Incidental Mutation 'R6998:Sh3glb2'
ID 544324
Institutional Source Beutler Lab
Gene Symbol Sh3glb2
Ensembl Gene ENSMUSG00000026860
Gene Name SH3-domain GRB2-like endophilin B2
Synonyms
MMRRC Submission 045010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R6998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30234821-30249349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30245333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 49 (T49S)
Ref Sequence ENSEMBL: ENSMUSP00000109251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
AlphaFold Q8R3V5
Predicted Effect probably damaging
Transcript: ENSMUST00000028214
AA Change: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: T49S

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 damaging
Transcript: ENSMUST00000100215
AA Change: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: T49S

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: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: T49S

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: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: T49S

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: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: T49S

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,070,026 (GRCm39) R620G probably benign Het
Adcy1 A C 11: 7,029,026 (GRCm39) N259H probably damaging Het
Ahctf1 G A 1: 179,598,480 (GRCm39) R2* probably null Het
Akr1c21 A G 13: 4,633,850 (GRCm39) I306M probably benign Het
Alg9 T A 9: 50,700,921 (GRCm39) S230R possibly damaging Het
Armt1 T A 10: 4,403,937 (GRCm39) C341S probably benign Het
Aspg T A 12: 112,078,628 (GRCm39) L29M probably damaging Het
Aspm C T 1: 139,397,210 (GRCm39) T934I probably damaging Het
C1rl T C 6: 124,485,861 (GRCm39) S411P probably damaging Het
Card14 A G 11: 119,213,725 (GRCm39) E224G probably damaging Het
Ccdc88c T C 12: 100,883,111 (GRCm39) H1587R probably damaging Het
Ccp110 A G 7: 118,332,120 (GRCm39) T963A possibly damaging Het
Cdk11b G A 4: 155,732,800 (GRCm39) W546* probably null Het
Cyp8b1 T C 9: 121,745,059 (GRCm39) N91S probably benign Het
Dab2 G T 15: 6,454,130 (GRCm39) M213I possibly damaging Het
Decr1 A G 4: 15,930,960 (GRCm39) V124A probably damaging Het
Fbxl13 T A 5: 21,748,687 (GRCm39) I411F probably damaging Het
Fbxl13 T C 5: 21,825,611 (GRCm39) I164V probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Garem2 T C 5: 30,319,168 (GRCm39) M210T possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Ighv1-52 C A 12: 115,109,112 (GRCm39) A115S probably benign Het
Igkv6-13 A G 6: 70,434,573 (GRCm39) S91P probably damaging Het
Ints8 T A 4: 11,204,537 (GRCm39) E973V possibly damaging Het
Itga3 T C 11: 94,942,288 (GRCm39) K972R probably benign Het
Klhl33 A T 14: 51,130,478 (GRCm39) F339I probably benign Het
Krt79 T C 15: 101,846,307 (GRCm39) M214V probably benign Het
Lgsn A T 1: 31,243,274 (GRCm39) H452L probably benign Het
Limd2 C T 11: 106,049,516 (GRCm39) G124D probably benign Het
Luzp1 T C 4: 136,270,755 (GRCm39) S993P probably damaging Het
Maml2 C T 9: 13,532,481 (GRCm39) probably benign Het
Mbtd1 A T 11: 93,815,438 (GRCm39) H342L probably damaging Het
Mfhas1 C A 8: 36,058,510 (GRCm39) P995Q probably damaging Het
Muc5ac T C 7: 141,372,451 (GRCm39) F3399S possibly damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2 G T 2: 29,802,629 (GRCm39) A298S probably benign Het
Or11g7 A T 14: 50,690,890 (GRCm39) Y127F probably benign Het
Or4s2b A T 2: 88,508,852 (GRCm39) I218F probably benign Het
Or8k35 A T 2: 86,424,488 (GRCm39) M228K probably damaging Het
Pcsk5 T C 19: 17,450,476 (GRCm39) D1124G probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pik3c2b T G 1: 133,030,110 (GRCm39) I1457S probably benign Het
Pole2 T C 12: 69,260,680 (GRCm39) T167A possibly damaging Het
Rfx7 T A 9: 72,525,787 (GRCm39) S992R probably damaging Het
Ryr2 G T 13: 11,727,052 (GRCm39) S2436R probably damaging Het
Sgo2a A G 1: 58,055,799 (GRCm39) D661G probably damaging Het
Slc16a10 T C 10: 39,932,499 (GRCm39) K354R possibly damaging Het
Slc6a6 C A 6: 91,729,419 (GRCm39) T568K probably benign Het
Sptbn1 T C 11: 30,050,633 (GRCm39) T2319A probably damaging Het
Tbl1xr1 T A 3: 22,233,454 (GRCm39) Y15N probably damaging Het
Thyn1 T C 9: 26,917,738 (GRCm39) S160P probably damaging Het
Tshz1 A T 18: 84,033,966 (GRCm39) D147E probably benign Het
Vmn2r50 T G 7: 9,771,684 (GRCm39) R672S probably benign Het
Zfp663 A T 2: 165,195,922 (GRCm39) I99N possibly 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
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
R9594:Sh3glb2 UTSW 2 30,236,672 (GRCm39) missense probably damaging 1.00
R9595:Sh3glb2 UTSW 2 30,236,672 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCAAGTCTCACAGAGCTG -3'
(R):5'- ACCAGAGATGCTATGGGGTTTC -3'

Sequencing Primer
(F):5'- GTCTCACAGAGCTGAAGTCAG -3'
(R):5'- GGTTTCCAGGAGCCTCAATC -3'
Posted On 2019-05-13