Incidental Mutation 'R0100:Gpatch2'
| ID |
64121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch2
|
| Ensembl Gene |
ENSMUSG00000039210 |
| Gene Name |
G patch domain containing 2 |
| Synonyms |
5830433G22Rik, 5830436K05Rik, Gpatc2 |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 186958014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 123
(A123E)
|
| 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 damaging
Transcript: ENSMUST00000044812
AA Change: A123E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: A123E
| 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: ENSMUST00000065573
AA Change: A123E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: A123E
| 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 damaging
Transcript: ENSMUST00000110943
AA Change: A123E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: A123E
| 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: A123E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: A123E
| 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: A100E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: A100E
| 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 damaging
Transcript: ENSMUST00000160481
AA Change: A123E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: A123E
| 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 |
|
| Meta Mutation Damage Score |
0.1451 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGAGATCCTACAATGTTCACCAC -3'
(R):5'- TCCGGGTAAACTCTGGATACTGGC -3'
Sequencing Primer
(F):5'- TACAATGTTCACCACCCGTG -3'
(R):5'- TGCAGCCTTCTGGCAGC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation