 (GRCm39) G175A probably benign Het
Or8k40 T C 2: 86,584,972 (GRCm39) T37A probably benign Het
Pax1 A T 2: 147,204,228 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,262 (GRCm39) E1291G probably benign Het
Relb G A 7: 19,351,769 (GRCm39) H115Y probably damaging Het
Rnase10 A G 14: 51,246,889 (GRCm39) E52G probably damaging Het
Slc14a2 C T 18: 78,202,289 (GRCm39) V614I probably benign Het
Slc20a2 T C 8: 23,058,399 (GRCm39) L645P possibly damaging Het
Smoc2 A G 17: 14,545,879 (GRCm39) D56G probably damaging Het
Szt2 A G 4: 118,247,782 (GRCm39) S789P probably damaging Het
Tenm2 A G 11: 36,030,401 (GRCm39) probably null Het
Tm9sf3 A G 19: 41,235,152 (GRCm39) V169A probably damaging Het
Trbv13-1 C T 6: 41,093,322 (GRCm39) T86I probably benign Het
Trim24 A G 6: 37,941,708 (GRCm39) D886G probably benign Het
Trim33 A G 3: 103,259,321 (GRCm39) I1003M probably damaging Het
Trim37 T C 11: 87,096,828 (GRCm39) V777A probably benign Het
Ttc7 A C 17: 87,678,166 (GRCm39) probably benign Het
Ttn T C 2: 76,596,364 (GRCm39) D11856G possibly damaging Het
Vmn1r226 A T 17: 20,908,260 (GRCm39) D164V possibly damaging Het
Vmn1r34 G A 6: 66,614,552 (GRCm39) T62I possibly damaging Het
Wapl T C 14: 34,414,104 (GRCm39) L322P probably damaging Het
Zfp62 A G 11: 49,105,960 (GRCm39) D17G 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
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
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'- CCTCTAAGGGCACAACTGACTATC -3'
(R):5'- TTAATGCTCACCCATCCTGAGG -3'

Sequencing Primer
(F):5'- GGGCACAACTGACTATCTCCTAGG -3'
(R):5'- TGAGGACCACAGAATCCTATTAC -3'
Posted On 2015-04-06