Incidental Mutation 'R1976:Itsn2'
| ID |
221753 |
| 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 |
039989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 4722733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
| 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 |
noncoding transcript
Transcript: ENSMUST00000218985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220311
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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 |
|---|
| Abca13 |
T |
C |
11: 9,347,815 (GRCm39) |
V3556A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,854,417 (GRCm39) |
I833V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,217,861 (GRCm39) |
H432L |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,463 (GRCm39) |
I204F |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,262 (GRCm39) |
F486I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,417,449 (GRCm39) |
L429Q |
possibly damaging |
Het |
| Ccdc33 |
A |
T |
9: 58,024,445 (GRCm39) |
Y227* |
probably null |
Het |
| Cd101 |
A |
G |
3: 100,915,377 (GRCm39) |
V730A |
probably damaging |
Het |
| Cdadc1 |
A |
T |
14: 59,811,217 (GRCm39) |
V431E |
probably damaging |
Het |
| Dazap1 |
T |
A |
10: 80,110,454 (GRCm39) |
|
probably null |
Het |
| Dbpht2 |
T |
A |
12: 74,342,635 (GRCm39) |
|
noncoding transcript |
Het |
| Dennd4b |
A |
T |
3: 90,180,362 (GRCm39) |
T742S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,202 (GRCm39) |
E838G |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,045 (GRCm39) |
D1823E |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,906,233 (GRCm39) |
N556K |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,510,477 (GRCm39) |
I392M |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,388,238 (GRCm39) |
M831K |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
C |
7: 33,956,805 (GRCm39) |
N353K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,240,077 (GRCm39) |
936 |
probably benign |
Het |
| Gm4953 |
T |
A |
1: 158,995,923 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
T |
G |
8: 34,170,288 (GRCm39) |
|
probably null |
Het |
| Habp4 |
G |
T |
13: 64,332,420 (GRCm39) |
V344F |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,160,610 (GRCm39) |
D759G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,705,857 (GRCm39) |
V387E |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,389 (GRCm39) |
V319A |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,716 (GRCm39) |
K348N |
possibly damaging |
Het |
| Lsamp |
T |
C |
16: 41,709,430 (GRCm39) |
V103A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,026,195 (GRCm39) |
C538S |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,604,035 (GRCm39) |
S174P |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,099,926 (GRCm39) |
N607S |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,416,891 (GRCm39) |
S3279L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,289,995 (GRCm39) |
E211G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,165,311 (GRCm39) |
M649K |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,896,209 (GRCm39) |
V372A |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,859,668 (GRCm39) |
C288S |
probably benign |
Het |
| Rab23 |
T |
A |
1: 33,763,019 (GRCm39) |
C30S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,344 (GRCm39) |
T797A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,108 (GRCm39) |
D940G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,161,615 (GRCm39) |
E311G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,573 (GRCm39) |
I1598N |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,145,957 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Sprr3 |
T |
A |
3: 92,364,253 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,295 (GRCm39) |
V64D |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,424,336 (GRCm39) |
N483T |
possibly damaging |
Het |
| Trp53 |
C |
T |
11: 69,479,323 (GRCm39) |
T167M |
probably damaging |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,336,720 (GRCm39) |
L148P |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,509,527 (GRCm39) |
E44G |
possibly damaging |
Het |
| Usp40 |
T |
G |
1: 87,906,258 (GRCm39) |
Q659P |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,723 (GRCm39) |
C76R |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,925 (GRCm39) |
G660R |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,691 (GRCm39) |
H749L |
probably 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 |
|
|
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'- AAGTGGAAGTCCTGTTCCCTC -3'
(R):5'- AGCTAATCTAAGACACCCTGTG -3'
Sequencing Primer
(F):5'- CTCTTCCTGGGATGTATGACAAAC -3'
(R):5'- TAAGACACCCTGTGCTTTAACGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation