Incidental Mutation 'R6941:Itsn2'
| ID |
540563 |
| 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 |
045055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4679641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 150
(I150T)
|
| 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: I150T
|
| SMART Domains |
Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640
AA Change: I150T
| 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: ENSMUST00000218402
AA Change: I150T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: I150T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: I150T
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,140,370 (GRCm39) |
I1557F |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,787,420 (GRCm39) |
D176E |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,922 (GRCm39) |
V11E |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,986,609 (GRCm39) |
H225R |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,501,203 (GRCm39) |
Y1016H |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,267 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,819,469 (GRCm39) |
V481A |
probably benign |
Het |
| Cabp1 |
A |
T |
5: 115,310,960 (GRCm39) |
D295E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,699 (GRCm39) |
T582S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,076,758 (GRCm39) |
S145P |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,857,297 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,246 (GRCm39) |
Y353C |
probably benign |
Het |
| Dsg1c |
C |
T |
18: 20,400,980 (GRCm39) |
T161I |
probably damaging |
Het |
| Epm2a |
A |
G |
10: 11,266,829 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,152,914 (GRCm39) |
H3766R |
probably benign |
Het |
| Fjx1 |
A |
G |
2: 102,280,903 (GRCm39) |
V344A |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,016,363 (GRCm39) |
I93V |
probably benign |
Het |
| Gbe1 |
TAGTAAGAGT |
TAGT |
16: 70,230,444 (GRCm39) |
|
probably benign |
Het |
| Gdf15 |
A |
G |
8: 71,082,794 (GRCm39) |
L104P |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,393,961 (GRCm39) |
R24Q |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
| Ipmk |
G |
A |
10: 71,183,920 (GRCm39) |
G47S |
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,476,068 (GRCm39) |
Y545C |
probably damaging |
Het |
| Klk1b8 |
C |
A |
7: 43,602,213 (GRCm39) |
H48Q |
possibly damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,678,969 (GRCm39) |
Y376C |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,941,222 (GRCm39) |
D278E |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Ndst4 |
T |
G |
3: 125,403,160 (GRCm39) |
H422Q |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,430,376 (GRCm39) |
E206G |
probably damaging |
Het |
| Nufip2 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 77,577,122 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,861 (GRCm39) |
N170K |
possibly damaging |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,048 (GRCm39) |
Y438C |
probably damaging |
Het |
| Pigr |
G |
T |
1: 130,775,064 (GRCm39) |
W497L |
probably damaging |
Het |
| Pkd2l2 |
G |
T |
18: 34,549,936 (GRCm39) |
V194L |
probably benign |
Het |
| Ppp1r16b |
A |
T |
2: 158,538,068 (GRCm39) |
K5M |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,898,307 (GRCm39) |
S35R |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,424,385 (GRCm39) |
M126I |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,303 (GRCm39) |
Q258* |
probably null |
Het |
| Rad51d |
A |
G |
11: 82,780,623 (GRCm39) |
L53P |
probably damaging |
Het |
| Rell2 |
G |
A |
18: 38,091,341 (GRCm39) |
A169T |
probably benign |
Het |
| Rnf19b |
T |
C |
4: 128,976,572 (GRCm39) |
I545T |
probably benign |
Het |
| Slc12a1 |
G |
T |
2: 125,055,999 (GRCm39) |
E843D |
possibly damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,346 (GRCm39) |
S507P |
probably damaging |
Het |
| Slc6a1 |
G |
A |
6: 114,290,473 (GRCm39) |
W316* |
probably null |
Het |
| Spesp1 |
A |
G |
9: 62,180,152 (GRCm39) |
L252P |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,385,811 (GRCm39) |
|
probably benign |
Het |
| Srcap |
A |
G |
7: 127,141,769 (GRCm39) |
T1850A |
probably damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,266,365 (GRCm39) |
T604A |
possibly damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,846 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,451 (GRCm39) |
R76G |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,330,977 (GRCm39) |
A419S |
probably damaging |
Het |
| Usp54 |
T |
G |
14: 20,612,177 (GRCm39) |
I880L |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,134 (GRCm39) |
V377D |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,581,159 (GRCm39) |
E65D |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,121,491 (GRCm39) |
E134G |
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 |
|
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'- ATCACTTCAGATGCAGGGCTG -3'
(R):5'- TTCCACAAAGAAGGAACTCTGTG -3'
Sequencing Primer
(F):5'- AATTTTGCAAAATTGAGGGTGC -3'
(R):5'- TGTGAACAACAAACCACAGTTTCTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation