Incidental Mutation 'R1163:Itsn2'
ID 100673
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 039236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1163 (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 4762009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1540 (T1540A)
Ref Sequence ENSEMBL: ENSMUSP00000151900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000111154] [ENSMUST00000219007] [ENSMUST00000220311] [ENSMUST00000222363] [ENSMUST00000220978]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062580
AA Change: T1540A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: T1540A

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 probably benign
Transcript: ENSMUST00000111154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218211
Predicted Effect probably benign
Transcript: ENSMUST00000219007
AA Change: T1540A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Predicted Effect probably benign
Transcript: ENSMUST00000220311
AA Change: T1567A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222363
Predicted Effect probably benign
Transcript: ENSMUST00000220978
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 86,957,284 (GRCm39) Y7N probably damaging Het
4930579F01Rik T G 3: 137,882,271 (GRCm39) D18A probably damaging Het
Abca8a T C 11: 109,962,356 (GRCm39) D499G probably benign Het
Adamts1 G C 16: 85,599,525 (GRCm39) A25G probably benign Het
Adamts2 A T 11: 50,670,541 (GRCm39) I552F probably damaging Het
Akap3 A G 6: 126,841,750 (GRCm39) D123G probably damaging Het
Ankar C T 1: 72,727,864 (GRCm39) V350I possibly damaging Het
Apob A G 12: 8,061,654 (GRCm39) T3379A probably damaging Het
Ash1l G T 3: 88,942,570 (GRCm39) probably null Het
Atp2b1 T C 10: 98,815,713 (GRCm39) I119T possibly damaging Het
B3gnt2 A T 11: 22,786,558 (GRCm39) M210K probably benign Het
Bcl11a A G 11: 24,115,143 (GRCm39) N829D probably benign Het
Btnl4 T C 17: 34,689,049 (GRCm39) E337G possibly damaging Het
Casr A T 16: 36,315,169 (GRCm39) V967D probably damaging Het
Cd200 A T 16: 45,212,715 (GRCm39) V244D probably damaging Het
Cd200r4 A G 16: 44,658,383 (GRCm39) N256D probably benign Het
Cep68 A G 11: 20,190,539 (GRCm39) S158P probably damaging Het
Chst10 A T 1: 38,910,783 (GRCm39) V123D probably damaging Het
Cobll1 T C 2: 64,928,623 (GRCm39) H938R probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dmkn T G 7: 30,464,476 (GRCm39) C205G probably damaging Het
Dock8 A G 19: 25,028,867 (GRCm39) I24V probably benign Het
Dpp3 C T 19: 4,964,951 (GRCm39) W488* probably null Het
Dpp9 C A 17: 56,506,426 (GRCm39) A365S possibly damaging Het
Egfr A T 11: 16,833,546 (GRCm39) T605S probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83g T C 11: 61,594,262 (GRCm39) S599P probably damaging Het
Fscn1 G T 5: 142,946,598 (GRCm39) W132L probably damaging Het
Gbp2b A G 3: 142,304,857 (GRCm39) T98A probably damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Golgb1 G T 16: 36,736,488 (GRCm39) V1912L possibly damaging Het
Gon4l T C 3: 88,799,842 (GRCm39) L829P probably damaging Het
Grm3 T A 5: 9,620,738 (GRCm39) I169L probably benign Het
Gsdma2 A G 11: 98,541,684 (GRCm39) D137G probably damaging Het
Hhip T C 8: 80,719,105 (GRCm39) Y474C probably damaging Het
Hsph1 A T 5: 149,554,266 (GRCm39) V163E probably damaging Het
Ifi203 T C 1: 173,751,703 (GRCm39) K373E probably damaging Het
Kdm1b T C 13: 47,225,398 (GRCm39) V527A probably benign Het
Kdm5d G A Y: 898,029 (GRCm39) A22T probably benign Het
Khdrbs1 A T 4: 129,619,379 (GRCm39) F254Y possibly damaging Het
Kif26a T C 12: 112,146,379 (GRCm39) F1822L probably benign Het
Krt1 C A 15: 101,756,600 (GRCm39) E308* probably null Het
Lrrc47 T A 4: 154,096,274 (GRCm39) M1K probably null Het
Mrgpra4 A T 7: 47,631,224 (GRCm39) W126R probably damaging Het
Nlrp4e G A 7: 23,020,397 (GRCm39) V295I probably benign Het
Or1l4b A T 2: 37,037,039 (GRCm39) T272S probably damaging Het
Or2f1 G A 6: 42,721,057 (GRCm39) V29I probably benign Het
Or4c10 G T 2: 89,760,449 (GRCm39) V99F possibly damaging Het
Or5ac19 A G 16: 59,089,518 (GRCm39) S171P probably benign Het
Or5ac24 A T 16: 59,165,425 (GRCm39) I213N probably damaging Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Or6c66 A G 10: 129,461,516 (GRCm39) V138A possibly damaging Het
Or8h10 A G 2: 86,809,020 (GRCm39) L40P probably damaging Het
Or8k41 A T 2: 86,313,582 (GRCm39) F168Y probably damaging Het
Plec G T 15: 76,068,038 (GRCm39) N1190K possibly damaging Het
Plin1 T C 7: 79,379,719 (GRCm39) T44A probably damaging Het
Pou3f2 TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 4: 22,487,697 (GRCm39) probably benign Het
Pramel22 A G 4: 143,383,204 (GRCm39) L5P probably damaging Het
Psg27 A G 7: 18,299,234 (GRCm39) L29P probably damaging Het
Psmd13 C A 7: 140,477,367 (GRCm39) T292N probably damaging Het
Rab1b A T 19: 5,154,684 (GRCm39) Y88* probably null Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rmdn2 A T 17: 79,966,880 (GRCm39) M257L probably benign Het
Rnd1 A T 15: 98,574,435 (GRCm39) F47L probably damaging Het
Rnf41 G A 10: 128,274,076 (GRCm39) V243I probably benign Het
Rnf43 C G 11: 87,620,339 (GRCm39) S226R probably damaging Het
Scn5a A T 9: 119,362,993 (GRCm39) D542E probably damaging Het
Sema5b A T 16: 35,448,466 (GRCm39) I81F probably benign Het
Serinc5 G A 13: 92,819,285 (GRCm39) C73Y probably damaging Het
Serpina3g A T 12: 104,205,551 (GRCm39) N97Y possibly damaging Het
Shq1 A G 6: 100,614,033 (GRCm39) S262P probably damaging Het
Smad4 A T 18: 73,781,978 (GRCm39) I428N probably damaging Het
Snip1 G T 4: 124,966,613 (GRCm39) G348W probably damaging Het
Spg11 A G 2: 121,901,422 (GRCm39) L1506P probably damaging Het
Stard9 G A 2: 120,526,694 (GRCm39) V984I possibly damaging Het
Svopl A T 6: 38,006,635 (GRCm39) F121I possibly damaging Het
Tjp1 A T 7: 64,972,802 (GRCm39) V546E probably damaging Het
Tmem116 T A 5: 121,631,819 (GRCm39) F110L probably damaging Het
Ttyh2 C T 11: 114,601,714 (GRCm39) T446M probably benign Het
Tubb1 A T 2: 174,299,532 (GRCm39) I405L probably benign Het
Uba5 A T 9: 103,933,025 (GRCm39) F155L possibly damaging Het
Ubd C T 17: 37,506,212 (GRCm39) H33Y probably damaging Het
Ube3d A T 9: 86,322,648 (GRCm39) D175E probably benign Het
Usp24 A G 4: 106,278,157 (GRCm39) Q2293R probably benign Het
Vmn1r175 T A 7: 23,507,937 (GRCm39) H230L probably benign Het
Vmn1r88 A G 7: 12,912,060 (GRCm39) I139V probably benign Het
Vmn2r1 T C 3: 63,994,046 (GRCm39) F131L probably benign Het
Yipf3 T C 17: 46,562,155 (GRCm39) probably null Het
Zdhhc19 A G 16: 32,325,258 (GRCm39) K192R probably benign Het
Zfy1 G A Y: 725,611 (GRCm39) T718I probably damaging 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
R1169:Itsn2 UTSW 12 4,689,694 (GRCm39) missense probably damaging 1.00
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