Incidental Mutation 'R8143:Itsn2'
| ID |
632656 |
| 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 |
067571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8143 (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 4683003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 310
(T310A)
|
| 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: T310A
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: T310A
| 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: ENSMUST00000217672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218402
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: T310A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: T310A
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,265,884 (GRCm39) |
C262F |
probably damaging |
Het |
| Acss1 |
T |
C |
2: 150,509,801 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,492 (GRCm39) |
V909A |
possibly damaging |
Het |
| Adprh |
G |
A |
16: 38,270,694 (GRCm39) |
T37M |
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,213,588 (GRCm39) |
Y264* |
probably null |
Het |
| Aox3 |
G |
T |
1: 58,198,074 (GRCm39) |
A629S |
probably benign |
Het |
| Apcs |
G |
A |
1: 172,721,900 (GRCm39) |
P149S |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,294 (GRCm39) |
|
probably null |
Het |
| Asb13 |
G |
A |
13: 3,692,065 (GRCm39) |
G15D |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,000,657 (GRCm39) |
|
probably null |
Het |
| Cacnb1 |
T |
G |
11: 97,894,146 (GRCm39) |
T459P |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,654,630 (GRCm39) |
T718A |
unknown |
Het |
| Cttn |
T |
A |
7: 144,014,999 (GRCm39) |
K70* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cyp39a1 |
T |
C |
17: 44,036,517 (GRCm39) |
V349A |
probably benign |
Het |
| Ebf2 |
C |
A |
14: 67,649,386 (GRCm39) |
Y430* |
probably null |
Het |
| Eef2 |
T |
C |
10: 81,017,182 (GRCm39) |
Y730H |
probably damaging |
Het |
| Eif2ak2 |
G |
A |
17: 79,165,961 (GRCm39) |
T412I |
probably benign |
Het |
| Flnc |
G |
C |
6: 29,441,484 (GRCm39) |
R422P |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,207,682 (GRCm39) |
A2496V |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,614,088 (GRCm39) |
L71P |
probably damaging |
Het |
| Gm7579 |
C |
T |
7: 141,766,163 (GRCm39) |
Q190* |
probably null |
Het |
| H2-T3 |
T |
A |
17: 36,498,384 (GRCm39) |
R220S |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,734,957 (GRCm39) |
V185A |
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,510,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,884,255 (GRCm39) |
V981I |
probably damaging |
Het |
| Kat5 |
A |
G |
19: 5,657,577 (GRCm39) |
|
probably null |
Het |
| Kif22 |
A |
T |
7: 126,632,397 (GRCm39) |
D304E |
probably damaging |
Het |
| Mapre3 |
A |
T |
5: 31,020,719 (GRCm39) |
N147Y |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,628,537 (GRCm39) |
V330A |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,734,525 (GRCm39) |
V709M |
possibly damaging |
Het |
| Myo3a |
T |
G |
2: 22,287,476 (GRCm39) |
|
probably null |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,670 (GRCm39) |
D103E |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,336,530 (GRCm39) |
K1062R |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,648,891 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Olig3 |
T |
G |
10: 19,232,732 (GRCm39) |
V119G |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,587 (GRCm39) |
V31A |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,922,906 (GRCm39) |
S485P |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,642,527 (GRCm39) |
F1301S |
probably damaging |
Het |
| Pank3 |
A |
G |
11: 35,667,036 (GRCm39) |
Y51C |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,658 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,824,415 (GRCm39) |
|
probably null |
Het |
| Psmd9 |
T |
G |
5: 123,366,479 (GRCm39) |
I37S |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,692,117 (GRCm39) |
S135P |
probably damaging |
Het |
| Rexo5 |
T |
A |
7: 119,433,484 (GRCm39) |
|
probably null |
Het |
| Rsrp1 |
T |
A |
4: 134,654,319 (GRCm39) |
D286E |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,169,269 (GRCm39) |
C116Y |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,096,793 (GRCm39) |
T25S |
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,257,138 (GRCm39) |
P555S |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,230 (GRCm39) |
L89Q |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,983,763 (GRCm39) |
N307K |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,484 (GRCm39) |
D189E |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,287 (GRCm39) |
R392C |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,930,362 (GRCm39) |
T769A |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,772,707 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,693,677 (GRCm39) |
E397G |
possibly damaging |
Het |
| Vcl |
A |
T |
14: 21,037,112 (GRCm39) |
M237L |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,312 (GRCm39) |
D555V |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,153,625 (GRCm39) |
N229S |
probably damaging |
Het |
| Zfp784 |
A |
C |
7: 5,038,910 (GRCm39) |
V216G |
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 |
|
|
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 |
|
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'- GCTATGATGAGTCACTCTCTTCTG -3'
(R):5'- CAGAGCAAGTATGTAGCTCTCC -3'
Sequencing Primer
(F):5'- TGGAGATTAAGGGTAAAAATTGACTC -3'
(R):5'- TCCTCTAAACCGATGCATGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation