Incidental Mutation 'R2409:Sh2b1'
ID 248123
Institutional Source Beutler Lab
Gene Symbol Sh2b1
Ensembl Gene ENSMUSG00000030733
Gene Name SH2B adaptor protein 1
Synonyms SH2-Bb, Sh2bpsm1, Irip, SH2-B
MMRRC Submission 040375-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R2409 (G1)
Quality Score 218
Status Validated
Chromosome 7
Chromosomal Location 126066166-126074596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126070651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 350 (G350D)
Ref Sequence ENSEMBL: ENSMUSP00000146121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664] [ENSMUST00000206643]
AlphaFold Q91ZM2
Predicted Effect probably damaging
Transcript: ENSMUST00000032978
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: G350D

DomainStartEndE-ValueType
Pfam:Phe_ZIP 25 81 4.6e-25 PFAM
low complexity region 83 99 N/A INTRINSIC
low complexity region 133 151 N/A INTRINSIC
low complexity region 156 168 N/A INTRINSIC
low complexity region 195 205 N/A INTRINSIC
PH 247 378 4.82e-7 SMART
low complexity region 447 460 N/A INTRINSIC
low complexity region 466 483 N/A INTRINSIC
SH2 525 610 2.84e-23 SMART
low complexity region 668 677 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205340
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205440
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205497
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205733
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205889
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206664
AA Change: G350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206515
Meta Mutation Damage Score 0.1706 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice are infertile. Female mice have small, anovulatory ovaries with reduced numbers of follicles and male mice exhibit small testes and sperm deficits. Mice homozygous for a floxed allele activated in the pancreas exhibit impaired glucose homeostasis when fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably damaging Het
Other mutations in Sh2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Sh2b1 APN 7 126,068,465 (GRCm39) missense probably damaging 0.99
IGL02320:Sh2b1 APN 7 126,068,341 (GRCm39) missense probably benign 0.02
IGL02589:Sh2b1 APN 7 126,068,440 (GRCm39) missense probably benign 0.19
IGL02668:Sh2b1 APN 7 126,071,646 (GRCm39) missense possibly damaging 0.62
IGL03189:Sh2b1 APN 7 126,067,702 (GRCm39) missense possibly damaging 0.61
R0130:Sh2b1 UTSW 7 126,070,620 (GRCm39) missense possibly damaging 0.95
R0532:Sh2b1 UTSW 7 126,071,444 (GRCm39) missense probably benign 0.00
R2081:Sh2b1 UTSW 7 126,071,862 (GRCm39) missense possibly damaging 0.62
R2109:Sh2b1 UTSW 7 126,071,536 (GRCm39) missense possibly damaging 0.74
R2566:Sh2b1 UTSW 7 126,068,098 (GRCm39) missense probably damaging 0.99
R3752:Sh2b1 UTSW 7 126,067,959 (GRCm39) missense probably damaging 1.00
R4675:Sh2b1 UTSW 7 126,070,618 (GRCm39) missense possibly damaging 0.79
R4970:Sh2b1 UTSW 7 126,067,975 (GRCm39) missense probably damaging 1.00
R5102:Sh2b1 UTSW 7 126,070,408 (GRCm39) missense probably benign
R5912:Sh2b1 UTSW 7 126,070,642 (GRCm39) missense probably damaging 1.00
R7368:Sh2b1 UTSW 7 126,067,685 (GRCm39) missense possibly damaging 0.59
R7694:Sh2b1 UTSW 7 126,066,929 (GRCm39) missense probably benign 0.03
R7801:Sh2b1 UTSW 7 126,070,464 (GRCm39) missense probably benign 0.15
R8005:Sh2b1 UTSW 7 126,068,479 (GRCm39) missense possibly damaging 0.82
R8353:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8356:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8453:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8456:Sh2b1 UTSW 7 126,066,772 (GRCm39) nonsense probably null
R8456:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8683:Sh2b1 UTSW 7 126,066,743 (GRCm39) utr 3 prime probably benign
R8906:Sh2b1 UTSW 7 126,070,292 (GRCm39) critical splice donor site probably null
R8921:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8922:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9000:Sh2b1 UTSW 7 126,066,743 (GRCm39) utr 3 prime probably benign
R9000:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9269:Sh2b1 UTSW 7 126,068,354 (GRCm39) missense probably damaging 0.99
R9284:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9285:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9286:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9287:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,756 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,746 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,762 (GRCm39) utr 3 prime probably benign
R9403:Sh2b1 UTSW 7 126,066,747 (GRCm39) utr 3 prime probably benign
R9403:Sh2b1 UTSW 7 126,066,745 (GRCm39) nonsense probably null
R9403:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9404:Sh2b1 UTSW 7 126,066,771 (GRCm39) utr 3 prime probably benign
R9404:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9467:Sh2b1 UTSW 7 126,066,754 (GRCm39) nonsense probably null
R9467:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9482:Sh2b1 UTSW 7 126,066,768 (GRCm39) utr 3 prime probably benign
R9495:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9507:Sh2b1 UTSW 7 126,066,760 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,765 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,770 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
Z1176:Sh2b1 UTSW 7 126,066,903 (GRCm39) missense probably benign 0.23
Z1177:Sh2b1 UTSW 7 126,070,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGATAGCAGGACAGGGTCTAC -3'
(R):5'- CACGTTTGTGGTTAAGGTAGGAAC -3'

Sequencing Primer
(F):5'- TCTACAAAGACAGGGAAAATGGC -3'
(R):5'- CCTGTGCTTGAGAAAATGCTC -3'
Posted On 2014-11-11