Incidental Mutation 'R4028:Gpatch2'
ID 313072
Institutional Source Beutler Lab
Gene Symbol Gpatch2
Ensembl Gene ENSMUSG00000039210
Gene Name G patch domain containing 2
Synonyms 5830433G22Rik, 5830436K05Rik, Gpatc2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4028 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 186947705-187083901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 186958337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 231 (S231G)
Ref Sequence ENSEMBL: ENSMUSP00000137858 (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: S231G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: S231G

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: ENSMUST00000065573
AA Change: S231G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: S231G

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 benign
Transcript: ENSMUST00000110943
AA Change: S231G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: S231G

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 possibly damaging
Transcript: ENSMUST00000159748
AA Change: S231G

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: S231G

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: ENSMUST00000160471
AA Change: S208G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: S208G

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
AA Change: S231G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: S231G

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 noncoding transcript
Transcript: ENSMUST00000161260
Predicted Effect probably benign
Transcript: ENSMUST00000160570
SMART Domains Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210

DomainStartEndE-ValueType
G_patch 133 179 3.95e-16 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,531,725 (GRCm39) N503K probably damaging Het
Anapc2 T A 2: 25,167,750 (GRCm39) I439N probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Birc2 T C 9: 7,819,352 (GRCm39) N520S probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Clec1b G A 6: 129,378,774 (GRCm39) R87H probably benign Het
Cox7a2l A G 17: 83,810,069 (GRCm39) I123T probably benign Het
Cyp2j5 A T 4: 96,529,653 (GRCm39) Y239* probably null Het
Dnajc6 G A 4: 101,474,054 (GRCm39) C485Y probably damaging Het
Dync1i1 C T 6: 5,961,842 (GRCm39) S341F probably damaging Het
Fbln1 A G 15: 85,111,317 (GRCm39) N157S probably benign Het
Get1 T C 16: 95,946,784 (GRCm39) probably null Het
Grin2b T C 6: 135,713,433 (GRCm39) D816G probably damaging Het
Kndc1 T A 7: 139,509,941 (GRCm39) F1261Y probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Ntrk3 T C 7: 77,842,458 (GRCm39) E790G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4c3 T C 2: 89,851,567 (GRCm39) N281S probably damaging Het
Or52k2 A T 7: 102,254,500 (GRCm39) D313V possibly damaging Het
Pibf1 A G 14: 99,416,777 (GRCm39) E450G probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pkdrej A T 15: 85,701,693 (GRCm39) N1414K probably benign Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slc28a3 T C 13: 58,758,570 (GRCm39) S18G probably benign Het
Slc7a1 C A 5: 148,282,622 (GRCm39) C75F probably benign Het
Snrnp200 A G 2: 127,079,486 (GRCm39) D1865G probably damaging Het
Tnrc6a T A 7: 122,769,344 (GRCm39) I378N probably damaging Het
Trim3 A G 7: 105,267,452 (GRCm39) V309A probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Zdhhc11 T C 13: 74,125,390 (GRCm39) L210P 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
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
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'- ACAGCCTTGGGAACAGAACG -3'
(R):5'- TCATGTGGCAACTTCTAACTATCTG -3'

Sequencing Primer
(F):5'- CTTGGGAACAGAACGCTGCG -3'
(R):5'- GGCAACTTCTAACTATCTGAAACAG -3'
Posted On 2015-04-30