Incidental Mutation 'R3881:Itsn2'
ID 308780
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 040795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3881 (G1)
Quality Score 207
Status Not validated
Chromosome 12
Chromosomal Location 4642792-4763952 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 4684546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000220311] [ENSMUST00000219007] [ENSMUST00000218402]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000062580
AA Change: D366N
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: D366N

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: ENSMUST00000217672
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 unknown
Transcript: ENSMUST00000220311
AA Change: D366N
Predicted Effect unknown
Transcript: ENSMUST00000219007
AA Change: D366N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Predicted Effect probably benign
Transcript: ENSMUST00000218402
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010003K11Rik T G 19: 4,548,417 (GRCm39) K44T possibly damaging Het
4933402N03Rik T C 7: 130,740,823 (GRCm39) E131G probably benign Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Cep41 A G 6: 30,658,397 (GRCm39) S201P probably damaging Het
Cep95 A G 11: 106,697,118 (GRCm39) I257V probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cyfip2 A G 11: 46,099,162 (GRCm39) L716P probably damaging Het
Cyp2d34 T A 15: 82,502,818 (GRCm39) Q136L probably benign Het
Def6 T C 17: 28,439,189 (GRCm39) C267R probably damaging Het
Dgat2 G A 7: 98,818,950 (GRCm39) Q69* probably null Het
Dlgap1 T A 17: 71,093,810 (GRCm39) S710R probably damaging Het
Dnah10 T C 5: 124,850,095 (GRCm39) I1539T probably benign Het
Dnah2 T A 11: 69,342,173 (GRCm39) I2932F possibly damaging Het
Enpp2 A G 15: 54,783,088 (GRCm39) S76P probably damaging Het
Esr2 T C 12: 76,214,394 (GRCm39) D19G probably damaging Het
Fam13b A T 18: 34,595,112 (GRCm39) probably null Het
Fbxw14 A T 9: 109,100,262 (GRCm39) V464D possibly damaging Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Gm21961 A G 15: 64,886,716 (GRCm39) probably null Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Ints4 A G 7: 97,165,464 (GRCm39) T517A possibly damaging Het
Itpr3 A G 17: 27,332,814 (GRCm39) N1860S probably benign Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Letm2 C A 8: 26,083,884 (GRCm39) E116* probably null Het
Ly6c1 T C 15: 74,917,436 (GRCm39) T71A probably benign Het
Mcm3ap G A 10: 76,342,280 (GRCm39) S1591N probably benign Het
Mier2 C T 10: 79,384,584 (GRCm39) probably null Het
Mocs2 T A 13: 114,955,882 (GRCm39) L10* probably null Het
Myo6 A G 9: 80,171,538 (GRCm39) D513G probably damaging Het
Myoz2 T C 3: 122,807,369 (GRCm39) Y147C probably damaging Het
Nin C T 12: 70,089,315 (GRCm39) V1367M probably benign Het
Nr2f6 C T 8: 71,828,675 (GRCm39) A200T probably damaging Het
Obscn C T 11: 58,947,775 (GRCm39) C4418Y probably damaging Het
Or10ak9 A G 4: 118,726,550 (GRCm39) M191V probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or5g26 T A 2: 85,494,769 (GRCm39) H3L probably benign Het
Paxip1 C T 5: 27,953,837 (GRCm39) R953Q probably damaging Het
Pcdha1 A T 18: 37,064,454 (GRCm39) I373F possibly damaging Het
Pcdha7 G A 18: 37,108,432 (GRCm39) E486K probably benign Het
Recql5 G A 11: 115,784,780 (GRCm39) P849L probably benign Het
Recql5 G T 11: 115,784,781 (GRCm39) P849T probably benign Het
Rnf180 A T 13: 105,386,915 (GRCm39) M131K possibly damaging Het
Rplp1 A G 9: 61,821,704 (GRCm39) S3P probably benign Het
Rpp38 T A 2: 3,330,283 (GRCm39) R206S probably benign Het
Sdha G T 13: 74,487,311 (GRCm39) P159Q probably damaging Het
Shank2 T C 7: 143,959,121 (GRCm39) V199A probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Timm50 C A 7: 28,010,432 (GRCm39) A41S probably benign Het
Tmbim1 A G 1: 74,329,157 (GRCm39) probably benign Het
Tmprss11a C T 5: 86,593,664 (GRCm39) V29M possibly damaging Het
Ttc28 A T 5: 111,331,106 (GRCm39) H411L probably damaging Het
Ube4b A T 4: 149,449,861 (GRCm39) probably null Het
Zdhhc22 T A 12: 87,030,400 (GRCm39) M183L probably benign Het
Zfp106 A G 2: 120,362,630 (GRCm39) S830P 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
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
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 PCR Primer
(F):5'- TTGAACTAGATGAGAGGCTCTG -3'
(R):5'- AGCGTTTCTCCAACTCCAGC -3'

Sequencing Primer
(F):5'- AGAGAAAGCATAGTCTCTCTCTCTC -3'
(R):5'- CTCCAACTCCAGCTGCTTC -3'
Posted On 2015-04-17