Incidental Mutation 'R0225:Chn2'
| ID |
33844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chn2
|
| Ensembl Gene |
ENSMUSG00000004633 |
| Gene Name |
chimerin 2 |
| Synonyms |
1700026N20Rik, 4930557O16Rik |
| MMRRC Submission |
038470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R0225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
54016917-54278797 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 54267436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046856]
[ENSMUST00000067741]
[ENSMUST00000114401]
[ENSMUST00000114402]
[ENSMUST00000146114]
[ENSMUST00000203091]
[ENSMUST00000204115]
[ENSMUST00000204921]
[ENSMUST00000204746]
[ENSMUST00000203941]
|
| AlphaFold |
Q80XD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046856
|
| SMART Domains |
Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
| 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 |
probably benign
Transcript: ENSMUST00000067741
|
| SMART Domains |
Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
1.88e-15 |
SMART |
|
RhoGAP
|
152 |
329 |
2.73e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114401
|
| SMART Domains |
Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
24 |
73 |
1.88e-15 |
SMART |
|
RhoGAP
|
97 |
274 |
2.73e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114402
|
| SMART Domains |
Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
24 |
73 |
1.88e-15 |
SMART |
|
RhoGAP
|
97 |
224 |
2.07e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146114
|
| SMART Domains |
Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
29 |
78 |
1.88e-15 |
SMART |
|
RhoGAP
|
102 |
279 |
2.73e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203091
|
| SMART Domains |
Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
9.1e-18 |
SMART |
|
Pfam:RhoGAP
|
155 |
196 |
5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204115
|
| SMART Domains |
Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
9.1e-18 |
SMART |
|
RhoGAP
|
101 |
257 |
3.7e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204921
|
| SMART Domains |
Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
9.1e-18 |
SMART |
|
RhoGAP
|
152 |
283 |
4.9e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204746
|
| SMART Domains |
Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
101 |
271 |
4.7e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203941
|
| SMART Domains |
Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
101 |
225 |
1.2e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,335,154 (GRCm39) |
V70L |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
| Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,924,748 (GRCm39) |
S14G |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
| Dele1 |
G |
A |
18: 38,394,317 (GRCm39) |
V505I |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,330 (GRCm39) |
N736S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,702,114 (GRCm39) |
T267A |
probably benign |
Het |
| Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,181 (GRCm39) |
N11S |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
| Gata3 |
T |
C |
2: 9,879,620 (GRCm39) |
T119A |
probably benign |
Het |
| Gm10647 |
A |
G |
9: 66,705,777 (GRCm39) |
|
probably benign |
Het |
| Gm10936 |
G |
A |
10: 117,084,035 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
A |
G |
14: 56,367,161 (GRCm39) |
W244R |
probably damaging |
Het |
| Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
| Hira |
T |
A |
16: 18,774,921 (GRCm39) |
F949I |
probably benign |
Het |
| Ighv15-2 |
T |
G |
12: 114,528,657 (GRCm39) |
|
probably benign |
Het |
| Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,002,168 (GRCm39) |
M91L |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
| Kat2b |
A |
G |
17: 53,948,238 (GRCm39) |
E336G |
probably damaging |
Het |
| Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
| Kif23 |
C |
G |
9: 61,832,976 (GRCm39) |
|
probably benign |
Het |
| Lgi3 |
A |
T |
14: 70,770,261 (GRCm39) |
I109L |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,479,006 (GRCm39) |
V278A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,267,290 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,218,657 (GRCm39) |
|
probably benign |
Het |
| Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,051,673 (GRCm39) |
V952L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
| Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,386,092 (GRCm39) |
K80Q |
probably damaging |
Het |
| Or8d1b |
A |
G |
9: 38,887,574 (GRCm39) |
I201V |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,146 (GRCm39) |
D1604E |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,408,658 (GRCm39) |
L47P |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,011,412 (GRCm39) |
S224R |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
| Siglecg |
G |
A |
7: 43,060,595 (GRCm39) |
G325D |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,793 (GRCm39) |
I172F |
unknown |
Het |
| Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
| St14 |
T |
A |
9: 31,019,580 (GRCm39) |
|
probably null |
Het |
| Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
| Tbxa2r |
C |
A |
10: 81,168,734 (GRCm39) |
T141K |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
| Tyms |
A |
G |
5: 30,268,256 (GRCm39) |
I148T |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,865 (GRCm39) |
S122A |
probably benign |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,105 (GRCm39) |
Y426H |
probably benign |
Het |
| Zfp948 |
A |
T |
17: 21,807,556 (GRCm39) |
K249N |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,061,838 (GRCm39) |
T321I |
probably damaging |
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 |
|
IGL03357:Chn2
|
APN |
6 |
54,171,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGGACCCAGTGACGCTAATG -3'
(R):5'- ACTCCCCGAATGAGTCTCCAGTATG -3'
Sequencing Primer
(F):5'- CACAGATTGTGGGTTAAACGTACAC -3'
(R):5'- tcagatcattgctctctagcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation