Incidental Mutation 'IGL02632:Gpatch2'
| ID |
301368 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpatch2
|
| Ensembl Gene |
ENSMUSG00000039210 |
| Gene Name |
G patch domain containing 2 |
| Synonyms |
5830433G22Rik, 5830436K05Rik, Gpatc2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 186958178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 155
(R155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044812]
[ENSMUST00000065573]
[ENSMUST00000110943]
[ENSMUST00000159748]
[ENSMUST00000160471]
[ENSMUST00000160481]
[ENSMUST00000160570]
|
| AlphaFold |
Q7TQC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044812
AA Change: R178G
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065573
AA Change: R178G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
G_patch
|
464 |
510 |
3.95e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097443
|
| SMART Domains |
Protein: ENSMUSP00000095052
Gene: ENSMUSG00000039210
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110943
AA Change: R178G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
G_patch
|
427 |
473 |
3.95e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159748
AA Change: R178G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160471
AA Change: R155G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: R155G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
|
G_patch
|
441 |
487 |
3.95e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160481
AA Change: R178G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: R178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160570
|
| SMART Domains |
Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
133 |
179 |
3.95e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
T |
C |
8: 41,208,237 (GRCm39) |
V501A |
possibly damaging |
Het |
| Alpl |
T |
G |
4: 137,481,217 (GRCm39) |
N145T |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,491,216 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,108,181 (GRCm39) |
D640V |
possibly damaging |
Het |
| Atp5po |
T |
C |
16: 91,725,830 (GRCm39) |
E49G |
probably benign |
Het |
| Card14 |
A |
G |
11: 119,229,730 (GRCm39) |
D747G |
probably benign |
Het |
| Cfap47 |
A |
T |
X: 78,540,279 (GRCm39) |
L553H |
probably damaging |
Het |
| Cpz |
A |
T |
5: 35,669,155 (GRCm39) |
D325E |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,103 (GRCm39) |
I948T |
probably benign |
Het |
| Dpysl3 |
A |
T |
18: 43,526,090 (GRCm39) |
S2T |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 39,056,913 (GRCm39) |
V4203A |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,574,186 (GRCm39) |
|
probably benign |
Het |
| Grpr |
A |
T |
X: 162,298,090 (GRCm39) |
V318E |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,667,861 (GRCm39) |
T569A |
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,350,807 (GRCm38) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,735,698 (GRCm39) |
H98R |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,493,628 (GRCm39) |
D663G |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,647 (GRCm39) |
N205S |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,308,340 (GRCm39) |
E521K |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,217 (GRCm39) |
M162V |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,740,036 (GRCm39) |
D739G |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,960,583 (GRCm39) |
F772S |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,815,864 (GRCm39) |
M565I |
probably damaging |
Het |
| Myt1l |
T |
G |
12: 29,964,292 (GRCm39) |
S1077A |
unknown |
Het |
| Nalcn |
T |
C |
14: 123,555,265 (GRCm39) |
T873A |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,394,082 (GRCm39) |
H448Q |
possibly damaging |
Het |
| Odad2 |
A |
G |
18: 7,214,727 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
T |
C |
17: 37,901,232 (GRCm39) |
E4G |
probably benign |
Het |
| Or51m1 |
A |
G |
7: 103,578,914 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,904 (GRCm39) |
V248A |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,742,054 (GRCm39) |
V292A |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,863 (GRCm39) |
Y477C |
probably damaging |
Het |
| Pramel16 |
A |
G |
4: 143,676,507 (GRCm39) |
I199T |
possibly damaging |
Het |
| Rcbtb1 |
T |
C |
14: 59,462,131 (GRCm39) |
L254P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsl1 |
A |
C |
13: 67,330,227 (GRCm39) |
H225P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,222 (GRCm39) |
I80V |
probably benign |
Het |
| Sema6a |
G |
T |
18: 47,423,222 (GRCm39) |
D261E |
probably damaging |
Het |
| Serpinb9b |
T |
A |
13: 33,223,806 (GRCm39) |
S333T |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,200,941 (GRCm39) |
V277A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,575 (GRCm39) |
H88L |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmprss15 |
T |
A |
16: 78,782,790 (GRCm39) |
N758I |
probably damaging |
Het |
| Ube3b |
C |
T |
5: 114,536,902 (GRCm39) |
A300V |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,192,542 (GRCm39) |
V40I |
probably benign |
Het |
| Vsig4 |
G |
T |
X: 95,291,378 (GRCm39) |
Q265K |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,865,977 (GRCm39) |
D525G |
probably damaging |
Het |
|
| Other mutations in Gpatch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Gpatch2
|
APN |
1 |
186,962,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02324:Gpatch2
|
APN |
1 |
186,957,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Gpatch2
|
APN |
1 |
186,965,325 (GRCm39) |
splice site |
probably benign |
|
|
IGL02583:Gpatch2
|
APN |
1 |
186,965,515 (GRCm39) |
splice site |
probably null |
|
|
IGL02583:Gpatch2
|
APN |
1 |
186,965,514 (GRCm39) |
splice site |
probably null |
|
|
R0100:Gpatch2
|
UTSW |
1 |
186,958,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Gpatch2
|
UTSW |
1 |
186,958,028 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1966:Gpatch2
|
UTSW |
1 |
187,054,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Gpatch2
|
UTSW |
1 |
187,054,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4028:Gpatch2
|
UTSW |
1 |
186,958,337 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4471:Gpatch2
|
UTSW |
1 |
186,965,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5346:Gpatch2
|
UTSW |
1 |
186,958,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6338:Gpatch2
|
UTSW |
1 |
186,957,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6936:Gpatch2
|
UTSW |
1 |
186,965,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7185:Gpatch2
|
UTSW |
1 |
186,958,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Gpatch2
|
UTSW |
1 |
186,964,963 (GRCm39) |
missense |
probably benign |
|
|
R7885:Gpatch2
|
UTSW |
1 |
186,957,698 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8508:Gpatch2
|
UTSW |
1 |
187,036,552 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9236:Gpatch2
|
UTSW |
1 |
186,965,977 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Gpatch2
|
UTSW |
1 |
186,963,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Gpatch2
|
UTSW |
1 |
187,054,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gpatch2
|
UTSW |
1 |
186,957,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation