Incidental Mutation 'IGL02324:Gpatch2'
ID288404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch2
Ensembl Gene ENSMUSG00000039210
Gene NameG patch domain containing 2
Synonyms5830433G22Rik, Gpatc2, 5830436K05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL02324
Quality Score
Status
Chromosome1
Chromosomal Location187215508-187351704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 187225739 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 97 (E97G)
Ref Sequence ENSEMBL: ENSMUSP00000137801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044812] [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000159748] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]
Predicted Effect probably damaging
Transcript: ENSMUST00000044812
AA Change: E97G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: E97G

DomainStartEndE-ValueType
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: E97G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: E97G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: E97G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: E97G

DomainStartEndE-ValueType
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: E97G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: E97G

DomainStartEndE-ValueType
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: E74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: E74G

DomainStartEndE-ValueType
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: E97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: E97G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
G_patch 133 179 3.95e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161260
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,497,874 C124S probably damaging Het
Aldh1a7 T C 19: 20,727,004 N42S probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
C1qb C A 4: 136,880,500 R184L possibly damaging Het
Cacna1s A G 1: 136,075,176 probably benign Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Copg2 C A 6: 30,863,534 probably null Het
Cyp2d40 A T 15: 82,760,948 probably benign Het
Cyp2j6 A G 4: 96,525,933 I365T probably damaging Het
Dhx29 A G 13: 112,927,808 K6E probably damaging Het
Dpp10 T A 1: 123,367,802 T539S probably benign Het
Ehbp1 A T 11: 22,096,048 I542K probably damaging Het
Fat1 A G 8: 45,040,556 Y3913C probably damaging Het
Flt4 C T 11: 49,645,995 T1264I probably benign Het
Fmnl1 A G 11: 103,179,538 D51G probably damaging Het
Gm17093 A G 14: 44,518,350 T25A unknown Het
Hcn1 T C 13: 117,902,886 L446P unknown Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Krtap16-1 C T 11: 99,986,303 V92M probably damaging Het
Med23 A T 10: 24,897,341 Q281L probably damaging Het
Megf8 T C 7: 25,340,448 S963P probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mycbp2 A G 14: 103,242,207 S1217P probably damaging Het
Myocd C A 11: 65,178,658 L785F probably benign Het
Nell2 T C 15: 95,229,101 T798A probably damaging Het
Nfat5 T C 8: 107,366,176 probably benign Het
Olfm5 T C 7: 104,154,095 probably null Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
P2ry1 A T 3: 61,003,778 N113Y possibly damaging Het
Pan3 A G 5: 147,530,123 probably null Het
Pappa A G 4: 65,196,808 R714G probably damaging Het
Plcd1 A G 9: 119,072,642 F579L probably damaging Het
Ptprb T C 10: 116,319,333 V664A probably benign Het
Slc27a5 T A 7: 12,997,560 Q168L probably benign Het
Spag8 T C 4: 43,651,781 E395G probably damaging Het
Stfa2l1 T C 16: 36,161,768 Y70H probably damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tnfrsf25 C A 4: 152,119,322 Q296K probably damaging Het
Trpm3 T A 19: 22,698,779 I103N probably benign Het
Other mutations in Gpatch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Gpatch2 APN 1 187230794 missense probably damaging 1.00
IGL02493:Gpatch2 APN 1 187233128 splice site probably benign
IGL02583:Gpatch2 APN 1 187233317 splice site probably null
IGL02583:Gpatch2 APN 1 187233318 splice site probably null
IGL02632:Gpatch2 APN 1 187225981 missense probably damaging 1.00
R0100:Gpatch2 UTSW 1 187225817 missense probably damaging 1.00
R1801:Gpatch2 UTSW 1 187225831 missense probably benign 0.03
R1966:Gpatch2 UTSW 1 187322301 missense probably damaging 1.00
R3870:Gpatch2 UTSW 1 187322294 missense probably damaging 1.00
R4028:Gpatch2 UTSW 1 187226140 missense possibly damaging 0.53
R4471:Gpatch2 UTSW 1 187233140 missense probably damaging 1.00
R5346:Gpatch2 UTSW 1 187225868 missense probably benign 0.00
R6338:Gpatch2 UTSW 1 187225514 missense probably damaging 0.99
R6936:Gpatch2 UTSW 1 187233236 missense probably benign 0.04
R7185:Gpatch2 UTSW 1 187226197 missense probably damaging 1.00
Posted On2015-04-16