Incidental Mutation 'R5843:Chn1'
| ID |
450528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chn1
|
| Ensembl Gene |
ENSMUSG00000056486 |
| Gene Name |
chimerin 1 |
| Synonyms |
ARHGAP2, 2900046J01Rik, 1700112L09Rik, alpha2 chimaerin, alpha1 chimaerin, 0710001E19Rik, 0610007I19Rik |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
73441004-73605690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73510092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112024]
[ENSMUST00000135904]
[ENSMUST00000139252]
[ENSMUST00000166199]
[ENSMUST00000180045]
|
| AlphaFold |
Q91V57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112024
AA Change: I139T
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: I139T
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
47 |
126 |
7.63e-15 |
SMART |
|
C1
|
206 |
255 |
5.6e-14 |
SMART |
|
RhoGAP
|
279 |
456 |
3.41e-74 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124450
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135904
AA Change: I87T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115029
Gene: ENSMUSG00000056486
AA Change: I87T
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
1 |
74 |
1.84e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139252
|
| SMART Domains |
Protein: ENSMUSP00000123312
Gene: ENSMUSG00000056486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH2
|
49 |
87 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166199
AA Change: I139T
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: I139T
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
47 |
126 |
7.63e-15 |
SMART |
|
RhoGAP
|
228 |
398 |
2.36e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180045
|
| SMART Domains |
Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
30 |
207 |
3.41e-74 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229987
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homologous for a null allele exhibit transient postnatal size reduction, abnormal gait and abnormal innervation of the spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
Het |
|
| Other mutations in Chn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Chn1
|
APN |
2 |
73,462,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0043:Chn1
|
UTSW |
2 |
73,454,509 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0107:Chn1
|
UTSW |
2 |
73,445,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Chn1
|
UTSW |
2 |
73,462,094 (GRCm39) |
nonsense |
probably null |
|
|
R1496:Chn1
|
UTSW |
2 |
73,509,951 (GRCm39) |
splice site |
probably benign |
|
|
R1935:Chn1
|
UTSW |
2 |
73,455,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Chn1
|
UTSW |
2 |
73,455,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Chn1
|
UTSW |
2 |
73,455,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Chn1
|
UTSW |
2 |
73,443,427 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5005:Chn1
|
UTSW |
2 |
73,490,130 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6247:Chn1
|
UTSW |
2 |
73,537,350 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6564:Chn1
|
UTSW |
2 |
73,448,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Chn1
|
UTSW |
2 |
73,510,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Chn1
|
UTSW |
2 |
73,448,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Chn1
|
UTSW |
2 |
73,443,430 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9222:Chn1
|
UTSW |
2 |
73,443,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Chn1
|
UTSW |
2 |
73,490,184 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACACTGTGGGAACTTTCGG -3'
(R):5'- AGCATCTTTCCCATTTCATTGAGG -3'
Sequencing Primer
(F):5'- TGGGAACTTTCGGGCAGAG -3'
(R):5'- CCCATTTCATTGAGGCAGATTTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation