Incidental Mutation 'R2168:Itsn2'
| ID |
235621 |
| 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 |
040171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2168 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 4683044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000218402]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062580
AA Change: L323F
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: L323F
| 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 |
probably benign
Transcript: ENSMUST00000218402
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: L323F
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: L323F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
| Als2cl |
C |
A |
9: 110,717,810 (GRCm39) |
P301H |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
| Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
| F2 |
C |
T |
2: 91,458,693 (GRCm39) |
R539Q |
probably damaging |
Het |
| Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
| Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,960 (GRCm39) |
V386A |
probably benign |
Het |
| Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
| Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
| Msh4 |
A |
T |
3: 153,573,472 (GRCm39) |
Y533* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
| Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
| Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
| Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
| Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
| Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
| Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
| Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,994,887 (GRCm39) |
C503R |
probably damaging |
Het |
| Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
probably null |
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 |
|
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 |
PCR Primer
(F):5'- GCATTTGCTATGATGAGTCACTCTC -3'
(R):5'- TGTTCCTGGGCAAGCCTTAC -3'
Sequencing Primer
(F):5'- GCTATGATGAGTCACTCTCTTCTG -3'
(R):5'- GGGCAAGCCTTACTTAATCTTCTCAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation