Incidental Mutation 'R1966:Gpatch2'
ID 218906
Institutional Source Beutler Lab
Gene Symbol Gpatch2
Ensembl Gene ENSMUSG00000039210
Gene Name G patch domain containing 2
Synonyms 5830433G22Rik, 5830436K05Rik, Gpatc2
MMRRC Submission 039979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1966 (G1)
Quality Score 190
Status Not validated
Chromosome 1
Chromosomal Location 186947705-187083901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 187054498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 76 (D76E)
Ref Sequence ENSEMBL: ENSMUSP00000125750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]
AlphaFold Q7TQC7
Predicted Effect probably damaging
Transcript: ENSMUST00000065573
AA Change: D407E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: D407E

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: D384E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: D384E

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: D76E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210
AA Change: D76E

DomainStartEndE-ValueType
G_patch 133 179 3.95e-16 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,650 (GRCm39) V185E probably benign Het
Abca1 A C 4: 53,050,409 (GRCm39) V1608G probably damaging Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arhgef15 G T 11: 68,845,501 (GRCm39) P117Q probably damaging Het
Arhgef39 T C 4: 43,496,710 (GRCm39) S335G probably benign Het
Blm A T 7: 80,162,934 (GRCm39) F139Y possibly damaging Het
Cacna2d1 C T 5: 16,538,783 (GRCm39) R581* probably null Het
Cadps C A 14: 12,822,450 (GRCm38) E97* probably null Het
Cavin2 T A 1: 51,328,801 (GRCm39) L86Q probably damaging Het
Ccdc136 A G 6: 29,418,091 (GRCm39) E787G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cdh23 T C 10: 60,159,361 (GRCm39) Y2138C probably damaging Het
Cdk12 T A 11: 98,094,916 (GRCm39) Y241* probably null Het
Clcn4 T A 7: 7,287,184 (GRCm39) *688L probably null Het
Cntnap1 T C 11: 101,071,212 (GRCm39) V375A possibly damaging Het
Coq5 T A 5: 115,432,890 (GRCm39) probably null Het
Cyp4b1 A G 4: 115,483,076 (GRCm39) I405T probably benign Het
Det1 T C 7: 78,492,966 (GRCm39) Y346C probably damaging Het
Enpp3 A T 10: 24,683,389 (GRCm39) V276E probably damaging Het
Epb41l2 G A 10: 25,317,666 (GRCm39) R61Q probably benign Het
Fam76b G A 9: 13,739,362 (GRCm39) probably null Het
Fbxo45 A T 16: 32,052,048 (GRCm39) D238E probably benign Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gnao1 C A 8: 94,670,827 (GRCm39) T102K probably benign Het
Gpd1l A G 9: 114,743,462 (GRCm39) I146T probably benign Het
Grik2 A T 10: 49,232,005 (GRCm39) H508Q probably damaging Het
Hapstr1 A G 16: 8,648,445 (GRCm39) E41G possibly damaging Het
Hk3 A T 13: 55,162,268 (GRCm39) F112Y probably damaging Het
Hmcn2 T G 2: 31,279,341 (GRCm39) I1781S probably damaging Het
Inhba A T 13: 16,201,221 (GRCm39) K261M probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnj3 A T 2: 55,327,343 (GRCm39) Q44L probably damaging Het
Kcns1 G T 2: 164,010,455 (GRCm39) F101L probably damaging Het
Kdm5b T A 1: 134,541,611 (GRCm39) probably null Het
Klhl14 C T 18: 21,687,730 (GRCm39) G564D probably damaging Het
Klhl18 A T 9: 110,305,658 (GRCm39) V2E probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lama5 C A 2: 179,830,145 (GRCm39) C1896F probably damaging Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Lrch3 A G 16: 32,734,755 (GRCm39) T82A possibly damaging Het
Maml3 C G 3: 52,011,560 (GRCm39) G2A unknown Het
Mapkap1 T A 2: 34,408,691 (GRCm39) N34K probably damaging Het
Muc13 A T 16: 33,634,909 (GRCm39) I488F probably damaging Het
Muc5ac A G 7: 141,357,113 (GRCm39) D1129G possibly damaging Het
Nacc1 A T 8: 85,403,010 (GRCm39) N288K probably damaging Het
Nek1 T G 8: 61,469,330 (GRCm39) I129R probably damaging Het
Nf1 T A 11: 79,302,390 (GRCm39) S319R possibly damaging Het
Nle1 C T 11: 82,792,614 (GRCm39) G432D probably damaging Het
Nol4l A G 2: 153,371,375 (GRCm39) V103A probably benign Het
Oca2 A G 7: 56,064,215 (GRCm39) I737V probably damaging Het
Or12k5 A T 2: 36,894,960 (GRCm39) F222Y possibly damaging Het
Or1j17 G A 2: 36,578,796 (GRCm39) V261I probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or51l4 G T 7: 103,404,375 (GRCm39) T139K probably damaging Het
Or52ac1 A G 7: 104,246,008 (GRCm39) C127R probably damaging Het
Or6k6 G T 1: 173,944,817 (GRCm39) S255* probably null Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Orc1 T A 4: 108,469,414 (GRCm39) I746N probably damaging Het
Pbxip1 A G 3: 89,352,795 (GRCm39) D147G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin5 T A 17: 56,419,186 (GRCm39) D412V probably damaging Het
Plxna2 A T 1: 194,327,008 (GRCm39) Y314F possibly damaging Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Prss38 T C 11: 59,264,310 (GRCm39) Y219C probably damaging Het
Ptx3 C T 3: 66,132,042 (GRCm39) R188C probably damaging Het
Ralgds T A 2: 28,435,887 (GRCm39) V504E probably damaging Het
Rere T C 4: 150,701,330 (GRCm39) Y1237H probably damaging Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Rrp15 C T 1: 186,468,402 (GRCm39) V205I possibly damaging Het
Scpep1 A G 11: 88,843,240 (GRCm39) W73R probably damaging Het
Sec23ip A G 7: 128,357,077 (GRCm39) H376R probably damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Shtn1 T G 19: 58,963,470 (GRCm39) Y615S probably benign Het
Slc20a2 C A 8: 23,035,553 (GRCm39) P184T probably damaging Het
Slc22a29 C A 19: 8,195,772 (GRCm39) R89L probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Tas2r122 A T 6: 132,688,157 (GRCm39) Y245* probably null Het
Ticrr C A 7: 79,344,483 (GRCm39) C1449* probably null Het
Tmem181a T C 17: 6,353,501 (GRCm39) V412A probably benign Het
Tmtc4 T A 14: 123,165,011 (GRCm39) E616V probably benign Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Trpm8 T A 1: 88,260,470 (GRCm39) probably null Het
Ubr2 T C 17: 47,265,845 (GRCm39) T1163A probably benign Het
Ubr4 A G 4: 139,178,555 (GRCm39) probably null Het
Ulk2 A T 11: 61,710,297 (GRCm39) probably null Het
Ulk4 T A 9: 121,086,182 (GRCm39) M350L probably benign Het
Vmn1r185 T C 7: 26,310,956 (GRCm39) E183G probably benign Het
Vmn1r76 T A 7: 11,664,441 (GRCm39) I223F probably damaging Het
Wdr27 T C 17: 15,154,861 (GRCm39) T19A possibly damaging Het
Wdr59 T G 8: 112,177,535 (GRCm39) T973P possibly damaging Het
Wnk2 A G 13: 49,192,487 (GRCm39) S664P probably damaging Het
Zfp1004 T A 2: 150,033,827 (GRCm39) D49E probably benign Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp30 C A 7: 29,491,877 (GRCm39) Q44K probably benign Het
Zfp541 T C 7: 15,812,996 (GRCm39) S550P probably benign Het
Zw10 C A 9: 48,980,133 (GRCm39) N421K probably damaging Het
Other mutations in Gpatch2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCACTGCAGCTGTCAAGGAC -3'
(R):5'- TCATCCCTGGAAACCCTGAC -3'

Sequencing Primer
(F):5'- TGTCAAGGACAGGTTGCC -3'
(R):5'- CCTGACATGGGTTCTGACAAATAC -3'
Posted On 2014-08-25