Incidental Mutation 'R1169:Itsn2'
ID |
101537 |
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 |
039242-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1169 (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 4689694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 589
(K589R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062580
AA Change: K589R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: K589R
Domain | Start | End | E-Value | Type |
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: K147R
|
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 |
possibly damaging
Transcript: ENSMUST00000219007
AA Change: K589R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220311
AA Change: K589R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
T |
C |
10: 80,419,781 (GRCm39) |
E275G |
probably damaging |
Het |
Adam10 |
T |
A |
9: 70,653,574 (GRCm39) |
I123N |
probably damaging |
Het |
Adam8 |
A |
T |
7: 139,563,842 (GRCm39) |
L715Q |
probably benign |
Het |
Adcyap1r1 |
T |
A |
6: 55,471,101 (GRCm39) |
F418L |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,508,401 (GRCm39) |
I1322K |
probably damaging |
Het |
Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,095,468 (GRCm38) |
S389P |
possibly damaging |
Het |
C4b |
A |
T |
17: 34,961,946 (GRCm39) |
L100Q |
probably benign |
Het |
Cacul1 |
G |
A |
19: 60,568,846 (GRCm39) |
A104V |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,866 (GRCm39) |
F512S |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,299,454 (GRCm39) |
V61A |
possibly damaging |
Het |
Cfap251 |
GGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGA |
5: 123,392,673 (GRCm39) |
|
probably benign |
Het |
Chd1 |
T |
A |
17: 15,955,994 (GRCm39) |
F531Y |
probably damaging |
Het |
Clec2h |
C |
T |
6: 128,651,758 (GRCm39) |
Q156* |
probably null |
Het |
Clip2 |
T |
A |
5: 134,521,104 (GRCm39) |
E978V |
probably benign |
Het |
Cnpy2 |
T |
G |
10: 128,159,465 (GRCm39) |
L34R |
probably damaging |
Het |
Cog6 |
A |
T |
3: 52,921,265 (GRCm39) |
C114S |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,749,736 (GRCm39) |
V366E |
possibly damaging |
Het |
Col6a5 |
A |
G |
9: 105,774,173 (GRCm39) |
|
probably null |
Het |
Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
Dmbt1 |
G |
A |
7: 130,676,254 (GRCm39) |
|
probably null |
Het |
Dok1 |
A |
G |
6: 83,009,029 (GRCm39) |
F218L |
possibly damaging |
Het |
Dph7 |
T |
A |
2: 24,856,583 (GRCm39) |
N178K |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,117 (GRCm39) |
E800D |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,031,463 (GRCm39) |
Q205L |
possibly damaging |
Het |
Fbxo44 |
T |
C |
4: 148,240,433 (GRCm39) |
H265R |
probably benign |
Het |
Gli1 |
T |
A |
10: 127,174,320 (GRCm39) |
S24C |
probably damaging |
Het |
Gm4894 |
T |
A |
9: 49,185,526 (GRCm39) |
C43* |
probably null |
Het |
Gpbp1l1 |
C |
T |
4: 116,431,563 (GRCm39) |
H74Y |
possibly damaging |
Het |
H2-Eb2 |
T |
A |
17: 34,552,331 (GRCm39) |
F59I |
possibly damaging |
Het |
Hspa14 |
T |
C |
2: 3,499,161 (GRCm39) |
N211S |
possibly damaging |
Het |
Ifnlr1 |
T |
G |
4: 135,432,419 (GRCm39) |
F285C |
probably benign |
Het |
Igf1r |
G |
T |
7: 67,814,875 (GRCm39) |
V259L |
probably benign |
Het |
Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
Ighg2c |
A |
T |
12: 113,249,572 (GRCm39) |
|
probably benign |
Het |
Ighv8-14 |
A |
T |
12: 115,772,075 (GRCm39) |
|
probably null |
Het |
Iqsec2 |
A |
G |
X: 150,927,727 (GRCm39) |
S87G |
probably benign |
Het |
Khdc1a |
A |
C |
1: 21,420,495 (GRCm39) |
E38D |
possibly damaging |
Het |
Krt42 |
T |
G |
11: 100,154,171 (GRCm39) |
|
probably null |
Het |
Lpo |
T |
C |
11: 87,708,143 (GRCm39) |
N183S |
possibly damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,764 (GRCm39) |
Y224F |
probably damaging |
Het |
Ly6g6f |
T |
A |
17: 35,302,240 (GRCm39) |
D99V |
probably damaging |
Het |
Lyplal1 |
T |
C |
1: 185,846,531 (GRCm39) |
I42V |
probably benign |
Het |
Mis18bp1 |
G |
A |
12: 65,190,057 (GRCm39) |
Q793* |
probably null |
Het |
Myh10 |
T |
G |
11: 68,653,667 (GRCm39) |
M346R |
probably damaging |
Het |
Nav1 |
G |
T |
1: 135,382,943 (GRCm39) |
H1256Q |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,875,744 (GRCm39) |
V1642A |
probably benign |
Het |
Or4d6 |
C |
T |
19: 12,086,853 (GRCm39) |
R19H |
probably benign |
Het |
Or8b12i |
T |
C |
9: 20,082,354 (GRCm39) |
N171S |
probably benign |
Het |
Or8i2 |
A |
G |
2: 86,852,061 (GRCm39) |
F276L |
probably damaging |
Het |
Or8k28 |
A |
G |
2: 86,285,931 (GRCm39) |
I228T |
possibly damaging |
Het |
Orm3 |
G |
A |
4: 63,276,085 (GRCm39) |
V166M |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,120,708 (GRCm39) |
I264N |
probably damaging |
Het |
Paox |
G |
A |
7: 139,706,244 (GRCm39) |
V55I |
probably benign |
Het |
Pde4d |
C |
A |
13: 110,087,462 (GRCm39) |
|
probably null |
Het |
Pnliprp1 |
A |
G |
19: 58,723,383 (GRCm39) |
N258S |
probably damaging |
Het |
Potegl |
A |
G |
2: 23,146,994 (GRCm39) |
K275E |
possibly damaging |
Het |
Prl7b1 |
C |
A |
13: 27,790,887 (GRCm39) |
R66L |
possibly damaging |
Het |
Ptpre |
G |
T |
7: 135,269,341 (GRCm39) |
C261F |
probably benign |
Het |
Rho |
C |
G |
6: 115,909,199 (GRCm39) |
N78K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,751,622 (GRCm39) |
N1487D |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,563,359 (GRCm39) |
T2922I |
probably benign |
Het |
Saxo2 |
A |
C |
7: 82,284,379 (GRCm39) |
F160V |
possibly damaging |
Het |
Sbf2 |
A |
T |
7: 109,909,391 (GRCm39) |
Y1786N |
probably benign |
Het |
Sdad1 |
A |
T |
5: 92,446,092 (GRCm39) |
V280E |
probably benign |
Het |
Sgsm1 |
T |
C |
5: 113,427,351 (GRCm39) |
D90G |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,916,747 (GRCm39) |
D1169E |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,857,618 (GRCm39) |
V456E |
probably benign |
Het |
Skint8 |
T |
A |
4: 111,785,710 (GRCm39) |
I52N |
possibly damaging |
Het |
Slc27a1 |
C |
A |
8: 72,033,297 (GRCm39) |
R280S |
probably benign |
Het |
Slc9a3 |
G |
A |
13: 74,298,862 (GRCm39) |
V94I |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,185,269 (GRCm39) |
V936L |
possibly damaging |
Het |
Syce1 |
A |
G |
7: 140,358,120 (GRCm39) |
F255S |
probably benign |
Het |
Tmc7 |
G |
A |
7: 118,150,483 (GRCm39) |
S350L |
probably benign |
Het |
Tmem200a |
T |
A |
10: 25,870,246 (GRCm39) |
I8F |
probably damaging |
Het |
Trip6 |
T |
C |
5: 137,310,182 (GRCm39) |
H322R |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,400,517 (GRCm39) |
N177K |
probably benign |
Het |
|
Other mutations in Itsn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |