Incidental Mutation 'R1628:Itsn2'
ID |
172632 |
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 |
039665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 4679652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 154
(M154L)
|
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: M154L
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: M154L
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 benign
Transcript: ENSMUST00000218402
AA Change: M154L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: M154L
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: M154L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
Meta Mutation Damage Score |
0.0573 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
99% (75/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,593 (GRCm39) |
L579S |
probably damaging |
Het |
Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
Pecam1 |
A |
T |
11: 106,573,786 (GRCm39) |
|
probably null |
Het |
Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
Ralgapb |
A |
G |
2: 158,272,383 (GRCm39) |
R146G |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,910 (GRCm39) |
E70G |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
Usp42 |
A |
G |
5: 143,703,122 (GRCm39) |
S500P |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
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 |
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 |
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'- ACTTCAGATGCAGGGCTGCTTTATG -3'
(R):5'- TCAGAGACTGGGCCTTCTGGATAC -3'
Sequencing Primer
(F):5'- GGGTGCTTTTTATACTGTAGCTTG -3'
(R):5'- TCATCAGGCTGTAAGATGATGC -3'
|
Posted On |
2014-04-24 |