Incidental Mutation 'R9018:Itsn2'
ID |
686159 |
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 |
068848-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9018 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4708091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 799
(N799S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000219007]
[ENSMUST00000220311]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062580
AA Change: N772S
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: N772S
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219007
AA Change: N772S
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220311
AA Change: N799S
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (77/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,918,532 (GRCm39) |
E1552G |
probably damaging |
Het |
Abca14 |
A |
T |
7: 119,888,763 (GRCm39) |
K1236N |
probably benign |
Het |
Adam3 |
A |
T |
8: 25,184,292 (GRCm39) |
Y569* |
probably null |
Het |
Adgrb2 |
A |
G |
4: 129,907,659 (GRCm39) |
T998A |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,098,993 (GRCm39) |
H166Q |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
Ankrd11 |
A |
G |
8: 123,622,251 (GRCm39) |
S534P |
probably damaging |
Het |
Atn1 |
C |
T |
6: 124,722,661 (GRCm39) |
E805K |
unknown |
Het |
Bsn |
T |
C |
9: 107,994,488 (GRCm39) |
T596A |
probably benign |
Het |
Cacnb4 |
C |
T |
2: 52,324,706 (GRCm39) |
R452Q |
probably benign |
Het |
Cdc123 |
C |
A |
2: 5,849,683 (GRCm39) |
A13S |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,847,083 (GRCm39) |
G1609S |
possibly damaging |
Het |
Cp |
T |
A |
3: 20,043,316 (GRCm39) |
C1035S |
probably damaging |
Het |
Dcaf1 |
T |
A |
9: 106,742,836 (GRCm39) |
C1383S |
probably damaging |
Het |
Derl3 |
G |
A |
10: 75,729,604 (GRCm39) |
V54I |
probably benign |
Het |
Dgcr6 |
T |
C |
16: 17,884,607 (GRCm39) |
L25P |
probably damaging |
Het |
Dmrt2 |
A |
G |
19: 25,650,985 (GRCm39) |
E57G |
probably benign |
Het |
Dnaaf11 |
A |
T |
15: 66,321,479 (GRCm39) |
S221T |
probably benign |
Het |
Dst |
A |
G |
1: 34,235,140 (GRCm39) |
K3562E |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,014 (GRCm39) |
T415A |
probably damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fbln1 |
T |
C |
15: 85,126,215 (GRCm39) |
I484T |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,542,004 (GRCm39) |
D1250E |
possibly damaging |
Het |
Ift88 |
A |
C |
14: 57,675,702 (GRCm39) |
K72Q |
probably benign |
Het |
Impg1 |
T |
A |
9: 80,301,474 (GRCm39) |
I228F |
probably benign |
Het |
Jade1 |
T |
A |
3: 41,564,292 (GRCm39) |
C521S |
probably benign |
Het |
Katna1 |
T |
G |
10: 7,637,040 (GRCm39) |
L397R |
probably damaging |
Het |
Kcnj15 |
A |
C |
16: 95,097,129 (GRCm39) |
K250N |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,409,941 (GRCm39) |
I236M |
possibly damaging |
Het |
Mapk13 |
C |
T |
17: 28,996,760 (GRCm39) |
R276C |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mindy4 |
C |
T |
6: 55,278,072 (GRCm39) |
H639Y |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,436,713 (GRCm39) |
S544P |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,582,910 (GRCm39) |
Y492H |
|
Het |
Mybbp1a |
C |
T |
11: 72,334,420 (GRCm39) |
T225I |
probably benign |
Het |
Myo6 |
A |
T |
9: 80,159,086 (GRCm39) |
K285I |
unknown |
Het |
Nmd3 |
G |
A |
3: 69,647,328 (GRCm39) |
V277I |
probably benign |
Het |
Nol9 |
G |
C |
4: 152,123,918 (GRCm39) |
R36P |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,639,712 (GRCm39) |
R13G |
possibly damaging |
Het |
Nudt14 |
G |
A |
12: 112,902,906 (GRCm39) |
H40Y |
probably damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or5b118 |
A |
T |
19: 13,448,721 (GRCm39) |
H87L |
possibly damaging |
Het |
Or8d1b |
T |
A |
9: 38,887,687 (GRCm39) |
F238L |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Pgghg |
A |
G |
7: 140,524,579 (GRCm39) |
I309V |
probably benign |
Het |
Phf12 |
C |
T |
11: 77,914,510 (GRCm39) |
P651S |
possibly damaging |
Het |
Pltp |
A |
G |
2: 164,694,410 (GRCm39) |
L199P |
probably damaging |
Het |
Pole |
T |
A |
5: 110,437,675 (GRCm39) |
L78I |
probably benign |
Het |
Ppm1d |
C |
A |
11: 85,227,961 (GRCm39) |
H292Q |
probably damaging |
Het |
Ppp2cb |
A |
C |
8: 34,105,787 (GRCm39) |
I224L |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,957,880 (GRCm39) |
I171N |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
Rb1cc1 |
G |
A |
1: 6,319,490 (GRCm39) |
E970K |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,748,544 (GRCm39) |
V11D |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,315,520 (GRCm39) |
T288I |
probably benign |
Het |
Scmh1 |
A |
G |
4: 120,362,514 (GRCm39) |
D250G |
probably benign |
Het |
Sele |
T |
A |
1: 163,881,248 (GRCm39) |
C483S |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,174,585 (GRCm39) |
|
probably benign |
Het |
Slc5a4a |
A |
G |
10: 76,002,546 (GRCm39) |
E234G |
possibly damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,355 (GRCm39) |
L954P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,906,494 (GRCm39) |
N413K |
probably damaging |
Het |
Stam2 |
C |
T |
2: 52,606,463 (GRCm39) |
V141I |
probably benign |
Het |
Stim1 |
C |
T |
7: 102,060,482 (GRCm39) |
T175I |
probably benign |
Het |
Strap |
A |
G |
6: 137,716,811 (GRCm39) |
N130S |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,692,627 (GRCm39) |
|
probably benign |
Het |
Sult3a2 |
T |
A |
10: 33,655,689 (GRCm39) |
I97F |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,948,693 (GRCm39) |
N965K |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,319,750 (GRCm39) |
I506N |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tvp23a |
A |
G |
16: 10,264,846 (GRCm39) |
S22P |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,232,539 (GRCm39) |
N846S |
probably damaging |
Het |
Vmn2r83 |
A |
G |
10: 79,316,020 (GRCm39) |
N472S |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,944,864 (GRCm39) |
Q10* |
probably null |
Het |
Zfp423 |
G |
C |
8: 88,508,381 (GRCm39) |
S654R |
probably benign |
Het |
Zfp646 |
A |
T |
7: 127,478,243 (GRCm39) |
H140L |
probably benign |
Het |
Zfp719 |
C |
A |
7: 43,233,489 (GRCm39) |
|
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 |
|
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 |
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'- GTGATTAATTCTGAACCTGAGAGTG -3'
(R):5'- GTGCAGTGTAAGTTCACTCAC -3'
Sequencing Primer
(F):5'- AGTGCTGCGCAGTAGTCTATACTC -3'
(R):5'- AGTATTGAAATGTTGGAAGTGCC -3'
|
Posted On |
2021-10-11 |