Incidental Mutation 'R9386:Itsn2'
ID |
710343 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9386 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4679730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(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: S180P
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: S180P
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: ENSMUST00000218402
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: S180P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: S180P
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
A |
10: 10,274,708 (GRCm39) |
M750L |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,745,428 (GRCm39) |
H673L |
|
Het |
Alg1 |
T |
C |
16: 5,059,201 (GRCm39) |
L338P |
probably damaging |
Het |
Anapc1 |
A |
C |
2: 128,459,642 (GRCm39) |
S1806A |
probably benign |
Het |
Anks1 |
C |
T |
17: 28,272,880 (GRCm39) |
T925I |
probably benign |
Het |
Aoc1l1 |
A |
G |
6: 48,952,324 (GRCm39) |
N83S |
probably benign |
Het |
Apob |
G |
A |
12: 8,056,629 (GRCm39) |
A1704T |
probably damaging |
Het |
Arnt |
G |
A |
3: 95,395,687 (GRCm39) |
V422M |
possibly damaging |
Het |
Cblb |
C |
A |
16: 51,986,701 (GRCm39) |
S648* |
probably null |
Het |
Cdk18 |
A |
G |
1: 132,044,183 (GRCm39) |
|
probably null |
Het |
Celsr1 |
T |
C |
15: 85,863,231 (GRCm39) |
D1267G |
probably damaging |
Het |
Chtf18 |
C |
T |
17: 25,942,732 (GRCm39) |
R399H |
probably damaging |
Het |
Cntnap1 |
T |
A |
11: 101,076,052 (GRCm39) |
Y979N |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,853,794 (GRCm39) |
D256G |
probably damaging |
Het |
Dbn1 |
C |
T |
13: 55,629,760 (GRCm39) |
R174Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,871,507 (GRCm39) |
|
probably null |
Het |
Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
Dnajc6 |
G |
A |
4: 101,494,098 (GRCm39) |
|
probably null |
Het |
Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
Eloa |
A |
G |
4: 135,737,847 (GRCm39) |
V371A |
probably benign |
Het |
Epb41l4b |
A |
T |
4: 57,076,553 (GRCm39) |
V327E |
probably damaging |
Het |
Fbxo15 |
A |
T |
18: 84,977,372 (GRCm39) |
T140S |
probably benign |
Het |
Fryl |
A |
T |
5: 73,349,152 (GRCm39) |
F3L |
unknown |
Het |
Galnt16 |
T |
C |
12: 80,644,880 (GRCm39) |
V501A |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,502,101 (GRCm39) |
I590T |
probably benign |
Het |
Hcfc2 |
T |
A |
10: 82,574,937 (GRCm39) |
F199I |
probably damaging |
Het |
Hoxd13 |
A |
G |
2: 74,499,327 (GRCm39) |
Y225C |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,314,362 (GRCm39) |
L4282P |
probably benign |
Het |
Ing2 |
T |
C |
8: 48,127,561 (GRCm39) |
E52G |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,765,129 (GRCm39) |
E727G |
probably damaging |
Het |
Klhl26 |
A |
G |
8: 70,904,156 (GRCm39) |
F585L |
probably benign |
Het |
Lce1a1 |
T |
G |
3: 92,554,190 (GRCm39) |
S95R |
unknown |
Het |
Lrp1b |
A |
T |
2: 41,013,640 (GRCm39) |
V1955E |
|
Het |
Megf6 |
G |
A |
4: 154,340,534 (GRCm39) |
G583E |
probably damaging |
Het |
Mex3a |
A |
G |
3: 88,443,505 (GRCm39) |
I194V |
possibly damaging |
Het |
Mmp10 |
A |
T |
9: 7,503,388 (GRCm39) |
Y116F |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,279,389 (GRCm39) |
D155V |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,252,252 (GRCm39) |
C232R |
probably damaging |
Het |
Nopchap1 |
T |
C |
10: 83,196,129 (GRCm39) |
F3L |
probably benign |
Het |
Or13n4 |
T |
C |
7: 106,423,707 (GRCm39) |
I9V |
probably benign |
Het |
Pdgfd |
C |
A |
9: 6,293,903 (GRCm39) |
A159E |
possibly damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Plekha8 |
C |
A |
6: 54,605,846 (GRCm39) |
T307K |
probably damaging |
Het |
Pnpla6 |
T |
C |
8: 3,571,417 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
G |
16: 15,496,136 (GRCm39) |
S776A |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,104,125 (GRCm39) |
I1201T |
probably benign |
Het |
Pxmp4 |
C |
A |
2: 154,430,004 (GRCm39) |
M128I |
probably benign |
Het |
Siglech |
T |
C |
7: 55,422,312 (GRCm39) |
S306P |
probably benign |
Het |
Strc |
C |
T |
2: 121,198,211 (GRCm39) |
E1449K |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,354,346 (GRCm39) |
Q1262L |
unknown |
Het |
Tln2 |
A |
T |
9: 67,273,249 (GRCm39) |
D410E |
possibly damaging |
Het |
Tmem175 |
A |
T |
5: 108,787,339 (GRCm39) |
Q62L |
probably benign |
Het |
Tpm3-rs7 |
A |
C |
14: 113,552,597 (GRCm39) |
M164L |
probably benign |
Het |
Trav8d-2 |
G |
A |
14: 53,280,220 (GRCm39) |
R70H |
probably damaging |
Het |
Tsc1 |
T |
C |
2: 28,561,858 (GRCm39) |
S332P |
probably benign |
Het |
Ttc41 |
T |
G |
10: 86,548,890 (GRCm39) |
I28R |
probably damaging |
Het |
Unc93a2 |
C |
T |
17: 7,637,164 (GRCm39) |
W341* |
probably null |
Het |
Vsig10 |
A |
C |
5: 117,463,140 (GRCm39) |
Y122S |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,220,822 (GRCm39) |
W1260R |
probably 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 |
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 |
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'- TGGGAAGCATGCCCAATCTG -3'
(R):5'- AATCAGAGACTGGGCCTTCTG -3'
Sequencing Primer
(F):5'- GAAGCATGCCCAATCTGTCCATTC -3'
(R):5'- AGAGACTGGGCCTTCTGGATAC -3'
|
Posted On |
2022-04-18 |