Incidental Mutation 'R6737:Sh3bp2'
ID 530227
Institutional Source Beutler Lab
Gene Symbol Sh3bp2
Ensembl Gene ENSMUSG00000054520
Gene Name SH3-domain binding protein 2
Synonyms 3BP2
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6737 (G1)
Quality Score 131.008
Status Not validated
Chromosome 5
Chromosomal Location 34683182-34720985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34719818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 609 (Y609C)
Ref Sequence ENSEMBL: ENSMUSP00000112554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067638] [ENSMUST00000101316] [ENSMUST00000118545] [ENSMUST00000179943]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067638
AA Change: Y553C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520
AA Change: Y553C

DomainStartEndE-ValueType
PH 27 132 1.33e-18 SMART
low complexity region 141 151 N/A INTRINSIC
low complexity region 170 185 N/A INTRINSIC
low complexity region 200 216 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
low complexity region 313 327 N/A INTRINSIC
low complexity region 370 385 N/A INTRINSIC
SH2 453 542 2.04e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101316
AA Change: Y597C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520
AA Change: Y597C

DomainStartEndE-ValueType
PH 71 176 1.33e-18 SMART
low complexity region 185 195 N/A INTRINSIC
low complexity region 214 229 N/A INTRINSIC
low complexity region 244 260 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
low complexity region 357 371 N/A INTRINSIC
low complexity region 414 429 N/A INTRINSIC
SH2 497 586 2.04e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118545
AA Change: Y609C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: Y609C

DomainStartEndE-ValueType
PH 83 188 1.33e-18 SMART
low complexity region 197 207 N/A INTRINSIC
low complexity region 226 241 N/A INTRINSIC
low complexity region 256 272 N/A INTRINSIC
low complexity region 284 297 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
low complexity region 426 441 N/A INTRINSIC
SH2 509 598 2.04e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153750
Predicted Effect probably damaging
Transcript: ENSMUST00000179943
AA Change: Y553C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136671
Gene: ENSMUSG00000054520
AA Change: Y553C

DomainStartEndE-ValueType
PH 27 132 1.33e-18 SMART
low complexity region 141 151 N/A INTRINSIC
low complexity region 170 185 N/A INTRINSIC
low complexity region 200 216 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
low complexity region 313 327 N/A INTRINSIC
low complexity region 370 385 N/A INTRINSIC
SH2 453 542 2.04e-15 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q probably damaging Het
Zc3h14 A G 12: 98,751,305 (GRCm39) K667E probably damaging Het
Other mutations in Sh3bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Sh3bp2 APN 5 34,713,347 (GRCm39) missense probably damaging 0.99
IGL02478:Sh3bp2 APN 5 34,709,006 (GRCm39) missense probably damaging 1.00
IGL03196:Sh3bp2 APN 5 34,714,687 (GRCm39) missense probably damaging 1.00
IGL03329:Sh3bp2 APN 5 34,716,546 (GRCm39) missense probably benign 0.00
R0718:Sh3bp2 UTSW 5 34,712,839 (GRCm39) missense probably damaging 0.99
R1322:Sh3bp2 UTSW 5 34,712,837 (GRCm39) missense probably damaging 1.00
R1501:Sh3bp2 UTSW 5 34,712,920 (GRCm39) critical splice donor site probably null
R1573:Sh3bp2 UTSW 5 34,718,034 (GRCm39) missense probably benign 0.01
R1649:Sh3bp2 UTSW 5 34,716,348 (GRCm39) missense possibly damaging 0.61
R1939:Sh3bp2 UTSW 5 34,708,963 (GRCm39) missense probably damaging 1.00
R2021:Sh3bp2 UTSW 5 34,701,569 (GRCm39) critical splice acceptor site probably benign
R2372:Sh3bp2 UTSW 5 34,716,840 (GRCm39) missense probably benign 0.00
R2903:Sh3bp2 UTSW 5 34,700,900 (GRCm39) nonsense probably null
R3709:Sh3bp2 UTSW 5 34,709,002 (GRCm39) missense probably damaging 1.00
R4344:Sh3bp2 UTSW 5 34,712,886 (GRCm39) missense possibly damaging 0.86
R4391:Sh3bp2 UTSW 5 34,707,062 (GRCm39) missense probably benign
R5068:Sh3bp2 UTSW 5 34,714,311 (GRCm39) missense probably benign 0.00
R5637:Sh3bp2 UTSW 5 34,718,392 (GRCm39) missense possibly damaging 0.69
R5658:Sh3bp2 UTSW 5 34,714,291 (GRCm39) missense probably damaging 1.00
R6005:Sh3bp2 UTSW 5 34,719,809 (GRCm39) missense possibly damaging 0.65
R6014:Sh3bp2 UTSW 5 34,716,971 (GRCm39) missense probably benign 0.00
R6391:Sh3bp2 UTSW 5 34,718,947 (GRCm39) missense probably damaging 1.00
R7144:Sh3bp2 UTSW 5 34,718,975 (GRCm39) missense probably benign 0.00
R7536:Sh3bp2 UTSW 5 34,700,901 (GRCm39) missense probably benign
R7871:Sh3bp2 UTSW 5 34,716,429 (GRCm39) missense not run
R8775:Sh3bp2 UTSW 5 34,719,751 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Sh3bp2 UTSW 5 34,719,751 (GRCm39) missense probably damaging 1.00
R9052:Sh3bp2 UTSW 5 34,709,164 (GRCm39) intron probably benign
R9180:Sh3bp2 UTSW 5 34,718,377 (GRCm39) nonsense probably null
R9350:Sh3bp2 UTSW 5 34,718,453 (GRCm39) critical splice donor site probably null
R9687:Sh3bp2 UTSW 5 34,716,977 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTAGGCAGTGGGTTACTCAGTC -3'
(R):5'- CAGACCTGGGTTCTTGAGAG -3'

Sequencing Primer
(F):5'- AGTGGGTTACTCAGTCCCTGC -3'
(R):5'- TGGATGGGCCAAGTCATCCAG -3'
Posted On 2018-08-01