Incidental Mutation 'R0614:Sntg2'
ID 54965
Institutional Source Beutler Lab
Gene Symbol Sntg2
Ensembl Gene ENSMUSG00000020672
Gene Name syntrophin, gamma 2
Synonyms 2210008K22Rik
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R0614 (G1)
Quality Score 190
Status Validated
Chromosome 12
Chromosomal Location 30224481-30423374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30307977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 236 (T236I)
Ref Sequence ENSEMBL: ENSMUSP00000021004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]
AlphaFold Q925E0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021004
AA Change: T236I

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: T236I

DomainStartEndE-ValueType
PDZ 82 156 1.83e-17 SMART
low complexity region 159 183 N/A INTRINSIC
PH 297 423 7.66e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133324
SMART Domains Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
Blast:PH 13 70 9e-24 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000142046
SMART Domains Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
Blast:PH 13 89 1e-23 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000149710
SMART Domains Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672

DomainStartEndE-ValueType
PDZ 82 156 1.83e-17 SMART
low complexity region 159 183 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V probably benign Het
Other mutations in Sntg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Sntg2 APN 12 30,326,720 (GRCm39) missense probably benign 0.08
IGL00914:Sntg2 APN 12 30,307,956 (GRCm39) intron probably benign
IGL00950:Sntg2 APN 12 30,362,680 (GRCm39) splice site probably benign
IGL01106:Sntg2 APN 12 30,307,987 (GRCm39) nonsense probably null
IGL01732:Sntg2 APN 12 30,362,648 (GRCm39) missense probably damaging 0.99
IGL01987:Sntg2 APN 12 30,362,569 (GRCm39) missense probably damaging 1.00
IGL02138:Sntg2 APN 12 30,357,230 (GRCm39) critical splice acceptor site probably null
IGL02325:Sntg2 APN 12 30,245,542 (GRCm39) missense probably benign 0.08
IGL02619:Sntg2 APN 12 30,317,025 (GRCm39) splice site probably null
IGL02797:Sntg2 APN 12 30,276,891 (GRCm39) missense possibly damaging 0.93
IGL03176:Sntg2 APN 12 30,317,022 (GRCm39) splice site probably benign
PIT4445001:Sntg2 UTSW 12 30,362,571 (GRCm39) missense probably damaging 1.00
R0126:Sntg2 UTSW 12 30,251,260 (GRCm39) splice site probably benign
R0309:Sntg2 UTSW 12 30,276,772 (GRCm39) missense probably benign 0.03
R1267:Sntg2 UTSW 12 30,295,127 (GRCm39) missense probably benign 0.42
R1546:Sntg2 UTSW 12 30,338,295 (GRCm39) missense probably damaging 1.00
R1696:Sntg2 UTSW 12 30,317,062 (GRCm39) missense probably damaging 1.00
R1708:Sntg2 UTSW 12 30,423,179 (GRCm39) missense possibly damaging 0.81
R1867:Sntg2 UTSW 12 30,286,650 (GRCm39) missense probably benign
R2256:Sntg2 UTSW 12 30,286,687 (GRCm39) nonsense probably null
R2895:Sntg2 UTSW 12 30,276,845 (GRCm39) missense probably benign 0.00
R3401:Sntg2 UTSW 12 30,338,171 (GRCm39) splice site probably benign
R3522:Sntg2 UTSW 12 30,362,566 (GRCm39) missense probably damaging 0.99
R4771:Sntg2 UTSW 12 30,326,658 (GRCm39) splice site probably null
R4814:Sntg2 UTSW 12 30,423,267 (GRCm39) unclassified probably benign
R5554:Sntg2 UTSW 12 30,308,040 (GRCm39) missense probably benign 0.08
R6056:Sntg2 UTSW 12 30,362,560 (GRCm39) missense probably benign 0.06
R6328:Sntg2 UTSW 12 30,308,013 (GRCm39) missense probably damaging 1.00
R6373:Sntg2 UTSW 12 30,308,040 (GRCm39) missense probably benign 0.08
R7314:Sntg2 UTSW 12 30,317,107 (GRCm39) missense probably benign 0.01
R7494:Sntg2 UTSW 12 30,279,633 (GRCm39) missense possibly damaging 0.89
R7571:Sntg2 UTSW 12 30,225,201 (GRCm39) missense probably damaging 0.99
R7749:Sntg2 UTSW 12 30,276,910 (GRCm39) missense probably benign 0.01
R9375:Sntg2 UTSW 12 30,293,343 (GRCm39) critical splice acceptor site probably null
R9616:Sntg2 UTSW 12 30,326,732 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ACAGAGACAATGCCTATGCCTGC -3'
(R):5'- TGGCTCTGAGATCCTCCTCCAAAC -3'

Sequencing Primer
(F):5'- TATGCCTGCCAACAGTGC -3'
(R):5'- CCAAGCATGGGTGATGCTTTC -3'
Posted On 2013-07-11