Incidental Mutation 'R9594:Sh3glb2'
ID 723136
Institutional Source Beutler Lab
Gene Symbol Sh3glb2
Ensembl Gene ENSMUSG00000026860
Gene Name SH3-domain GRB2-like endophilin B2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R9594 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30234821-30249349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30236672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 230 (R230Q)
Ref Sequence ENSEMBL: ENSMUSP00000097788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
AlphaFold Q8R3V5
Predicted Effect probably damaging
Transcript: ENSMUST00000028214
AA Change: R230Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: R230Q

DomainStartEndE-ValueType
BAR 7 280 8.25e-92 SMART
low complexity region 288 334 N/A INTRINSIC
SH3 338 395 2.16e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064447
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
Pfam:Nup188 31 941 9.3e-213 PFAM
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1307 1320 N/A INTRINSIC
low complexity region 1330 1360 N/A INTRINSIC
low complexity region 1696 1709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100215
AA Change: R230Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: R230Q

DomainStartEndE-ValueType
BAR 7 280 4.42e-92 SMART
low complexity region 293 339 N/A INTRINSIC
SH3 343 400 2.16e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113620
AA Change: R209Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: R209Q

DomainStartEndE-ValueType
BAR 7 259 3.85e-92 SMART
low complexity region 267 313 N/A INTRINSIC
SH3 317 374 2.16e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113621
AA Change: R234Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: R234Q

DomainStartEndE-ValueType
BAR 7 284 5.36e-91 SMART
low complexity region 297 343 N/A INTRINSIC
SH3 347 404 2.16e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163668
AA Change: R209Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: R209Q

DomainStartEndE-ValueType
BAR 7 259 2.06e-92 SMART
low complexity region 272 318 N/A INTRINSIC
SH3 322 379 2.16e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aida T C 1: 183,095,012 (GRCm39) V151A possibly damaging Het
Akap3 T C 6: 126,842,377 (GRCm39) V332A probably damaging Het
Apobec3 T A 15: 79,790,653 (GRCm39) W332R Het
Atf6 A G 1: 170,668,402 (GRCm39) V166A probably benign Het
Bcl6b A G 11: 70,118,858 (GRCm39) probably null Het
Brd3 G T 2: 27,340,373 (GRCm39) P612Q probably damaging Het
Btg1 T A 10: 96,453,263 (GRCm39) L26H probably damaging Het
Btg4 A G 9: 51,030,560 (GRCm39) D220G probably damaging Het
Cd209e T C 8: 3,901,183 (GRCm39) D157G probably benign Het
Cdhr18 A T 14: 13,814,959 (GRCm38) L858Q unknown Het
Cimip2b T G 4: 43,427,329 (GRCm39) T332P unknown Het
Dnah10 T C 5: 124,907,107 (GRCm39) L4269P probably damaging Het
Dync1li2 C A 8: 105,154,752 (GRCm39) K285N possibly damaging Het
Ehmt2 C A 17: 35,118,740 (GRCm39) Q198K possibly damaging Het
Foxn3 C A 12: 99,359,294 (GRCm39) probably benign Het
Fstl4 C T 11: 52,664,694 (GRCm39) P8L probably benign Het
G6pc1 T C 11: 101,258,660 (GRCm39) I13T possibly damaging Het
Ghrhr A G 6: 55,362,470 (GRCm39) I356V probably benign Het
Gm14410 A T 2: 176,885,773 (GRCm39) C164S probably damaging Het
Gpcpd1 A T 2: 132,388,848 (GRCm39) M308K possibly damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Gpr179 T C 11: 97,225,727 (GRCm39) K2143E probably benign Het
Grm2 G A 9: 106,524,408 (GRCm39) T298I probably damaging Het
H2-T24 A T 17: 36,326,455 (GRCm39) L148Q probably damaging Het
Hcn2 C T 10: 79,560,559 (GRCm39) R297C probably damaging Het
Hic1 T C 11: 75,056,757 (GRCm39) T711A possibly damaging Het
Ide T C 19: 37,264,514 (GRCm39) D672G Het
Impg1 A G 9: 80,288,923 (GRCm39) F378S probably damaging Het
Lipe T C 7: 25,098,128 (GRCm39) probably benign Het
Lmo7 A G 14: 102,156,136 (GRCm39) D1270G probably null Het
Mbnl1 A T 3: 60,520,859 (GRCm39) H149L probably damaging Het
Mmel1 T C 4: 154,978,592 (GRCm39) Y675H probably benign Het
Mrfap1 C A 5: 36,953,807 (GRCm39) R44L probably damaging Het
Nherf2 G T 17: 24,868,922 (GRCm39) T68K probably damaging Het
Notch2 A G 3: 98,041,889 (GRCm39) T1303A possibly damaging Het
Olfm3 A G 3: 114,883,785 (GRCm39) D62G probably damaging Het
Or10ak13 T C 4: 118,638,952 (GRCm39) I277V probably benign Het
Or2i1 C G 17: 37,508,308 (GRCm39) A109P possibly damaging Het
Or5g27 C T 2: 85,409,882 (GRCm39) Q100* probably null Het
Or5l13 T C 2: 87,780,544 (GRCm39) E11G probably damaging Het
Or5p59 T G 7: 107,702,663 (GRCm39) I49S probably damaging Het
Or6c8b T A 10: 128,882,354 (GRCm39) I193F probably benign Het
Pcbd2 A G 13: 55,880,849 (GRCm39) Y68C probably benign Het
Phf3 G C 1: 30,869,003 (GRCm39) Q682E probably benign Het
Ptpn6 C A 6: 124,704,728 (GRCm39) R294L probably benign Het
Ptprz1 T A 6: 23,025,026 (GRCm39) V1754D probably damaging Het
Rab36 T A 10: 74,887,873 (GRCm39) I248K probably damaging Het
Rabac1 A G 7: 24,671,579 (GRCm39) Y114H probably benign Het
Rag1 A G 2: 101,474,701 (GRCm39) V147A probably benign Het
Rnf150 T A 8: 83,717,144 (GRCm39) V217D probably damaging Het
Scarf2 G T 16: 17,620,473 (GRCm39) C101F probably damaging Het
Slc13a1 A G 6: 24,089,100 (GRCm39) V550A probably damaging Het
Sp140 A G 1: 85,560,235 (GRCm39) N289S possibly damaging Het
Spmip6 T C 4: 41,505,091 (GRCm39) E207G Het
Stac3 T A 10: 127,338,654 (GRCm39) M1K probably null Het
Stk31 C T 6: 49,424,221 (GRCm39) T845I possibly damaging Het
Sufu T C 19: 46,385,674 (GRCm39) Y45H probably damaging Het
Tg T A 15: 66,607,109 (GRCm39) C1834* probably null Het
Tns3 G A 11: 8,401,142 (GRCm39) T1052M possibly damaging Het
Tpcn1 T C 5: 120,686,021 (GRCm39) T427A possibly damaging Het
Trim45 A G 3: 100,830,265 (GRCm39) H13R probably benign Het
Trpv5 A G 6: 41,647,773 (GRCm39) F347L probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Zfp236 G T 18: 82,664,238 (GRCm39) Q516K probably damaging Het
Other mutations in Sh3glb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Sh3glb2 APN 2 30,235,862 (GRCm39) missense possibly damaging 0.73
IGL02189:Sh3glb2 APN 2 30,235,351 (GRCm39) splice site probably null
IGL02724:Sh3glb2 APN 2 30,236,368 (GRCm39) missense probably benign 0.02
IGL03352:Sh3glb2 APN 2 30,235,363 (GRCm39) missense probably damaging 1.00
R1162:Sh3glb2 UTSW 2 30,240,600 (GRCm39) missense probably damaging 1.00
R1517:Sh3glb2 UTSW 2 30,244,987 (GRCm39) missense probably damaging 1.00
R1725:Sh3glb2 UTSW 2 30,240,679 (GRCm39) nonsense probably null
R3894:Sh3glb2 UTSW 2 30,245,300 (GRCm39) missense probably damaging 0.97
R4523:Sh3glb2 UTSW 2 30,240,711 (GRCm39) missense probably damaging 0.98
R5587:Sh3glb2 UTSW 2 30,244,863 (GRCm39) critical splice donor site probably null
R5933:Sh3glb2 UTSW 2 30,240,401 (GRCm39) splice site probably null
R6215:Sh3glb2 UTSW 2 30,235,805 (GRCm39) missense possibly damaging 0.88
R6679:Sh3glb2 UTSW 2 30,240,631 (GRCm39) missense probably damaging 1.00
R6998:Sh3glb2 UTSW 2 30,245,333 (GRCm39) missense probably damaging 1.00
R8499:Sh3glb2 UTSW 2 30,249,216 (GRCm39) start codon destroyed probably null 1.00
R8500:Sh3glb2 UTSW 2 30,249,216 (GRCm39) start codon destroyed probably null 1.00
R9380:Sh3glb2 UTSW 2 30,238,625 (GRCm39) missense probably damaging 0.96
R9595:Sh3glb2 UTSW 2 30,236,672 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCTGGAAAGAAGGTCTCC -3'
(R):5'- ACAGGTTCCAAATGGCTCTGG -3'

Sequencing Primer
(F):5'- AGCTAACCTCTGGCCTGAGTATG -3'
(R):5'- AAATGGCTCTGGCTCCTCTGG -3'
Posted On 2022-08-09