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)
|
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
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |