Incidental Mutation 'R4022:Itsn2'
ID |
313314 |
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 |
040956-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4022 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4674927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 23
(R23H)
|
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: R23H
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: R23H
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 |
noncoding transcript
Transcript: ENSMUST00000217882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218072
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218402
AA Change: R23H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: R23H
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: R23H
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
Meta Mutation Damage Score |
0.5252 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (58/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
Ago3 |
T |
A |
4: 126,262,386 (GRCm39) |
N388I |
probably benign |
Het |
Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lax1 |
C |
T |
1: 133,610,774 (GRCm39) |
G105S |
probably benign |
Het |
Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
Pecam1 |
T |
C |
11: 106,545,986 (GRCm39) |
N693D |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
Trim28 |
T |
C |
7: 12,762,485 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
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 |
R3881:Itsn2
|
UTSW |
12 |
4,684,546 (GRCm39) |
unclassified |
probably benign |
|
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'- GGAAAGCCTTAGGGTTGCTG -3'
(R):5'- TGGATTCTGGACCACCACTTAG -3'
Sequencing Primer
(F):5'- AAAGCCTTAGGGTTGCTGTATGTAG -3'
(R):5'- CTGGACCACCACTTAGAATTTAAG -3'
|
Posted On |
2015-04-30 |