Incidental Mutation 'R1628:Itsn2'
ID 172632
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 039665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1628 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4642792-4763952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4679652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 154 (M154L)
Ref Sequence ENSEMBL: ENSMUSP00000151663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000218402] [ENSMUST00000219007] [ENSMUST00000220311]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000062580
AA Change: M154L
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: M154L

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 noncoding transcript
Transcript: ENSMUST00000217882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218072
Predicted Effect probably benign
Transcript: ENSMUST00000218402
AA Change: M154L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000219007
AA Change: M154L
Predicted Effect unknown
Transcript: ENSMUST00000220311
AA Change: M154L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Meta Mutation Damage Score 0.0573 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 99% (75/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 84,999,419 (GRCm39) Q172* probably null Het
AI467606 G A 7: 126,691,755 (GRCm39) G110D probably benign Het
Arhgef15 A C 11: 68,835,640 (GRCm39) L805R possibly damaging Het
B3galnt1 G A 3: 69,482,961 (GRCm39) T100I probably damaging Het
Bod1l T A 5: 41,974,325 (GRCm39) M2330L probably benign Het
Calcr A T 6: 3,700,251 (GRCm39) H280Q possibly damaging Het
Camk1d T C 2: 5,315,848 (GRCm39) D263G probably damaging Het
Cd48 T A 1: 171,532,420 (GRCm39) I233N probably damaging Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dapk3 C A 10: 81,027,643 (GRCm39) T227K possibly damaging Het
Dnajc22 A G 15: 98,998,817 (GRCm39) M1V probably null Het
Etv5 C T 16: 22,220,421 (GRCm39) probably null Het
Gabrr1 A G 4: 33,152,432 (GRCm39) Y124C probably damaging Het
Gba2 C T 4: 43,570,118 (GRCm39) R392Q probably benign Het
Gli3 C G 13: 15,900,897 (GRCm39) A1428G probably benign Het
Gls G A 1: 52,271,835 (GRCm39) A106V probably benign Het
Gm21370 A G 13: 120,488,414 (GRCm39) V45A possibly damaging Het
Gpr4 A G 7: 18,957,124 (GRCm39) T349A probably benign Het
Gpr6 C T 10: 40,947,544 (GRCm39) V13M possibly damaging Het
Gvin3 A T 7: 106,202,476 (GRCm39) L256* probably null Het
Hectd3 A G 4: 116,854,589 (GRCm39) H345R probably damaging Het
Igfl3 A T 7: 17,914,232 (GRCm39) K135N probably benign Het
Il23r A G 6: 67,400,593 (GRCm39) L579S probably damaging Het
Junb T A 8: 85,705,039 (GRCm39) Q7L possibly damaging Het
Kif21b T A 1: 136,098,958 (GRCm39) H1415Q probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc10 T G 6: 30,444,461 (GRCm39) F79L probably damaging Het
Klk1b8 A G 7: 43,603,565 (GRCm39) probably null Het
Lmbrd2 T A 15: 9,182,593 (GRCm39) N509K probably damaging Het
Mctp2 A G 7: 71,861,337 (GRCm39) probably null Het
Myo3b A G 2: 70,117,306 (GRCm39) N913S probably benign Het
N4bp2 G A 5: 65,960,915 (GRCm39) probably null Het
Nt5c1a A G 4: 123,102,284 (GRCm39) E70G possibly damaging Het
Or12k5 A G 2: 36,894,738 (GRCm39) V296A probably damaging Het
Papln A G 12: 83,831,180 (GRCm39) probably benign Het
Pcnx3 G T 19: 5,736,093 (GRCm39) S244R probably damaging Het
Pecam1 A T 11: 106,573,786 (GRCm39) probably null Het
Plppr4 A T 3: 117,121,921 (GRCm39) L219Q probably damaging Het
Ppp2r5b A G 19: 6,280,935 (GRCm39) probably null Het
Ralgapb A G 2: 158,272,383 (GRCm39) R146G probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rfpl4b T G 10: 38,697,530 (GRCm39) I24L probably benign Het
Serpinb1b G A 13: 33,277,637 (GRCm39) C290Y probably benign Het
Skic3 A G 13: 76,259,910 (GRCm39) E70G possibly damaging Het
Slc25a17 A G 15: 81,244,925 (GRCm39) S3P possibly damaging Het
Slc4a11 A C 2: 130,529,047 (GRCm39) probably null Het
Spata31e4 T C 13: 50,856,324 (GRCm39) L654P probably benign Het
Sptb A G 12: 76,630,622 (GRCm39) Y2231H probably damaging Het
Srgap1 T G 10: 121,706,244 (GRCm39) M221L probably benign Het
Srgap3 A G 6: 112,716,331 (GRCm39) L599P probably damaging Het
Svep1 C T 4: 58,107,561 (GRCm39) V1177M probably benign Het
Tarbp1 A G 8: 127,157,599 (GRCm39) F1303L possibly damaging Het
Tbxa2r T C 10: 81,170,341 (GRCm39) S276P possibly damaging Het
Try10 A T 6: 41,334,390 (GRCm39) D194V probably damaging Het
Ttc39c T C 18: 12,867,936 (GRCm39) probably benign Het
Ttc8 G A 12: 98,948,780 (GRCm39) V489M probably benign Het
Unc13b G T 4: 43,263,371 (GRCm39) R1912L probably damaging Het
Unc45b T A 11: 82,820,206 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,048 (GRCm39) Y292C probably damaging Het
Usp34 A G 11: 23,438,725 (GRCm39) D3429G probably damaging Het
Usp42 A G 5: 143,703,122 (GRCm39) S500P probably damaging Het
Vmn2r14 T C 5: 109,367,838 (GRCm39) M385V probably benign Het
Vmn2r60 G A 7: 41,785,830 (GRCm39) W211* probably null Het
Vwf A T 6: 125,624,701 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,918 (GRCm39) F3018I probably damaging Het
Wwox A G 8: 115,174,973 (GRCm39) T102A probably benign Het
Zfp142 A C 1: 74,611,047 (GRCm39) L813R possibly damaging Het
Zfp407 G A 18: 84,372,658 (GRCm39) T1670M probably damaging Het
Zfp93 A G 7: 23,974,282 (GRCm39) E89G probably benign Het
Zwint C T 10: 72,492,127 (GRCm39) Q18* probably null 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
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 PCR Primer
(F):5'- ACTTCAGATGCAGGGCTGCTTTATG -3'
(R):5'- TCAGAGACTGGGCCTTCTGGATAC -3'

Sequencing Primer
(F):5'- GGGTGCTTTTTATACTGTAGCTTG -3'
(R):5'- TCATCAGGCTGTAAGATGATGC -3'
Posted On 2014-04-24