Incidental Mutation 'R5725:Itsn2'
ID |
452458 |
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 |
043343-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5725 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
4642792-4763952 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 4680767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062580]
[ENSMUST00000218402]
[ENSMUST00000220311]
[ENSMUST00000219007]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000062580
AA Change: Y263N
|
SMART Domains |
Protein: ENSMUSP00000052758 Gene: ENSMUSG00000020640 AA Change: Y263N
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: ENSMUST00000217882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218072
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218402
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220311
AA Change: Y263N
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219007
AA Change: Y263N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219832
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
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 |
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'- TTCCCTGGCCAGTAAAATGC -3'
(R):5'- ACCTCTTGCACTTAACTTGGCATAAG -3'
Sequencing Primer
(F):5'- GTAAAATGCCTGGAATTGTAGGTTC -3'
(R):5'- AGCAATCAAGTGAATCCATCTTTC -3'
|
Posted On |
2017-01-03 |