Incidental Mutation 'R1601:Itsn2'
| ID |
176167 |
| 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 |
039638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4708452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 836
(S836P)
|
| 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
AA Change: S809P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: S809P
| 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 |
unknown
Transcript: ENSMUST00000217672
AA Change: S367P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218352
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219007
AA Change: S809P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220311
AA Change: S836P
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Adgra2 |
T |
C |
8: 27,600,046 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
T |
C |
4: 129,886,630 (GRCm39) |
S257P |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,748,353 (GRCm39) |
K518E |
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,514,683 (GRCm39) |
Y64* |
probably null |
Het |
| Arhgef7 |
A |
G |
8: 11,832,638 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
T |
A |
1: 179,892,566 (GRCm39) |
Y243* |
probably null |
Het |
| Cdk14 |
C |
T |
5: 5,185,378 (GRCm39) |
V176M |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,175,551 (GRCm39) |
E54G |
probably damaging |
Het |
| Crx |
T |
C |
7: 15,601,736 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,611 (GRCm39) |
F511L |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,457,380 (GRCm39) |
M810V |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,527,519 (GRCm39) |
T1077A |
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,418,303 (GRCm39) |
D2011N |
probably damaging |
Het |
| Ehhadh |
T |
A |
16: 21,585,158 (GRCm39) |
H241L |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,774,756 (GRCm39) |
K740* |
probably null |
Het |
| Enah |
A |
T |
1: 181,747,185 (GRCm39) |
L523* |
probably null |
Het |
| Fabp3 |
T |
C |
4: 130,202,641 (GRCm39) |
L24P |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,172,836 (GRCm39) |
S2626P |
probably benign |
Het |
| Fbxo4 |
A |
G |
15: 3,998,447 (GRCm39) |
M337T |
possibly damaging |
Het |
| Gas6 |
G |
T |
8: 13,515,786 (GRCm39) |
T662N |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Hrh4 |
G |
A |
18: 13,148,955 (GRCm39) |
V106I |
possibly damaging |
Het |
| Ido2 |
G |
T |
8: 25,066,205 (GRCm39) |
H20Q |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,560,974 (GRCm39) |
R613L |
possibly damaging |
Het |
| Kcng3 |
A |
T |
17: 83,895,768 (GRCm39) |
C233S |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,941,784 (GRCm39) |
Q625R |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,055,087 (GRCm39) |
S553G |
probably benign |
Het |
| Krt82 |
A |
T |
15: 101,453,588 (GRCm39) |
I266N |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,538 (GRCm39) |
L736Q |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,970,329 (GRCm39) |
C138R |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,845,982 (GRCm39) |
C397R |
possibly damaging |
Het |
| Me1 |
A |
C |
9: 86,560,065 (GRCm39) |
Y52D |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,575,875 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
G |
T |
5: 113,019,364 (GRCm39) |
Q638K |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,162,735 (GRCm39) |
L170P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,177,264 (GRCm39) |
L1359* |
probably null |
Het |
| Nomo1 |
C |
A |
7: 45,696,379 (GRCm39) |
S299Y |
probably damaging |
Het |
| Onecut1 |
A |
T |
9: 74,769,973 (GRCm39) |
H132L |
probably benign |
Het |
| Or2b2 |
C |
A |
13: 21,887,396 (GRCm39) |
T75K |
probably damaging |
Het |
| Or2w3 |
A |
T |
11: 58,556,903 (GRCm39) |
R173W |
probably damaging |
Het |
| Or4e2 |
A |
C |
14: 52,687,899 (GRCm39) |
T10P |
probably benign |
Het |
| Or7a41 |
A |
T |
10: 78,871,338 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Paqr3 |
A |
G |
5: 97,259,248 (GRCm39) |
Y19H |
probably benign |
Het |
| Prdx5 |
T |
C |
19: 6,884,926 (GRCm39) |
H140R |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,893,203 (GRCm39) |
D414G |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,555,637 (GRCm39) |
E774A |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,844,944 (GRCm39) |
D412V |
possibly damaging |
Het |
| Sars2 |
C |
T |
7: 28,448,396 (GRCm39) |
T259M |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,939,283 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
C |
T |
10: 79,896,326 (GRCm39) |
R898H |
probably damaging |
Het |
| Smox |
C |
A |
2: 131,362,094 (GRCm39) |
T172N |
probably damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,949,521 (GRCm39) |
S2G |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 111,989,687 (GRCm39) |
R341* |
probably null |
Het |
| Thrap3 |
C |
G |
4: 126,073,894 (GRCm39) |
G284A |
probably damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,182,238 (GRCm39) |
V271A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,202,545 (GRCm39) |
T1637A |
probably damaging |
Het |
| Tspan5 |
T |
A |
3: 138,602,596 (GRCm39) |
I166N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,642,582 (GRCm39) |
V1398A |
probably benign |
Het |
| Xbp1 |
C |
T |
11: 5,471,975 (GRCm39) |
R34W |
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 |
|
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 |
|
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'- ACCTCAACTTCTTCCCAGTGAGTCG -3'
(R):5'- CTGAGTGCTACAGGCTCTGCTTAAC -3'
Sequencing Primer
(F):5'- AATGCATGTTGGGCCAACC -3'
(R):5'- CTCTGCTTAACGGGGGAAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation