Incidental Mutation 'R0766:Sntb2'
ID 69502
Institutional Source Beutler Lab
Gene Symbol Sntb2
Ensembl Gene ENSMUSG00000041308
Gene Name syntrophin, basic 2
Synonyms Snt2
MMRRC Submission 038946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R0766 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 107662372-107740864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107728209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 386 (T386A)
Ref Sequence ENSEMBL: ENSMUSP00000037324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047425] [ENSMUST00000212524]
AlphaFold Q61235
Predicted Effect probably damaging
Transcript: ENSMUST00000047425
AA Change: T386A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037324
Gene: ENSMUSG00000041308
AA Change: T386A

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
low complexity region 62 92 N/A INTRINSIC
low complexity region 93 99 N/A INTRINSIC
PDZ 104 178 1.48e-17 SMART
PH 144 282 3.52e0 SMART
PH 306 419 4.07e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000212524
AA Change: T386A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1567 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.4%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have no overt phenotype. They are fertile and motile with no signs of muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A T 4: 103,127,994 (GRCm39) F44I probably damaging Het
A2m T C 6: 121,653,849 (GRCm39) probably benign Het
Card14 T C 11: 119,215,002 (GRCm39) S241P probably damaging Het
Cdh15 G A 8: 123,588,188 (GRCm39) probably benign Het
Dnah5 A C 15: 28,448,633 (GRCm39) K4232T probably null Het
Eml6 A G 11: 29,781,219 (GRCm39) probably benign Het
Esd T C 14: 74,979,561 (GRCm39) S122P probably damaging Het
Frem3 G A 8: 81,341,951 (GRCm39) V1415I probably benign Het
Fry T C 5: 150,326,897 (GRCm39) probably benign Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Herc1 C T 9: 66,412,122 (GRCm39) P4781S probably damaging Het
Ift70a2 A T 2: 75,806,676 (GRCm39) V612D probably benign Het
Iqch G A 9: 63,389,965 (GRCm39) S738L probably benign Het
Itih2 T A 2: 10,102,735 (GRCm39) T800S probably benign Het
Itpr1 A G 6: 108,387,861 (GRCm39) E1533G probably damaging Het
Klrg1 T C 6: 122,256,622 (GRCm39) M55V probably benign Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Mkx T A 18: 6,937,192 (GRCm39) D284V probably benign Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Otos A C 1: 92,573,073 (GRCm39) L14R probably damaging Het
Plch2 C T 4: 155,074,256 (GRCm39) V765M probably damaging Het
Ppp4r3b A T 11: 29,123,358 (GRCm39) Q18L probably benign Het
Psme4 T A 11: 30,757,687 (GRCm39) probably null Het
Pwp1 G A 10: 85,715,173 (GRCm39) D220N probably damaging Het
Rel G A 11: 23,707,010 (GRCm39) T64I probably damaging Het
Snai2 T A 16: 14,526,111 (GRCm39) M254K possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex22 A G 12: 113,052,143 (GRCm39) N67S possibly damaging Het
Trank1 T G 9: 111,176,537 (GRCm39) S270A probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn1r167 A G 7: 23,204,548 (GRCm39) F156S probably benign Het
Vrk2 G A 11: 26,485,522 (GRCm39) probably benign Het
Wdfy4 T C 14: 32,862,569 (GRCm39) E601G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp638 A G 6: 83,906,023 (GRCm39) N63D probably damaging Het
Other mutations in Sntb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Sntb2 UTSW 8 107,728,269 (GRCm39) missense probably damaging 0.98
BB017:Sntb2 UTSW 8 107,728,269 (GRCm39) missense probably damaging 0.98
R0226:Sntb2 UTSW 8 107,728,215 (GRCm39) missense probably damaging 1.00
R0345:Sntb2 UTSW 8 107,728,170 (GRCm39) missense probably damaging 1.00
R1027:Sntb2 UTSW 8 107,718,203 (GRCm39) missense probably benign 0.28
R1312:Sntb2 UTSW 8 107,728,209 (GRCm39) missense probably damaging 1.00
R1514:Sntb2 UTSW 8 107,718,164 (GRCm39) missense probably damaging 1.00
R1942:Sntb2 UTSW 8 107,737,984 (GRCm39) missense probably damaging 0.98
R2937:Sntb2 UTSW 8 107,662,729 (GRCm39) missense probably benign 0.06
R3968:Sntb2 UTSW 8 107,723,772 (GRCm39) nonsense probably null
R4455:Sntb2 UTSW 8 107,718,239 (GRCm39) critical splice donor site probably null
R4458:Sntb2 UTSW 8 107,718,239 (GRCm39) critical splice donor site probably null
R4526:Sntb2 UTSW 8 107,736,595 (GRCm39) missense probably damaging 0.99
R6123:Sntb2 UTSW 8 107,707,857 (GRCm39) missense probably damaging 1.00
R7378:Sntb2 UTSW 8 107,707,944 (GRCm39) missense probably damaging 1.00
R7458:Sntb2 UTSW 8 107,662,930 (GRCm39) missense possibly damaging 0.83
R7877:Sntb2 UTSW 8 107,738,164 (GRCm39) missense probably benign
R7930:Sntb2 UTSW 8 107,728,269 (GRCm39) missense probably damaging 0.98
R8403:Sntb2 UTSW 8 107,728,166 (GRCm39) nonsense probably null
R8734:Sntb2 UTSW 8 107,728,320 (GRCm39) missense probably benign 0.29
R8901:Sntb2 UTSW 8 107,737,975 (GRCm39) missense possibly damaging 0.90
R8964:Sntb2 UTSW 8 107,707,808 (GRCm39) missense possibly damaging 0.95
R9135:Sntb2 UTSW 8 107,662,831 (GRCm39) missense possibly damaging 0.83
R9411:Sntb2 UTSW 8 107,737,931 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2013-09-30