Incidental Mutation 'R2991:Itsn2'
ID 257913
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2991 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4642792-4763952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4708474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 843 (V843A)
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 benign
Transcript: ENSMUST00000062580
AA Change: V816A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: V816A

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: V374A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218352
Predicted Effect probably benign
Transcript: ENSMUST00000219007
AA Change: V816A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000220311
AA Change: V843A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,832,690 (GRCm39) T282S probably benign Het
Asic2 C A 11: 81,858,863 (GRCm39) V50L probably benign Het
Cdadc1 T C 14: 59,823,521 (GRCm39) M324V possibly damaging Het
Cdcp3 A T 7: 130,848,429 (GRCm39) D861V probably damaging Het
Col12a1 A T 9: 79,607,547 (GRCm39) V427D probably damaging Het
Col3a1 C A 1: 45,374,939 (GRCm39) probably benign Het
Esp24 A T 17: 39,350,894 (GRCm39) E31D possibly damaging Het
Igkv14-100 T A 6: 68,496,335 (GRCm39) L76* probably null Het
Llgl2 T C 11: 115,741,946 (GRCm39) S663P probably benign Het
Lsg1 T C 16: 30,380,547 (GRCm39) N630S probably damaging Het
Lypd8l C T 11: 58,501,516 (GRCm39) V156I possibly damaging Het
Msh4 A G 3: 153,611,497 (GRCm39) V42A probably benign Het
Nkx6-1 T C 5: 101,807,401 (GRCm39) Y327C probably damaging Het
Or9i1b G A 19: 13,896,675 (GRCm39) C97Y probably damaging Het
Pde4a T C 9: 21,114,539 (GRCm39) S369P probably damaging Het
Pkdrej T C 15: 85,704,137 (GRCm39) I600V probably benign Het
Plekhg6 T C 6: 125,347,432 (GRCm39) E479G probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rgmb A T 17: 16,041,352 (GRCm39) D78E probably damaging Het
Samd12 C T 15: 53,723,592 (GRCm39) E34K probably damaging Het
Slc22a21 T G 11: 53,850,195 (GRCm39) E220A probably damaging Het
Smc6 A G 12: 11,339,982 (GRCm39) E430G probably damaging Het
Snx15 C A 19: 6,171,515 (GRCm39) L186F probably damaging Het
Tiam2 A G 17: 3,568,525 (GRCm39) E1557G probably benign Het
Vwa8 A T 14: 79,232,589 (GRCm39) T644S probably benign Het
Zcchc4 T A 5: 52,961,780 (GRCm39) F247Y probably damaging Het
Zmynd11 A G 13: 9,745,858 (GRCm39) V165A 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
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'- GCTGGCACTTCCAACATTTC -3'
(R):5'- AGAAATCAGGTTTCAGTTGCAC -3'

Sequencing Primer
(F):5'- GCTGGCACTTCCAACATTTCAATAC -3'
(R):5'- ATCAGGTTTCAGTTGCACATCAC -3'
Posted On 2015-01-11