Incidental Mutation 'R6936:Gpatch2'
ID |
540274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch2
|
Ensembl Gene |
ENSMUSG00000039210 |
Gene Name |
G patch domain containing 2 |
Synonyms |
5830433G22Rik, 5830436K05Rik, Gpatc2 |
MMRRC Submission |
045050-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R6936 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 186965433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 313
(D313G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137801
(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: D313G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000048979 Gene: ENSMUSG00000039210 AA Change: D313G
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: D313G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000065009 Gene: ENSMUSG00000039210 AA Change: D313G
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 |
probably benign
Transcript: ENSMUST00000110943
AA Change: D313G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106568 Gene: ENSMUSG00000039210 AA Change: D313G
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 benign
Transcript: ENSMUST00000159748
|
SMART Domains |
Protein: ENSMUSP00000137858 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: ENSMUST00000160471
AA Change: D290G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000124407 Gene: ENSMUSG00000039210 AA Change: D290G
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: D313G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000137801 Gene: ENSMUSG00000039210 AA Change: D313G
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: ENSMUST00000160570
|
SMART Domains |
Protein: ENSMUSP00000125750 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
G_patch
|
133 |
179 |
3.95e-16 |
SMART |
|
Meta Mutation Damage Score |
0.1280 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
Validation Efficiency |
98% (48/49) |
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 |
Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
Cbfa2t3 |
C |
G |
8: 123,374,478 (GRCm39) |
R89P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,741 (GRCm39) |
D202N |
probably benign |
Het |
Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,798,148 (GRCm39) |
T46S |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,548 (GRCm39) |
S120P |
possibly damaging |
Het |
Tbpl2 |
T |
C |
2: 23,984,953 (GRCm39) |
T64A |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
IGL02632:Gpatch2
|
APN |
1 |
186,958,178 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTATCTGTTGCCATGAAGAAC -3'
(R):5'- TCACAGCAGGAGATGGCTAG -3'
Sequencing Primer
(F):5'- CTGTTGCCATGAAGAACTGACTCTG -3'
(R):5'- TAGGGCCCAGCAAGCTTCTC -3'
|
Posted On |
2018-11-06 |