Incidental Mutation 'R4745:Itsn2'
ID 356672
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 042028-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4745 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4642792-4763952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4711944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 904 (D904G)
Ref Sequence ENSEMBL: ENSMUSP00000151896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000219007] [ENSMUST00000220311]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062580
AA Change: D877G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: D877G

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: D435G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218985
Predicted Effect probably damaging
Transcript: ENSMUST00000219007
AA Change: D877G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Predicted Effect probably damaging
Transcript: ENSMUST00000220311
AA Change: D904G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,526,427 (GRCm39) Y619C probably damaging Het
Adck1 A G 12: 88,368,949 (GRCm39) probably null Het
Agap3 A C 5: 24,656,123 (GRCm39) probably null Het
Ankib1 A T 5: 3,782,566 (GRCm39) H354Q probably damaging Het
Ankrd29 T G 18: 12,387,679 (GRCm39) N301T probably benign Het
Arhgef4 A G 1: 34,846,356 (GRCm39) T379A probably damaging Het
Arid1a A G 4: 133,480,417 (GRCm39) V169A probably benign Het
Bag2 T C 1: 33,787,417 (GRCm39) probably null Het
Bmt2 A C 6: 13,628,686 (GRCm39) Y332* probably null Het
Bpifb1 A T 2: 154,053,501 (GRCm39) K248* probably null Het
Caap1 C A 4: 94,444,751 (GRCm39) probably null Het
Calcr T A 6: 3,692,576 (GRCm39) Y389F probably damaging Het
Capn1 C T 19: 6,043,946 (GRCm39) V562I probably benign Het
Ccr1 T A 9: 123,763,985 (GRCm39) T182S probably benign Het
Ceacam15 T C 7: 16,407,259 (GRCm39) D86G probably benign Het
Cldnd1 C T 16: 58,550,006 (GRCm39) T63I probably benign Het
Col12a1 A T 9: 79,559,368 (GRCm39) probably null Het
Cystm1 A G 18: 36,526,348 (GRCm39) probably benign Het
Ddx55 T A 5: 124,705,028 (GRCm39) Y428* probably null Het
Ensa G A 3: 95,538,745 (GRCm39) G118D probably benign Het
Folh1 A T 7: 86,372,482 (GRCm39) probably null Het
Foxj2 C A 6: 122,814,948 (GRCm39) P328Q probably damaging Het
Fscn3 A G 6: 28,435,627 (GRCm39) I417V probably damaging Het
Galnt7 T C 8: 57,995,761 (GRCm39) probably benign Het
Gm11563 T A 11: 99,549,246 (GRCm39) *169C probably null Het
Hfm1 A T 5: 107,049,709 (GRCm39) D417E possibly damaging Het
Ighv15-2 A G 12: 114,528,230 (GRCm39) S107P probably damaging Het
Kif1b A T 4: 149,322,339 (GRCm39) L860* probably null Het
Krt79 T C 15: 101,839,119 (GRCm39) E450G probably damaging Het
Lama1 T C 17: 68,045,775 (GRCm39) S227P probably damaging Het
Lamp5 C A 2: 135,902,786 (GRCm39) H168Q probably benign Het
Lilra5 A T 7: 4,245,076 (GRCm39) Q240L possibly damaging Het
Lrp1 A T 10: 127,385,813 (GRCm39) C3521S probably benign Het
Mroh1 T A 15: 76,292,730 (GRCm39) probably null Het
Nlrp4g A T 9: 124,349,515 (GRCm38) noncoding transcript Het
Nr2f6 A T 8: 71,831,179 (GRCm39) I70N probably benign Het
Nr4a2 T A 2: 57,000,163 (GRCm39) D311V probably damaging Het
Odad2 G A 18: 7,286,763 (GRCm39) T156M probably benign Het
Or10w1 T A 19: 13,632,750 (GRCm39) M319K probably benign Het
Or10x4 T C 1: 174,219,442 (GRCm39) L269P probably damaging Het
Or52n20 T A 7: 104,320,711 (GRCm39) F267L probably damaging Het
Pcdhb6 C A 18: 37,468,426 (GRCm39) A449D possibly damaging Het
Pcgf6 A G 19: 47,036,545 (GRCm39) probably null Het
Prc1 C A 7: 79,962,911 (GRCm39) H131Q probably benign Het
Ptprq C A 10: 107,360,114 (GRCm39) R2187L probably damaging Het
Rasl2-9 C A 7: 5,128,702 (GRCm39) R76L possibly damaging Het
Rdh16f1 A T 10: 127,626,685 (GRCm39) Y246F probably benign Het
Rit1 T C 3: 88,624,982 (GRCm39) probably benign Het
Sash1 A G 10: 8,605,672 (GRCm39) V906A probably benign Het
Scnn1b T C 7: 121,501,509 (GRCm39) V108A probably benign Het
Sema4f A T 6: 82,895,265 (GRCm39) I356N probably damaging Het
Shc4 A T 2: 125,491,197 (GRCm39) L447Q probably damaging Het
Slc24a1 T C 9: 64,856,758 (GRCm39) M50V unknown Het
Slc28a3 T A 13: 58,722,077 (GRCm39) D269V possibly damaging Het
Slc35e1 A G 8: 73,246,166 (GRCm39) S89P possibly damaging Het
Smpd5 T A 15: 76,179,008 (GRCm39) H125Q probably benign Het
Snapc2 A G 8: 4,304,578 (GRCm39) T31A probably damaging Het
Sox5 G C 6: 143,779,214 (GRCm39) H606D possibly damaging Het
Spag6 A G 2: 18,742,107 (GRCm39) T367A possibly damaging Het
Spag8 T C 4: 43,651,636 (GRCm39) T413A probably damaging Het
Sptlc3 G A 2: 139,389,087 (GRCm39) G156R probably damaging Het
Stx19 A G 16: 62,642,783 (GRCm39) T200A probably benign Het
Tas2r116 A G 6: 132,832,668 (GRCm39) T90A probably benign Het
Tasor2 G A 13: 3,640,069 (GRCm39) T356I probably benign Het
Tbl3 A G 17: 24,924,304 (GRCm39) probably benign Het
Tekt5 G T 16: 10,213,058 (GRCm39) P76T probably damaging Het
Tjp2 C T 19: 24,074,030 (GRCm39) E1086K possibly damaging Het
Topbp1 T C 9: 103,200,770 (GRCm39) L601P probably damaging Het
Trav16 T A 14: 53,980,934 (GRCm39) M41K possibly damaging Het
Trav6-5 C A 14: 53,728,960 (GRCm39) N72K probably benign Het
Trpm3 C G 19: 22,692,659 (GRCm39) T250S possibly damaging Het
Vps35 A T 8: 85,987,891 (GRCm39) D753E probably benign Het
Vstm2a A T 11: 16,213,061 (GRCm39) N149Y probably damaging Het
Vwa2 G T 19: 56,895,318 (GRCm39) M497I probably benign Het
Zfat C A 15: 68,052,223 (GRCm39) V517L probably benign Het
Zfp169 C A 13: 48,643,708 (GRCm39) R473L possibly damaging Het
Zfp672 T C 11: 58,220,324 (GRCm39) probably benign Het
Zranb1 T C 7: 132,574,443 (GRCm39) V420A 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
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
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
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'- CAGTGCTGTGATGAAGTGGC -3'
(R):5'- GCTCATGTGGTAAGGACACC -3'

Sequencing Primer
(F):5'- AAGGCGACTCACATGGCTG -3'
(R):5'- TGGTAAGGACACCAGCGTC -3'
Posted On 2015-11-11