Incidental Mutation 'R6849:Sorbs1'
ID 534948
Institutional Source Beutler Lab
Gene Symbol Sorbs1
Ensembl Gene ENSMUSG00000025006
Gene Name sorbin and SH3 domain containing 1
Synonyms c-Cbl-associated protein, Ponsin, CAP, 2310065E01Rik, 9530001P15Rik, Sh3d5
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.815) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40283197-40502223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 40365244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 180 (R180G)
Ref Sequence ENSEMBL: ENSMUSP00000153313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099466] [ENSMUST00000099467] [ENSMUST00000165212] [ENSMUST00000165469] [ENSMUST00000224233] [ENSMUST00000224247] [ENSMUST00000224583] [ENSMUST00000224667] [ENSMUST00000225148] [ENSMUST00000225153] [ENSMUST00000225786] [ENSMUST00000226047]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099466
SMART Domains Protein: ENSMUSP00000097065
Gene: ENSMUSG00000025006

DomainStartEndE-ValueType
low complexity region 45 63 N/A INTRINSIC
Sorb 203 249 1.07e-26 SMART
SH3 502 557 2.72e-18 SMART
SH3 576 633 9.32e-17 SMART
low complexity region 647 660 N/A INTRINSIC
SH3 682 739 3.7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099467
AA Change: R180G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006
AA Change: R180G

DomainStartEndE-ValueType
low complexity region 45 63 N/A INTRINSIC
low complexity region 192 213 N/A INTRINSIC
Sorb 327 373 1.24e-22 SMART
coiled coil region 558 584 N/A INTRINSIC
SH3 700 755 2.72e-18 SMART
SH3 774 831 9.32e-17 SMART
low complexity region 845 858 N/A INTRINSIC
SH3 880 937 3.7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165212
SMART Domains Protein: ENSMUSP00000126460
Gene: ENSMUSG00000025006

DomainStartEndE-ValueType
low complexity region 45 63 N/A INTRINSIC
Sorb 193 239 1.07e-26 SMART
SH3 486 541 2.72e-18 SMART
SH3 560 617 9.32e-17 SMART
low complexity region 631 644 N/A INTRINSIC
SH3 666 723 3.7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165469
SMART Domains Protein: ENSMUSP00000125768
Gene: ENSMUSG00000025006

DomainStartEndE-ValueType
low complexity region 75 93 N/A INTRINSIC
Sorb 233 279 1.07e-26 SMART
SH3 476 531 2.72e-18 SMART
SH3 550 607 9.32e-17 SMART
low complexity region 621 634 N/A INTRINSIC
SH3 656 713 3.7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224233
Predicted Effect probably benign
Transcript: ENSMUST00000224247
Predicted Effect probably benign
Transcript: ENSMUST00000224583
Predicted Effect probably benign
Transcript: ENSMUST00000224667
Predicted Effect probably benign
Transcript: ENSMUST00000225148
Predicted Effect probably benign
Transcript: ENSMUST00000225153
AA Change: R180G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225786
Predicted Effect probably benign
Transcript: ENSMUST00000226047
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly damaging Het
Other mutations in Sorbs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Sorbs1 APN 19 40,306,473 (GRCm39) missense probably damaging 1.00
IGL00776:Sorbs1 APN 19 40,332,795 (GRCm39) splice site probably null
IGL00788:Sorbs1 APN 19 40,325,487 (GRCm39) splice site probably benign
IGL00943:Sorbs1 APN 19 40,283,484 (GRCm39) utr 3 prime probably benign
IGL01525:Sorbs1 APN 19 40,338,422 (GRCm39) missense probably damaging 1.00
IGL01530:Sorbs1 APN 19 40,365,091 (GRCm39) missense probably benign 0.01
IGL01951:Sorbs1 APN 19 40,306,460 (GRCm39) splice site probably benign
IGL02159:Sorbs1 APN 19 40,316,040 (GRCm39) missense probably damaging 0.96
IGL02252:Sorbs1 APN 19 40,302,841 (GRCm39) missense probably damaging 1.00
IGL02613:Sorbs1 APN 19 40,315,991 (GRCm39) missense probably damaging 1.00
IGL02643:Sorbs1 APN 19 40,353,577 (GRCm39) missense possibly damaging 0.65
IGL02668:Sorbs1 APN 19 40,303,125 (GRCm39) missense probably damaging 1.00
IGL02738:Sorbs1 APN 19 40,365,348 (GRCm39) missense probably damaging 0.97
IGL02965:Sorbs1 APN 19 40,365,187 (GRCm39) missense probably benign 0.01
IGL03083:Sorbs1 APN 19 40,302,820 (GRCm39) missense probably damaging 1.00
IGL03173:Sorbs1 APN 19 40,351,706 (GRCm39) missense probably damaging 1.00
IGL03286:Sorbs1 APN 19 40,332,858 (GRCm39) missense probably damaging 0.99
IGL03292:Sorbs1 APN 19 40,362,009 (GRCm39) missense possibly damaging 0.79
R0016:Sorbs1 UTSW 19 40,303,182 (GRCm39) splice site probably benign
R0016:Sorbs1 UTSW 19 40,303,182 (GRCm39) splice site probably benign
R0306:Sorbs1 UTSW 19 40,332,855 (GRCm39) missense possibly damaging 0.94
R0526:Sorbs1 UTSW 19 40,338,392 (GRCm39) missense probably damaging 1.00
R0551:Sorbs1 UTSW 19 40,300,260 (GRCm39) missense probably damaging 1.00
R0688:Sorbs1 UTSW 19 40,351,706 (GRCm39) missense probably damaging 1.00
R1185:Sorbs1 UTSW 19 40,371,050 (GRCm39) missense probably damaging 1.00
R1185:Sorbs1 UTSW 19 40,371,050 (GRCm39) missense probably damaging 1.00
R1185:Sorbs1 UTSW 19 40,371,050 (GRCm39) missense probably damaging 1.00
R1891:Sorbs1 UTSW 19 40,381,904 (GRCm39) missense probably damaging 0.99
R2066:Sorbs1 UTSW 19 40,353,472 (GRCm39) splice site probably null
R2148:Sorbs1 UTSW 19 40,365,268 (GRCm39) missense possibly damaging 0.94
R2214:Sorbs1 UTSW 19 40,285,075 (GRCm39) missense probably damaging 1.00
R2410:Sorbs1 UTSW 19 40,361,959 (GRCm39) missense probably damaging 0.99
R2940:Sorbs1 UTSW 19 40,362,015 (GRCm39) missense probably damaging 1.00
R3847:Sorbs1 UTSW 19 40,302,887 (GRCm39) missense probably damaging 0.97
R4405:Sorbs1 UTSW 19 40,384,189 (GRCm39) missense probably benign 0.03
R4544:Sorbs1 UTSW 19 40,300,294 (GRCm39) missense probably damaging 0.99
R4618:Sorbs1 UTSW 19 40,361,962 (GRCm39) missense probably damaging 0.99
R4731:Sorbs1 UTSW 19 40,303,133 (GRCm39) missense probably benign 0.29
R4732:Sorbs1 UTSW 19 40,303,133 (GRCm39) missense probably benign 0.29
R4733:Sorbs1 UTSW 19 40,303,133 (GRCm39) missense probably benign 0.29
R4860:Sorbs1 UTSW 19 40,325,449 (GRCm39) missense probably benign 0.44
R4860:Sorbs1 UTSW 19 40,325,449 (GRCm39) missense probably benign 0.44
R4907:Sorbs1 UTSW 19 40,328,491 (GRCm39) nonsense probably null
R4912:Sorbs1 UTSW 19 40,300,171 (GRCm39) missense probably damaging 1.00
R5229:Sorbs1 UTSW 19 40,329,151 (GRCm39) missense probably damaging 1.00
R5285:Sorbs1 UTSW 19 40,310,334 (GRCm39) missense probably damaging 1.00
R5416:Sorbs1 UTSW 19 40,365,433 (GRCm39) missense probably benign 0.06
R5706:Sorbs1 UTSW 19 40,365,325 (GRCm39) missense probably benign
R5871:Sorbs1 UTSW 19 40,387,027 (GRCm39) missense probably damaging 1.00
R5936:Sorbs1 UTSW 19 40,313,216 (GRCm39) missense probably damaging 0.96
R6073:Sorbs1 UTSW 19 40,303,101 (GRCm39) missense probably damaging 1.00
R6324:Sorbs1 UTSW 19 40,310,263 (GRCm39) missense probably damaging 0.99
R6343:Sorbs1 UTSW 19 40,365,426 (GRCm39) critical splice donor site probably null
R6561:Sorbs1 UTSW 19 40,314,496 (GRCm39) missense probably benign
R6646:Sorbs1 UTSW 19 40,313,993 (GRCm39) missense probably damaging 1.00
R6768:Sorbs1 UTSW 19 40,315,991 (GRCm39) missense probably damaging 1.00
R6850:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R6878:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R6879:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R6880:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R6908:Sorbs1 UTSW 19 40,340,776 (GRCm39) missense probably damaging 1.00
R6980:Sorbs1 UTSW 19 40,316,060 (GRCm39) nonsense probably null
R7040:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7041:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7110:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7122:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7170:Sorbs1 UTSW 19 40,314,573 (GRCm39) nonsense probably null
R7180:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7185:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7187:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7254:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7255:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7401:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7595:Sorbs1 UTSW 19 40,303,097 (GRCm39) missense probably damaging 0.99
R7819:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R7876:Sorbs1 UTSW 19 40,285,032 (GRCm39) missense probably damaging 1.00
R7894:Sorbs1 UTSW 19 40,316,020 (GRCm39) missense probably benign 0.02
R7986:Sorbs1 UTSW 19 40,353,449 (GRCm39) missense probably damaging 0.99
R8031:Sorbs1 UTSW 19 40,314,933 (GRCm39) missense probably benign 0.17
R8082:Sorbs1 UTSW 19 40,353,527 (GRCm39) missense probably benign 0.08
R8282:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8283:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8446:Sorbs1 UTSW 19 40,314,602 (GRCm39) missense probably benign
R8526:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8527:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8528:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8539:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8540:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8542:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8543:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8544:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8545:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8684:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8699:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8702:Sorbs1 UTSW 19 40,365,244 (GRCm39) missense probably benign
R8752:Sorbs1 UTSW 19 40,349,872 (GRCm39) critical splice donor site probably null
R8937:Sorbs1 UTSW 19 40,362,006 (GRCm39) missense probably benign 0.02
R8956:Sorbs1 UTSW 19 40,351,660 (GRCm39) missense probably damaging 1.00
R8960:Sorbs1 UTSW 19 40,387,048 (GRCm39) missense probably damaging 0.98
R9175:Sorbs1 UTSW 19 40,315,018 (GRCm39) missense probably damaging 1.00
R9208:Sorbs1 UTSW 19 40,353,462 (GRCm39) start gained probably benign
R9211:Sorbs1 UTSW 19 40,332,798 (GRCm39) critical splice donor site probably null
R9371:Sorbs1 UTSW 19 40,315,324 (GRCm39) missense probably damaging 0.98
R9374:Sorbs1 UTSW 19 40,361,923 (GRCm39) nonsense probably null
R9377:Sorbs1 UTSW 19 40,387,048 (GRCm39) missense probably damaging 0.98
R9551:Sorbs1 UTSW 19 40,361,923 (GRCm39) nonsense probably null
R9552:Sorbs1 UTSW 19 40,361,923 (GRCm39) nonsense probably null
R9686:Sorbs1 UTSW 19 40,381,954 (GRCm39) missense probably damaging 1.00
Z1177:Sorbs1 UTSW 19 40,315,339 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAGCAGACATTCAGGGTAGC -3'
(R):5'- AGCCCCGTCTGAGGTAATAGTTG -3'

Sequencing Primer
(F):5'- ACATTCAGGGTAGCCGTGG -3'
(R):5'- CCGTCTGAGGTAATAGTTGTTCCTC -3'
Posted On 2018-09-12