Incidental Mutation 'R4905:Itsn2'
| ID |
378119 |
| 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)
|
| Stock # |
R4905 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 4684583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000218402]
[ENSMUST00000220311]
[ENSMUST00000219007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062580
AA Change: E378G
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: E378G
| 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 |
probably benign
Transcript: ENSMUST00000218402
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: E378G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: E378G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,448,680 (GRCm39) |
|
probably null |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc5 |
A |
G |
16: 20,218,678 (GRCm39) |
S235P |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,644,649 (GRCm39) |
N842S |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,500,669 (GRCm39) |
V210I |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,576,192 (GRCm39) |
V2130D |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,207 (GRCm39) |
E213G |
probably damaging |
Het |
| Alyref |
T |
G |
11: 120,486,879 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
G |
T |
5: 122,955,973 (GRCm39) |
N152K |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,856,315 (GRCm39) |
D416E |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,508,454 (GRCm39) |
V354E |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,364,162 (GRCm39) |
E844G |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,728,802 (GRCm39) |
R590H |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
| Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,623 (GRCm39) |
S1222P |
probably damaging |
Het |
| Dhfr |
G |
A |
13: 92,502,282 (GRCm39) |
G118S |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,764,950 (GRCm39) |
R1414* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,614,269 (GRCm39) |
D315G |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,119,792 (GRCm39) |
R139G |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,856,408 (GRCm39) |
K2065M |
possibly damaging |
Het |
| Fh1 |
C |
T |
1: 175,446,639 (GRCm39) |
G79E |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,374,304 (GRCm39) |
Y421H |
probably damaging |
Het |
| Glipr1 |
C |
A |
10: 111,821,545 (GRCm39) |
R219L |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,891,369 (GRCm39) |
D360G |
probably benign |
Het |
| Ift81 |
C |
T |
5: 122,729,142 (GRCm39) |
|
probably null |
Het |
| Kri1 |
A |
T |
9: 21,198,998 (GRCm39) |
H55Q |
probably benign |
Het |
| Mcidas |
C |
A |
13: 113,130,951 (GRCm39) |
A92E |
possibly damaging |
Het |
| Mcidas |
C |
T |
13: 113,134,038 (GRCm39) |
T174M |
possibly damaging |
Het |
| Mmp25 |
C |
A |
17: 23,863,022 (GRCm39) |
G130* |
probably null |
Het |
| Myh11 |
G |
A |
16: 14,068,387 (GRCm39) |
T211M |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,800,298 (GRCm39) |
D1458G |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,139,104 (GRCm39) |
T154A |
probably damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,068,039 (GRCm39) |
I620T |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,572,329 (GRCm39) |
Y134F |
probably benign |
Het |
| Nup50l |
T |
A |
6: 96,142,911 (GRCm39) |
R44S |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,613 (GRCm39) |
N300S |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,721 (GRCm39) |
I36N |
probably damaging |
Het |
| Or5b106 |
C |
A |
19: 13,123,541 (GRCm39) |
A161S |
probably benign |
Het |
| Or6c209 |
T |
A |
10: 129,483,792 (GRCm39) |
V265E |
possibly damaging |
Het |
| Pax9 |
G |
T |
12: 56,743,411 (GRCm39) |
R19S |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Plxnb2 |
G |
T |
15: 89,041,614 (GRCm39) |
T1730K |
probably damaging |
Het |
| Rac1 |
A |
G |
5: 143,502,907 (GRCm39) |
|
probably null |
Het |
| Samsn1 |
G |
T |
16: 75,673,353 (GRCm39) |
F174L |
possibly damaging |
Het |
| Scaf1 |
G |
A |
7: 44,662,129 (GRCm39) |
T86M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,428 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,308 (GRCm39) |
I2826T |
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,182 (GRCm39) |
V130A |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,783,252 (GRCm39) |
H538R |
probably damaging |
Het |
| Tlr3 |
C |
A |
8: 45,852,260 (GRCm39) |
|
probably null |
Het |
| Tubb2b |
A |
T |
13: 34,312,187 (GRCm39) |
I202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,587,674 (GRCm39) |
V1453A |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,507,071 (GRCm39) |
T608S |
probably benign |
Het |
| Vrk1 |
C |
A |
12: 106,018,087 (GRCm39) |
H119N |
probably damaging |
Het |
| Wdr53 |
T |
A |
16: 32,075,476 (GRCm39) |
M227K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,746 (GRCm39) |
D129G |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,992 (GRCm39) |
I224T |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,326 (GRCm39) |
E30D |
probably damaging |
Het |
| Zscan29 |
C |
G |
2: 120,991,864 (GRCm39) |
R540T |
possibly damaging |
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 |
|
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 |
|
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'- GGCTCTGTAGGCTTGAGAGA -3'
(R):5'- AGCAACAAGTCCGCATATTCT -3'
Sequencing Primer
(F):5'- AGAGAAAGCATAGTCTCTCTCTCTC -3'
(R):5'- CCGCATATTCTTATTAAACACCGTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation