Incidental Mutation 'R1169:Itsn2'
ID 101537
Institutional Source Beutler Lab
Gene Symbol Itsn2
Ensembl Gene ENSMUSG00000020640
Gene Name intersectin 2
Synonyms Sh3d1B, Sh3p18, Ese2, Eh domain, SH3 domain regulator of endocytosis 2
MMRRC Submission 039242-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1169 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4642792-4763952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4689694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 589 (K589R)
Ref Sequence ENSEMBL: ENSMUSP00000151896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000219007] [ENSMUST00000220311]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000062580
AA Change: K589R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: K589R

DomainStartEndE-ValueType
EH 15 109 8.44e-41 SMART
EFh 58 86 7.18e-3 SMART
low complexity region 156 169 N/A INTRINSIC
low complexity region 215 231 N/A INTRINSIC
EH 238 333 4.06e-43 SMART
EFh 282 310 6.16e-2 SMART
coiled coil region 366 462 N/A INTRINSIC
coiled coil region 516 556 N/A INTRINSIC
coiled coil region 580 715 N/A INTRINSIC
SH3 721 778 2.65e-21 SMART
low complexity region 791 811 N/A INTRINSIC
SH3 855 909 8.83e-18 SMART
SH3 945 999 9.1e-20 SMART
SH3 1017 1077 1.55e-13 SMART
SH3 1091 1146 7.22e-23 SMART
RhoGEF 1174 1355 1.93e-56 SMART
PH 1396 1507 1.16e-9 SMART
C2 1531 1628 3.96e-19 SMART
Predicted Effect unknown
Transcript: ENSMUST00000217672
AA Change: K147R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218352
Predicted Effect possibly damaging
Transcript: ENSMUST00000219007
AA Change: K589R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000220311
AA Change: K589R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal brain morphology and function and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,419,781 (GRCm39) E275G probably damaging Het
Adam10 T A 9: 70,653,574 (GRCm39) I123N probably damaging Het
Adam8 A T 7: 139,563,842 (GRCm39) L715Q probably benign Het
Adcyap1r1 T A 6: 55,471,101 (GRCm39) F418L probably damaging Het
Ankrd50 A T 3: 38,508,401 (GRCm39) I1322K probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atxn7 T C 14: 14,095,468 (GRCm38) S389P possibly damaging Het
C4b A T 17: 34,961,946 (GRCm39) L100Q probably benign Het
Cacul1 G A 19: 60,568,846 (GRCm39) A104V probably damaging Het
Camsap3 T C 8: 3,653,866 (GRCm39) F512S probably damaging Het
Casp1 T C 9: 5,299,454 (GRCm39) V61A possibly damaging Het
Cfap251 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,392,673 (GRCm39) probably benign Het
Chd1 T A 17: 15,955,994 (GRCm39) F531Y probably damaging Het
Clec2h C T 6: 128,651,758 (GRCm39) Q156* probably null Het
Clip2 T A 5: 134,521,104 (GRCm39) E978V probably benign Het
Cnpy2 T G 10: 128,159,465 (GRCm39) L34R probably damaging Het
Cog6 A T 3: 52,921,265 (GRCm39) C114S probably benign Het
Col6a3 A T 1: 90,749,736 (GRCm39) V366E possibly damaging Het
Col6a5 A G 9: 105,774,173 (GRCm39) probably null Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Dmbt1 G A 7: 130,676,254 (GRCm39) probably null Het
Dok1 A G 6: 83,009,029 (GRCm39) F218L possibly damaging Het
Dph7 T A 2: 24,856,583 (GRCm39) N178K probably benign Het
Enam A T 5: 88,651,117 (GRCm39) E800D probably damaging Het
Fads3 A T 19: 10,031,463 (GRCm39) Q205L possibly damaging Het
Fbxo44 T C 4: 148,240,433 (GRCm39) H265R probably benign Het
Gli1 T A 10: 127,174,320 (GRCm39) S24C probably damaging Het
Gm4894 T A 9: 49,185,526 (GRCm39) C43* probably null Het
Gpbp1l1 C T 4: 116,431,563 (GRCm39) H74Y possibly damaging Het
H2-Eb2 T A 17: 34,552,331 (GRCm39) F59I possibly damaging Het
Hspa14 T C 2: 3,499,161 (GRCm39) N211S possibly damaging Het
Ifnlr1 T G 4: 135,432,419 (GRCm39) F285C probably benign Het
Igf1r G T 7: 67,814,875 (GRCm39) V259L probably benign Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Ighg2c A T 12: 113,249,572 (GRCm39) probably benign Het
Ighv8-14 A T 12: 115,772,075 (GRCm39) probably null Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Khdc1a A C 1: 21,420,495 (GRCm39) E38D possibly damaging Het
Krt42 T G 11: 100,154,171 (GRCm39) probably null Het
Lpo T C 11: 87,708,143 (GRCm39) N183S possibly damaging Het
Lrrc3 T A 10: 77,736,764 (GRCm39) Y224F probably damaging Het
Ly6g6f T A 17: 35,302,240 (GRCm39) D99V probably damaging Het
Lyplal1 T C 1: 185,846,531 (GRCm39) I42V probably benign Het
Mis18bp1 G A 12: 65,190,057 (GRCm39) Q793* probably null Het
Myh10 T G 11: 68,653,667 (GRCm39) M346R probably damaging Het
Nav1 G T 1: 135,382,943 (GRCm39) H1256Q probably damaging Het
Nbea A G 3: 55,875,744 (GRCm39) V1642A probably benign Het
Or4d6 C T 19: 12,086,853 (GRCm39) R19H probably benign Het
Or8b12i T C 9: 20,082,354 (GRCm39) N171S probably benign Het
Or8i2 A G 2: 86,852,061 (GRCm39) F276L probably damaging Het
Or8k28 A G 2: 86,285,931 (GRCm39) I228T possibly damaging Het
Orm3 G A 4: 63,276,085 (GRCm39) V166M probably damaging Het
Oxct1 T A 15: 4,120,708 (GRCm39) I264N probably damaging Het
Paox G A 7: 139,706,244 (GRCm39) V55I probably benign Het
Pde4d C A 13: 110,087,462 (GRCm39) probably null Het
Pnliprp1 A G 19: 58,723,383 (GRCm39) N258S probably damaging Het
Potegl A G 2: 23,146,994 (GRCm39) K275E possibly damaging Het
Prl7b1 C A 13: 27,790,887 (GRCm39) R66L possibly damaging Het
Ptpre G T 7: 135,269,341 (GRCm39) C261F probably benign Het
Rho C G 6: 115,909,199 (GRCm39) N78K probably damaging Het
Rnf17 A G 14: 56,751,622 (GRCm39) N1487D possibly damaging Het
Ryr3 G A 2: 112,563,359 (GRCm39) T2922I probably benign Het
Saxo2 A C 7: 82,284,379 (GRCm39) F160V possibly damaging Het
Sbf2 A T 7: 109,909,391 (GRCm39) Y1786N probably benign Het
Sdad1 A T 5: 92,446,092 (GRCm39) V280E probably benign Het
Sgsm1 T C 5: 113,427,351 (GRCm39) D90G probably damaging Het
Siglec1 A T 2: 130,916,747 (GRCm39) D1169E probably damaging Het
Sim1 T A 10: 50,857,618 (GRCm39) V456E probably benign Het
Skint8 T A 4: 111,785,710 (GRCm39) I52N possibly damaging Het
Slc27a1 C A 8: 72,033,297 (GRCm39) R280S probably benign Het
Slc9a3 G A 13: 74,298,862 (GRCm39) V94I probably damaging Het
Sorcs2 C A 5: 36,185,269 (GRCm39) V936L possibly damaging Het
Syce1 A G 7: 140,358,120 (GRCm39) F255S probably benign Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem200a T A 10: 25,870,246 (GRCm39) I8F probably damaging Het
Trip6 T C 5: 137,310,182 (GRCm39) H322R probably benign Het
Vmn2r72 A T 7: 85,400,517 (GRCm39) N177K probably benign Het
Other mutations in Itsn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Itsn2 APN 12 4,708,027 (GRCm39) missense possibly damaging 0.95
IGL00647:Itsn2 APN 12 4,663,311 (GRCm39) splice site probably benign
IGL00933:Itsn2 APN 12 4,757,540 (GRCm39) missense probably damaging 1.00
IGL01686:Itsn2 APN 12 4,686,693 (GRCm39) splice site probably benign
IGL01873:Itsn2 APN 12 4,682,366 (GRCm39) splice site probably benign
IGL02200:Itsn2 APN 12 4,686,632 (GRCm39) missense probably damaging 0.98
IGL02280:Itsn2 APN 12 4,758,961 (GRCm39) missense possibly damaging 0.89
IGL02388:Itsn2 APN 12 4,679,557 (GRCm39) missense possibly damaging 0.91
IGL02938:Itsn2 APN 12 4,747,216 (GRCm39) missense probably damaging 0.98
Gopher UTSW 12 4,756,983 (GRCm39) nonsense probably null
inversus UTSW 12 4,689,670 (GRCm39) nonsense probably null
Liberator UTSW 12 4,716,176 (GRCm39) nonsense probably null
rolled UTSW 12 4,684,792 (GRCm39) nonsense probably null
Stratofortress UTSW 12 4,674,927 (GRCm39) missense probably damaging 1.00
Underground UTSW 12 4,751,276 (GRCm39) missense probably damaging 1.00
Vole UTSW 12 4,723,420 (GRCm39) nonsense probably null
R0101:Itsn2 UTSW 12 4,683,058 (GRCm39) unclassified probably benign
R0268:Itsn2 UTSW 12 4,750,333 (GRCm39) missense probably benign 0.12
R0584:Itsn2 UTSW 12 4,747,180 (GRCm39) missense probably benign
R0604:Itsn2 UTSW 12 4,708,189 (GRCm39) missense probably benign 0.01
R0639:Itsn2 UTSW 12 4,762,556 (GRCm39) missense probably damaging 0.99
R0738:Itsn2 UTSW 12 4,685,681 (GRCm39) missense probably benign 0.17
R1132:Itsn2 UTSW 12 4,708,464 (GRCm39) missense probably damaging 1.00
R1163:Itsn2 UTSW 12 4,762,009 (GRCm39) missense probably benign 0.30
R1258:Itsn2 UTSW 12 4,723,464 (GRCm39) missense probably damaging 1.00
R1297:Itsn2 UTSW 12 4,750,378 (GRCm39) missense probably damaging 1.00
R1423:Itsn2 UTSW 12 4,723,572 (GRCm39) missense probably damaging 0.97
R1572:Itsn2 UTSW 12 4,700,044 (GRCm39) missense probably benign 0.03
R1601:Itsn2 UTSW 12 4,708,452 (GRCm39) missense probably benign 0.01
R1628:Itsn2 UTSW 12 4,679,652 (GRCm39) missense probably benign
R1650:Itsn2 UTSW 12 4,687,767 (GRCm39) missense probably damaging 0.97
R1752:Itsn2 UTSW 12 4,761,950 (GRCm39) splice site probably null
R1758:Itsn2 UTSW 12 4,708,160 (GRCm39) missense possibly damaging 0.83
R1942:Itsn2 UTSW 12 4,689,670 (GRCm39) nonsense probably null
R1976:Itsn2 UTSW 12 4,722,733 (GRCm39) splice site probably benign
R2000:Itsn2 UTSW 12 4,716,176 (GRCm39) nonsense probably null
R2060:Itsn2 UTSW 12 4,677,879 (GRCm39) missense probably damaging 1.00
R2119:Itsn2 UTSW 12 4,757,025 (GRCm39) missense probably benign 0.32
R2168:Itsn2 UTSW 12 4,683,044 (GRCm39) unclassified probably benign
R2394:Itsn2 UTSW 12 4,757,005 (GRCm39) missense possibly damaging 0.86
R2860:Itsn2 UTSW 12 4,750,315 (GRCm39) splice site probably benign
R2861:Itsn2 UTSW 12 4,750,315 (GRCm39) splice site probably benign
R2900:Itsn2 UTSW 12 4,680,713 (GRCm39) unclassified probably benign
R2991:Itsn2 UTSW 12 4,708,474 (GRCm39) missense probably benign 0.01
R3087:Itsn2 UTSW 12 4,716,303 (GRCm39) missense probably damaging 1.00
R3881:Itsn2 UTSW 12 4,684,546 (GRCm39) unclassified probably benign
R4022:Itsn2 UTSW 12 4,674,927 (GRCm39) missense probably damaging 1.00
R4332:Itsn2 UTSW 12 4,762,611 (GRCm39) missense possibly damaging 0.72
R4657:Itsn2 UTSW 12 4,763,197 (GRCm39) makesense probably null
R4727:Itsn2 UTSW 12 4,757,660 (GRCm39) missense probably damaging 0.99
R4745:Itsn2 UTSW 12 4,711,944 (GRCm39) missense probably damaging 1.00
R4770:Itsn2 UTSW 12 4,677,892 (GRCm39) missense probably damaging 1.00
R4905:Itsn2 UTSW 12 4,684,583 (GRCm39) unclassified probably benign
R5269:Itsn2 UTSW 12 4,683,553 (GRCm39) unclassified probably benign
R5314:Itsn2 UTSW 12 4,677,960 (GRCm39) missense probably benign 0.09
R5345:Itsn2 UTSW 12 4,722,783 (GRCm39) missense probably damaging 1.00
R5399:Itsn2 UTSW 12 4,703,535 (GRCm39) missense probably benign 0.22
R5566:Itsn2 UTSW 12 4,676,554 (GRCm39) missense probably damaging 1.00
R5725:Itsn2 UTSW 12 4,680,767 (GRCm39) unclassified probably benign
R5773:Itsn2 UTSW 12 4,757,089 (GRCm39) missense probably damaging 1.00
R6116:Itsn2 UTSW 12 4,679,939 (GRCm39) unclassified probably benign
R6254:Itsn2 UTSW 12 4,674,982 (GRCm39) splice site probably null
R6325:Itsn2 UTSW 12 4,756,351 (GRCm39) missense probably damaging 1.00
R6361:Itsn2 UTSW 12 4,679,655 (GRCm39) missense probably benign 0.18
R6456:Itsn2 UTSW 12 4,679,923 (GRCm39) unclassified probably benign
R6494:Itsn2 UTSW 12 4,684,792 (GRCm39) nonsense probably null
R6854:Itsn2 UTSW 12 4,702,382 (GRCm39) missense probably benign 0.37
R6941:Itsn2 UTSW 12 4,679,641 (GRCm39) missense probably benign 0.05
R6961:Itsn2 UTSW 12 4,723,420 (GRCm39) nonsense probably null
R7326:Itsn2 UTSW 12 4,682,985 (GRCm39) missense unknown
R7387:Itsn2 UTSW 12 4,689,781 (GRCm39) missense probably damaging 1.00
R7465:Itsn2 UTSW 12 4,756,983 (GRCm39) nonsense probably null
R7471:Itsn2 UTSW 12 4,758,198 (GRCm39) missense probably benign 0.43
R7814:Itsn2 UTSW 12 4,708,561 (GRCm39) missense probably benign 0.14
R7854:Itsn2 UTSW 12 4,751,276 (GRCm39) missense probably damaging 1.00
R7879:Itsn2 UTSW 12 4,751,265 (GRCm39) missense probably benign 0.16
R7990:Itsn2 UTSW 12 4,685,629 (GRCm39) missense unknown
R8009:Itsn2 UTSW 12 4,714,553 (GRCm39) missense probably benign 0.12
R8115:Itsn2 UTSW 12 4,723,602 (GRCm39) missense possibly damaging 0.90
R8143:Itsn2 UTSW 12 4,683,003 (GRCm39) missense unknown
R8248:Itsn2 UTSW 12 4,712,052 (GRCm39) missense probably benign 0.00
R8735:Itsn2 UTSW 12 4,721,474 (GRCm39) missense probably damaging 1.00
R8748:Itsn2 UTSW 12 4,751,337 (GRCm39) missense probably benign 0.36
R9018:Itsn2 UTSW 12 4,708,091 (GRCm39) missense possibly damaging 0.57
R9386:Itsn2 UTSW 12 4,679,730 (GRCm39) missense unknown
R9681:Itsn2 UTSW 12 4,683,499 (GRCm39) missense unknown
Z1088:Itsn2 UTSW 12 4,762,472 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15