Incidental Mutation 'R5033:Sh3tc2'
ID 389417
Institutional Source Beutler Lab
Gene Symbol Sh3tc2
Ensembl Gene ENSMUSG00000045629
Gene Name SH3 domain and tetratricopeptide repeats 2
Synonyms D430044G18Rik
MMRRC Submission 042624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5033 (G1)
Quality Score 193
Status Not validated
Chromosome 18
Chromosomal Location 62086002-62148790 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 62147962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051720] [ENSMUST00000051720] [ENSMUST00000051720]
AlphaFold Q80VA5
Predicted Effect probably null
Transcript: ENSMUST00000051720
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

DomainStartEndE-ValueType
coiled coil region 75 101 N/A INTRINSIC
SH3 179 238 1.02e0 SMART
SH3 270 329 6.76e-5 SMART
low complexity region 414 425 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 486 503 N/A INTRINSIC
TPR 529 562 3.24e1 SMART
low complexity region 568 581 N/A INTRINSIC
TPR 837 870 2.66e0 SMART
Blast:TPR 877 910 2e-7 BLAST
low complexity region 1011 1025 N/A INTRINSIC
Blast:TPR 1045 1078 1e-12 BLAST
Blast:TPR 1127 1158 3e-7 BLAST
TPR 1167 1200 1.04e-2 SMART
Blast:TPR 1211 1235 5e-7 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000051720
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

DomainStartEndE-ValueType
coiled coil region 75 101 N/A INTRINSIC
SH3 179 238 1.02e0 SMART
SH3 270 329 6.76e-5 SMART
low complexity region 414 425 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 486 503 N/A INTRINSIC
TPR 529 562 3.24e1 SMART
low complexity region 568 581 N/A INTRINSIC
TPR 837 870 2.66e0 SMART
Blast:TPR 877 910 2e-7 BLAST
low complexity region 1011 1025 N/A INTRINSIC
Blast:TPR 1045 1078 1e-12 BLAST
Blast:TPR 1127 1158 3e-7 BLAST
TPR 1167 1200 1.04e-2 SMART
Blast:TPR 1211 1235 5e-7 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000051720
SMART Domains Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

DomainStartEndE-ValueType
coiled coil region 75 101 N/A INTRINSIC
SH3 179 238 1.02e0 SMART
SH3 270 329 6.76e-5 SMART
low complexity region 414 425 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 486 503 N/A INTRINSIC
TPR 529 562 3.24e1 SMART
low complexity region 568 581 N/A INTRINSIC
TPR 837 870 2.66e0 SMART
Blast:TPR 877 910 2e-7 BLAST
low complexity region 1011 1025 N/A INTRINSIC
Blast:TPR 1045 1078 1e-12 BLAST
Blast:TPR 1127 1158 3e-7 BLAST
TPR 1167 1200 1.04e-2 SMART
Blast:TPR 1211 1235 5e-7 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]
Allele List at MGI

 All alleles(3) : Targeted, other(3)

Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P probably benign Het
Other mutations in Sh3tc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Sh3tc2 APN 18 62,122,582 (GRCm39) missense probably damaging 1.00
IGL01523:Sh3tc2 APN 18 62,123,954 (GRCm39) missense probably benign 0.00
IGL02036:Sh3tc2 APN 18 62,147,978 (GRCm39) missense probably benign 0.17
IGL02189:Sh3tc2 APN 18 62,123,693 (GRCm39) missense probably benign 0.00
IGL02555:Sh3tc2 APN 18 62,123,308 (GRCm39) missense probably damaging 0.99
IGL02827:Sh3tc2 APN 18 62,146,230 (GRCm39) missense probably benign 0.34
IGL03033:Sh3tc2 APN 18 62,107,549 (GRCm39) missense possibly damaging 0.90
IGL03040:Sh3tc2 APN 18 62,122,481 (GRCm39) missense probably benign 0.00
IGL03062:Sh3tc2 APN 18 62,144,951 (GRCm39) missense probably damaging 1.00
IGL03386:Sh3tc2 APN 18 62,106,382 (GRCm39) missense probably benign 0.39
3-1:Sh3tc2 UTSW 18 62,124,209 (GRCm39) missense probably damaging 1.00
R1085:Sh3tc2 UTSW 18 62,148,067 (GRCm39) missense probably benign 0.01
R1166:Sh3tc2 UTSW 18 62,124,247 (GRCm39) missense probably damaging 0.99
R1182:Sh3tc2 UTSW 18 62,101,171 (GRCm39) missense probably benign 0.17
R1521:Sh3tc2 UTSW 18 62,141,559 (GRCm39) missense probably damaging 0.96
R1636:Sh3tc2 UTSW 18 62,122,792 (GRCm39) missense probably damaging 0.98
R1872:Sh3tc2 UTSW 18 62,144,954 (GRCm39) missense probably damaging 1.00
R1884:Sh3tc2 UTSW 18 62,141,646 (GRCm39) missense probably damaging 1.00
R1964:Sh3tc2 UTSW 18 62,124,226 (GRCm39) nonsense probably null
R2034:Sh3tc2 UTSW 18 62,120,737 (GRCm39) missense probably damaging 1.00
R2046:Sh3tc2 UTSW 18 62,123,914 (GRCm39) missense probably benign
R2113:Sh3tc2 UTSW 18 62,146,176 (GRCm39) missense probably damaging 1.00
R2363:Sh3tc2 UTSW 18 62,123,966 (GRCm39) missense probably benign 0.07
R2940:Sh3tc2 UTSW 18 62,122,757 (GRCm39) missense probably damaging 1.00
R2979:Sh3tc2 UTSW 18 62,122,556 (GRCm39) missense probably damaging 1.00
R3717:Sh3tc2 UTSW 18 62,123,414 (GRCm39) missense probably benign 0.04
R3718:Sh3tc2 UTSW 18 62,123,414 (GRCm39) missense probably benign 0.04
R4334:Sh3tc2 UTSW 18 62,123,392 (GRCm39) missense probably damaging 1.00
R4454:Sh3tc2 UTSW 18 62,140,844 (GRCm39) missense probably damaging 1.00
R4503:Sh3tc2 UTSW 18 62,107,694 (GRCm39) missense probably damaging 0.96
R4515:Sh3tc2 UTSW 18 62,120,764 (GRCm39) splice site probably null
R4659:Sh3tc2 UTSW 18 62,107,580 (GRCm39) missense probably benign 0.00
R4859:Sh3tc2 UTSW 18 62,146,164 (GRCm39) missense probably benign 0.00
R4901:Sh3tc2 UTSW 18 62,123,506 (GRCm39) missense probably benign 0.03
R5269:Sh3tc2 UTSW 18 62,108,684 (GRCm39) missense probably benign 0.00
R5439:Sh3tc2 UTSW 18 62,122,704 (GRCm39) nonsense probably null
R5467:Sh3tc2 UTSW 18 62,123,759 (GRCm39) missense possibly damaging 0.81
R5468:Sh3tc2 UTSW 18 62,106,502 (GRCm39) critical splice donor site probably null
R5527:Sh3tc2 UTSW 18 62,144,932 (GRCm39) missense probably benign 0.00
R5829:Sh3tc2 UTSW 18 62,123,986 (GRCm39) missense probably benign 0.19
R5880:Sh3tc2 UTSW 18 62,106,382 (GRCm39) missense probably benign 0.39
R5948:Sh3tc2 UTSW 18 62,146,176 (GRCm39) missense probably damaging 1.00
R5951:Sh3tc2 UTSW 18 62,123,078 (GRCm39) missense probably damaging 1.00
R5973:Sh3tc2 UTSW 18 62,110,975 (GRCm39) missense probably benign 0.06
R5995:Sh3tc2 UTSW 18 62,123,081 (GRCm39) missense probably damaging 0.96
R6309:Sh3tc2 UTSW 18 62,101,081 (GRCm39) missense probably damaging 0.98
R6339:Sh3tc2 UTSW 18 62,108,642 (GRCm39) nonsense probably null
R6648:Sh3tc2 UTSW 18 62,148,111 (GRCm39) missense probably benign 0.00
R6723:Sh3tc2 UTSW 18 62,111,025 (GRCm39) missense probably damaging 1.00
R6752:Sh3tc2 UTSW 18 62,094,108 (GRCm39) missense probably benign 0.00
R7211:Sh3tc2 UTSW 18 62,122,474 (GRCm39) missense probably benign
R7367:Sh3tc2 UTSW 18 62,122,577 (GRCm39) missense probably benign 0.00
R7664:Sh3tc2 UTSW 18 62,148,042 (GRCm39) nonsense probably null
R7727:Sh3tc2 UTSW 18 62,122,651 (GRCm39) missense probably benign 0.02
R7823:Sh3tc2 UTSW 18 62,086,188 (GRCm39) start codon destroyed probably null 1.00
R8191:Sh3tc2 UTSW 18 62,106,429 (GRCm39) missense probably damaging 1.00
R8204:Sh3tc2 UTSW 18 62,086,200 (GRCm39) missense probably damaging 1.00
R8219:Sh3tc2 UTSW 18 62,144,932 (GRCm39) missense probably benign 0.00
R8260:Sh3tc2 UTSW 18 62,146,137 (GRCm39) missense probably damaging 1.00
R8413:Sh3tc2 UTSW 18 62,148,142 (GRCm39) missense probably benign 0.30
R8413:Sh3tc2 UTSW 18 62,123,873 (GRCm39) missense probably damaging 1.00
R9034:Sh3tc2 UTSW 18 62,107,571 (GRCm39) missense probably benign 0.07
R9043:Sh3tc2 UTSW 18 62,122,961 (GRCm39) missense possibly damaging 0.89
R9218:Sh3tc2 UTSW 18 62,101,101 (GRCm39) missense probably benign 0.09
R9249:Sh3tc2 UTSW 18 62,107,598 (GRCm39) missense possibly damaging 0.52
Z1176:Sh3tc2 UTSW 18 62,122,980 (GRCm39) nonsense probably null
Z1177:Sh3tc2 UTSW 18 62,148,062 (GRCm39) missense probably damaging 0.96
Z1177:Sh3tc2 UTSW 18 62,124,389 (GRCm39) missense probably benign 0.09
Z1177:Sh3tc2 UTSW 18 62,122,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACAGAGAATGCATGGTTTGGT -3'
(R):5'- CGTGCCCTCTCTGAAGAGC -3'

Sequencing Primer
(F):5'- GCAGTCAGTGTTCTTAACCACTGAG -3'
(R):5'- TCTCTGAAGAGCACCCGAAGG -3'
Posted On 2016-06-06