Incidental Mutation 'IGL03357:Chn2'
| ID |
419991 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chn2
|
| Ensembl Gene |
ENSMUSG00000004633 |
| Gene Name |
chimerin 2 |
| Synonyms |
1700026N20Rik, 4930557O16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL03357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
54016917-54278797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54171062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 47
(R47Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046856]
[ENSMUST00000127323]
[ENSMUST00000133315]
|
| AlphaFold |
Q80XD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046856
AA Change: R47Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: R47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
SH2
|
57 |
136 |
7.23e-16 |
SMART |
|
C1
|
215 |
264 |
1.88e-15 |
SMART |
|
RhoGAP
|
288 |
465 |
2.73e-73 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114403
|
| SMART Domains |
Protein: ENSMUSP00000110045
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
SH2
|
57 |
136 |
7.23e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127323
AA Change: R47Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118990
Gene: ENSMUSG00000004633
AA Change: R47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
17 |
49 |
3e-16 |
BLAST |
|
PDB:1XA6|A
|
17 |
58 |
1e-17 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133315
AA Change: R47Q
|
| SMART Domains |
Protein: ENSMUSP00000145072
Gene: ENSMUSG00000004633
AA Change: R47Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
17 |
49 |
8e-17 |
BLAST |
|
PDB:1XA6|A
|
17 |
49 |
1e-18 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204410
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired infrapyramidal tract neuron prunning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
| Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
| Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
| Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
| Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
| Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,632,524 (GRCm39) |
H131R |
probably damaging |
Het |
| Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
| Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
probably benign |
Het |
|
| Other mutations in Chn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Chn2
|
APN |
6 |
54,272,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02158:Chn2
|
APN |
6 |
54,277,230 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02618:Chn2
|
APN |
6 |
54,197,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02807:Chn2
|
APN |
6 |
54,272,898 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0002:Chn2
|
UTSW |
6 |
54,250,098 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0123:Chn2
|
UTSW |
6 |
54,267,436 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Chn2
|
UTSW |
6 |
54,267,436 (GRCm39) |
splice site |
probably benign |
|
|
R1478:Chn2
|
UTSW |
6 |
54,270,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Chn2
|
UTSW |
6 |
54,263,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Chn2
|
UTSW |
6 |
54,267,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Chn2
|
UTSW |
6 |
54,246,411 (GRCm39) |
unclassified |
probably benign |
|
|
R4125:Chn2
|
UTSW |
6 |
54,249,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Chn2
|
UTSW |
6 |
54,249,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4128:Chn2
|
UTSW |
6 |
54,249,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Chn2
|
UTSW |
6 |
54,267,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Chn2
|
UTSW |
6 |
54,267,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Chn2
|
UTSW |
6 |
54,267,272 (GRCm39) |
nonsense |
probably null |
|
|
R5121:Chn2
|
UTSW |
6 |
54,195,546 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5208:Chn2
|
UTSW |
6 |
54,272,786 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5240:Chn2
|
UTSW |
6 |
54,197,680 (GRCm39) |
missense |
probably benign |
|
|
R5348:Chn2
|
UTSW |
6 |
54,277,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5861:Chn2
|
UTSW |
6 |
54,267,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Chn2
|
UTSW |
6 |
54,150,446 (GRCm39) |
splice site |
probably null |
|
|
R6824:Chn2
|
UTSW |
6 |
54,249,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7194:Chn2
|
UTSW |
6 |
54,263,162 (GRCm39) |
splice site |
probably null |
|
|
R7740:Chn2
|
UTSW |
6 |
54,277,156 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7765:Chn2
|
UTSW |
6 |
54,275,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7997:Chn2
|
UTSW |
6 |
54,267,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Chn2
|
UTSW |
6 |
54,246,467 (GRCm39) |
splice site |
probably null |
|
|
R8804:Chn2
|
UTSW |
6 |
54,250,061 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9297:Chn2
|
UTSW |
6 |
54,272,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Chn2
|
UTSW |
6 |
54,272,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation