Incidental Mutation 'R1478:Chn2'
| ID |
165617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chn2
|
| Ensembl Gene |
ENSMUSG00000004633 |
| Gene Name |
chimerin 2 |
| Synonyms |
1700026N20Rik, 4930557O16Rik |
| MMRRC Submission |
039531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R1478 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
54016917-54278797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54270065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 319
(E319V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046856]
[ENSMUST00000067741]
[ENSMUST00000114401]
[ENSMUST00000114402]
[ENSMUST00000146114]
[ENSMUST00000203091]
[ENSMUST00000204746]
[ENSMUST00000203941]
[ENSMUST00000204921]
[ENSMUST00000204115]
|
| AlphaFold |
Q80XD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046856
AA Change: E319V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: E319V
| 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
AA Change: E183V
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: E183V
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
1.88e-15 |
SMART |
|
RhoGAP
|
152 |
329 |
2.73e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114401
AA Change: E128V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: E128V
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
24 |
73 |
1.88e-15 |
SMART |
|
RhoGAP
|
97 |
274 |
2.73e-73 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114402
AA Change: E128V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: E128V
| 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
AA Change: E133V
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: E133V
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
29 |
78 |
1.88e-15 |
SMART |
|
RhoGAP
|
102 |
279 |
2.73e-73 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203091
AA Change: E183V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: E183V
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
79 |
128 |
9.1e-18 |
SMART |
|
Pfam:RhoGAP
|
155 |
196 |
5e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204746
AA Change: E125V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: E125V
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
101 |
271 |
4.7e-61 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203941
AA Change: E125V
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
AA Change: E125V
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGAP
|
101 |
225 |
1.2e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204921
AA Change: E183V
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: E183V
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
| Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,171,404 (GRCm39) |
V501A |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,671 (GRCm39) |
V114A |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
| Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
| Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
| Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
| Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
| Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
| Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
| Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
| Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
| Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
| Qrich1 |
T |
C |
9: 108,436,531 (GRCm39) |
V743A |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,485,510 (GRCm39) |
D122N |
possibly damaging |
Het |
| Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
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 |
|
|
R0225:Chn2
|
UTSW |
6 |
54,267,436 (GRCm39) |
splice site |
probably benign |
|
|
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'- TCAATCAGATCACTCGGTGCAGC -3'
(R):5'- TGATGAGCGAGATCCTGAATTGAGC -3'
Sequencing Primer
(F):5'- GATCACTCGGTGCAGCTATAAC -3'
(R):5'- AGATCCTGAATTGAGCTGCATCC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation