Incidental Mutation 'R7471:Itsn2'
| ID |
579214 |
| 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 |
045545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4758198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1508
(R1508H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062580
AA Change: R1481H
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: R1481H
| 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: ENSMUST00000219007
AA Change: R1481H
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220311
AA Change: R1508H
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,168,608 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
C |
11: 105,864,308 (GRCm39) |
V483A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,133,751 (GRCm39) |
T358S |
possibly damaging |
Het |
| Apoh |
C |
T |
11: 108,298,131 (GRCm39) |
P144S |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,408,355 (GRCm39) |
W1666R |
unknown |
Het |
| Asap3 |
A |
G |
4: 135,960,957 (GRCm39) |
H223R |
possibly damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,645,977 (GRCm39) |
S81P |
possibly damaging |
Het |
| Brd10 |
A |
C |
19: 29,707,139 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
G |
4: 104,674,822 (GRCm39) |
S550P |
probably benign |
Het |
| Cacna2d1 |
C |
G |
5: 16,139,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
A |
G |
10: 4,470,803 (GRCm39) |
T216A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,859,197 (GRCm39) |
K2429I |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,569 (GRCm39) |
N2181S |
probably benign |
Het |
| Cimap1c |
C |
T |
9: 56,759,783 (GRCm39) |
|
probably null |
Het |
| Clip3 |
T |
C |
7: 30,001,377 (GRCm39) |
V342A |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Cyp20a1 |
T |
C |
1: 60,393,799 (GRCm39) |
F139S |
probably damaging |
Het |
| Dclre1b |
T |
A |
3: 103,710,430 (GRCm39) |
R494W |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,660,969 (GRCm39) |
I1695T |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,858 (GRCm39) |
L3760P |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,765,072 (GRCm39) |
D1688G |
possibly damaging |
Het |
| Drosha |
G |
A |
15: 12,889,742 (GRCm39) |
R870Q |
probably damaging |
Het |
| Dsg2 |
G |
T |
18: 20,713,675 (GRCm39) |
M215I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,233,651 (GRCm39) |
D3453V |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,365 (GRCm39) |
Y358F |
|
Het |
| Ermp1 |
A |
T |
19: 29,590,054 (GRCm39) |
M853K |
probably benign |
Het |
| Hace1 |
T |
G |
10: 45,577,075 (GRCm39) |
I823S |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,853,785 (GRCm39) |
Y227F |
probably benign |
Het |
| Hells |
A |
G |
19: 38,945,501 (GRCm39) |
N580S |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,718 (GRCm39) |
F82L |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,623,122 (GRCm39) |
D405G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,825 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
T |
A |
9: 56,528,167 (GRCm39) |
K147* |
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,194,787 (GRCm39) |
S1371G |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,307 (GRCm39) |
D298G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,366,082 (GRCm39) |
V2893E |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,219,489 (GRCm39) |
D114G |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,540,729 (GRCm39) |
W6R |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,431 (GRCm39) |
L97P |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,697,417 (GRCm39) |
F36I |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,260,204 (GRCm39) |
S253N |
probably damaging |
Het |
| Nmnat1 |
T |
A |
4: 149,557,758 (GRCm39) |
T95S |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,073,985 (GRCm39) |
I298N |
probably damaging |
Het |
| Or51a8 |
A |
G |
7: 102,549,760 (GRCm39) |
Y62C |
probably benign |
Het |
| Or56b35 |
T |
G |
7: 104,963,712 (GRCm39) |
L167R |
probably damaging |
Het |
| Or8g37 |
A |
T |
9: 39,731,423 (GRCm39) |
M163L |
probably benign |
Het |
| Polr2b |
C |
T |
5: 77,468,913 (GRCm39) |
R230* |
probably null |
Het |
| Prkra |
T |
A |
2: 76,477,545 (GRCm39) |
E53D |
probably benign |
Het |
| Rasgrp4 |
T |
A |
7: 28,845,405 (GRCm39) |
L376Q |
probably damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,964,961 (GRCm39) |
S65P |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,090,029 (GRCm39) |
P273S |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,589,374 (GRCm39) |
E93G |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,117,724 (GRCm39) |
F162S |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,250,701 (GRCm39) |
Y377H |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,108,439 (GRCm39) |
A661V |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,673,479 (GRCm39) |
N996S |
unknown |
Het |
| Tbca |
A |
T |
13: 94,968,923 (GRCm39) |
I37F |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,672,716 (GRCm39) |
V75E |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,333,263 (GRCm39) |
S243C |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,964,438 (GRCm39) |
D911G |
probably damaging |
Het |
| Tmbim6 |
A |
G |
15: 99,299,324 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,708 (GRCm39) |
D81E |
probably benign |
Het |
| Ttpal |
T |
A |
2: 163,448,945 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,534,787 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,658 (GRCm39) |
I328V |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,850 (GRCm39) |
L231* |
probably null |
Het |
| Xirp1 |
G |
A |
9: 119,848,176 (GRCm39) |
Q236* |
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,664,682 (GRCm39) |
T514A |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,021,200 (GRCm39) |
I243V |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,542 (GRCm39) |
Y467N |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,388 (GRCm39) |
K85N |
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 |
|
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 |
|
|
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'- GGGTACTTACTTTGCCATCCAGG -3'
(R):5'- TAAGCTGGAGCCTACTGTGG -3'
Sequencing Primer
(F):5'- TTGGGCATCAGACCCCTCTG -3'
(R):5'- AGCCTACTGTGGGGCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation