Incidental Mutation 'R3870:Gpatch2'
ID276483
Institutional Source Beutler Lab
Gene Symbol Gpatch2
Ensembl Gene ENSMUSG00000039210
Gene NameG patch domain containing 2
Synonyms5830433G22Rik, Gpatc2, 5830436K05Rik
MMRRC Submission 040789-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #R3870 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location187215508-187351704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 187322294 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 74 (L74Q)
Ref Sequence ENSEMBL: ENSMUSP00000125750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]
Predicted Effect probably damaging
Transcript: ENSMUST00000065573
AA Change: L405Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: L405Q

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 probably benign
Transcript: ENSMUST00000110943
SMART Domains Protein: ENSMUSP00000106568
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
G_patch 427 473 3.95e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160471
AA Change: L382Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: L382Q

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 benign
Transcript: ENSMUST00000160481
SMART Domains Protein: ENSMUSP00000137801
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: ENSMUST00000160570
AA Change: L74Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210
AA Change: L74Q

DomainStartEndE-ValueType
G_patch 133 179 3.95e-16 SMART
Meta Mutation Damage Score 0.098 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 44,231,404 probably null Het
2410089E03Rik A T 15: 8,218,464 K1499M probably damaging Het
Adam22 C A 5: 8,132,418 C514F probably damaging Het
Akap8 G A 17: 32,317,839 probably benign Het
Armcx2 A T X: 134,806,299 V195E probably benign Het
Atg7 T C 6: 114,697,047 S301P possibly damaging Het
Cc2d2a C A 5: 43,718,691 Y1003* probably null Het
Ccdc93 A G 1: 121,463,114 S272G probably benign Het
Ces1d C G 8: 93,175,086 L418F probably benign Het
Cntnap5a A G 1: 116,060,249 E170G probably damaging Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Ehd4 T A 2: 120,136,953 D120V probably damaging Het
Eif4g3 T A 4: 138,096,900 V71E probably damaging Het
Exoc5 A G 14: 49,019,396 probably benign Het
Glud1 T A 14: 34,325,580 probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,845,205 probably null Het
Gm11555 G T 11: 99,649,990 C64* probably null Het
Gm5468 A G 15: 25,414,475 probably benign Het
Hnrnpa0 G A 13: 58,127,899 R139C probably damaging Het
Hrh1 A G 6: 114,480,919 Y387C probably damaging Het
Ldb3 A T 14: 34,567,483 D216E probably damaging Het
Lingo1 A T 9: 56,619,725 S533T probably benign Het
Lmtk2 T G 5: 144,166,427 probably benign Het
Map1s A G 8: 70,917,101 E939G possibly damaging Het
Mast1 G A 8: 84,918,731 T695I probably damaging Het
Mettl21e G A 1: 44,206,364 R241W probably benign Het
Mfsd4a G A 1: 132,046,353 T261I probably damaging Het
Mmel1 T C 4: 154,883,638 S144P probably benign Het
Myo16 A T 8: 10,442,239 H727L probably benign Het
Ncoa6 T C 2: 155,415,557 probably null Het
Nipa2 T C 7: 55,932,942 R352G probably damaging Het
Oaf C T 9: 43,222,758 R222Q probably benign Het
Olfr701 T A 7: 106,818,840 Y252* probably null Het
Pard3 T C 8: 127,409,686 S847P probably damaging Het
Pgbd1 C T 13: 21,434,370 R39H possibly damaging Het
Plcb1 A C 2: 135,325,671 I462L probably damaging Het
Prex2 T C 1: 11,160,192 V814A possibly damaging Het
Rasal3 G A 17: 32,393,548 R780W possibly damaging Het
Rubcnl C T 14: 75,040,916 P380L probably benign Het
Ryk A G 9: 102,891,228 E359G probably damaging Het
Sall2 C A 14: 52,313,994 L579F probably damaging Het
Satb2 A G 1: 56,891,220 S215P probably damaging Het
Scg3 T C 9: 75,675,499 probably benign Het
Slc35f5 A G 1: 125,562,361 T65A probably benign Het
Snx33 T C 9: 56,926,740 N15S probably benign Het
Stat2 T A 10: 128,277,893 S180R probably benign Het
Stxbp2 A G 8: 3,634,079 T129A probably damaging Het
Tas1r3 A T 4: 155,861,353 C529S probably damaging Het
Tlr12 T A 4: 128,616,568 M630L probably benign Het
Tnfrsf10b T G 14: 69,773,456 D103E probably benign Het
Togaram1 A C 12: 65,002,645 E1285D probably benign Het
Tppp A G 13: 74,030,772 T111A probably benign Het
Trim12c T C 7: 104,348,337 Q4R probably benign Het
Ttbk2 T G 2: 120,740,019 S1149R probably damaging Het
Uncx T C 5: 139,547,365 L395P probably damaging Het
Usp14 A G 18: 10,002,370 S314P possibly damaging Het
Usp32 A T 11: 85,007,055 Y1153* probably null Het
Vmn2r6 T C 3: 64,556,621 E264G probably damaging Het
Vmn2r77 T C 7: 86,811,842 F792S probably damaging Het
Vps13c A G 9: 67,884,726 I425V probably benign Het
Vstm4 C T 14: 32,863,755 A93V probably benign Het
Xrcc6 T A 15: 82,025,684 S97T probably benign Het
Zscan20 A G 4: 128,586,425 C758R probably damaging Het
Other mutations in Gpatch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Gpatch2 APN 1 187230794 missense probably damaging 1.00
IGL02324:Gpatch2 APN 1 187225739 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
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
Predicted Primers PCR Primer
(F):5'- AGTCACTGCAGCTGTCAAG -3'
(R):5'- ATCCCTGGAAACCCTGACATG -3'

Sequencing Primer
(F):5'- TGTCAAGGACAGGTTGCC -3'
(R):5'- GGGTTCTGACAAATACTACACCGTTC -3'
Posted On2015-04-06