Incidental Mutation 'IGL02947:Gpn3'
ID 364775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpn3
Ensembl Gene ENSMUSG00000029464
Gene Name GPN-loop GTPase 3
Synonyms D5Ertd708e, A930018B01Rik, Atpbd1c
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # IGL02947
Quality Score
Status
Chromosome 5
Chromosomal Location 122510571-122520834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122516551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000143405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031420] [ENSMUST00000127608] [ENSMUST00000146698]
AlphaFold Q9D3W4
Predicted Effect probably benign
Transcript: ENSMUST00000031420
AA Change: V60A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464
AA Change: V60A

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 254 5.5e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123537
AA Change: V19A
SMART Domains Protein: ENSMUSP00000120667
Gene: ENSMUSG00000029464
AA Change: V19A

DomainStartEndE-ValueType
Pfam:ATP_bind_1 1 112 2.2e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127608
AA Change: V60A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464
AA Change: V60A

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 189 1.2e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146698
Predicted Effect probably benign
Transcript: ENSMUST00000151173
SMART Domains Protein: ENSMUSP00000116560
Gene: ENSMUSG00000029464

DomainStartEndE-ValueType
Pfam:ATP_bind_1 1 70 6.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196642
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,957 (GRCm39) V13A probably benign Het
Atp8b5 T A 4: 43,305,774 (GRCm39) I106K possibly damaging Het
Cdh15 T C 8: 123,592,111 (GRCm39) S633P probably benign Het
Celsr3 A G 9: 108,723,134 (GRCm39) T228A probably benign Het
Cfap90 T A 13: 68,759,312 (GRCm39) F95L probably benign Het
Chrng A G 1: 87,137,606 (GRCm39) probably null Het
Coprs T C 8: 13,935,782 (GRCm39) E79G probably damaging Het
Cpb2 A C 14: 75,520,758 (GRCm39) Y391S probably damaging Het
Cyp2j8 A T 4: 96,358,815 (GRCm39) I368N probably damaging Het
Ddah1 T C 3: 145,464,842 (GRCm39) F76L probably benign Het
Eif2ak4 A G 2: 118,261,514 (GRCm39) T573A probably benign Het
Exoc6b T A 6: 84,835,411 (GRCm39) M375L probably benign Het
Fasn T C 11: 120,706,502 (GRCm39) E994G probably damaging Het
Fem1a T A 17: 56,565,640 (GRCm39) C578S probably benign Het
Garnl3 A G 2: 32,936,606 (GRCm39) S188P probably damaging Het
Hnrnpr A G 4: 136,043,690 (GRCm39) D59G probably damaging Het
Hydin A T 8: 111,145,094 (GRCm39) E815V probably damaging Het
Itga9 C T 9: 118,487,601 (GRCm39) T228M probably damaging Het
Kpna7 T C 5: 144,930,884 (GRCm39) I320M probably damaging Het
Lnpep T C 17: 17,791,234 (GRCm39) T437A probably damaging Het
Ltf C T 9: 110,868,015 (GRCm39) T48I probably benign Het
Masp1 T G 16: 23,313,476 (GRCm39) D153A probably damaging Het
Mcpt9 T A 14: 56,264,373 (GRCm39) R241* probably null Het
Msantd4 T A 9: 4,384,787 (GRCm39) S171T probably damaging Het
Nos1 G A 5: 118,081,382 (GRCm39) V1229M probably damaging Het
Npc1l1 A G 11: 6,179,246 (GRCm39) S55P probably benign Het
Oc90 T C 15: 65,759,983 (GRCm39) K212R probably benign Het
Or2a12 A G 6: 42,904,830 (GRCm39) I222V probably benign Het
Or5t15 C T 2: 86,681,130 (GRCm39) R304K probably benign Het
Or6c202 C A 10: 128,996,439 (GRCm39) C138F probably damaging Het
Prr12 T A 7: 44,697,980 (GRCm39) Q645L unknown Het
Psmd9 A G 5: 123,384,278 (GRCm39) I145V probably benign Het
Rbks T C 5: 31,817,407 (GRCm39) I121V probably benign Het
Rnase2b A T 14: 51,400,264 (GRCm39) Y115F probably damaging Het
Sarnp A G 10: 128,675,723 (GRCm39) E78G probably benign Het
Sltm A G 9: 70,498,946 (GRCm39) S1007G probably benign Het
Spata31d1c T A 13: 65,182,759 (GRCm39) Y100* probably null Het
Srrm2 T C 17: 24,029,720 (GRCm39) S222P probably benign Het
Sult3a1 G A 10: 33,740,046 (GRCm39) R35Q possibly damaging Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Tmem53 C T 4: 117,125,285 (GRCm39) Q111* probably null Het
Togaram1 T A 12: 65,068,274 (GRCm39) V1709D probably damaging Het
Trpm3 A T 19: 22,878,483 (GRCm39) D628V probably damaging Het
Ttn T A 2: 76,544,838 (GRCm39) K31009* probably null Het
Vldlr A G 19: 27,217,120 (GRCm39) I58V probably benign Het
Vmn1r4 T C 6: 56,934,231 (GRCm39) F245S probably benign Het
Vrtn T A 12: 84,695,258 (GRCm39) S3T probably damaging Het
Vwa7 A G 17: 35,242,476 (GRCm39) probably null Het
Wrnip1 T A 13: 33,006,053 (GRCm39) Y632N probably damaging Het
Other mutations in Gpn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Gpn3 APN 5 122,519,328 (GRCm39) missense probably benign 0.02
IGL02625:Gpn3 APN 5 122,519,257 (GRCm39) missense probably damaging 0.98
R0125:Gpn3 UTSW 5 122,519,481 (GRCm39) missense probably benign 0.01
R1171:Gpn3 UTSW 5 122,516,583 (GRCm39) missense probably benign 0.00
R4434:Gpn3 UTSW 5 122,520,115 (GRCm39) missense probably benign 0.01
R4435:Gpn3 UTSW 5 122,520,115 (GRCm39) missense probably benign 0.01
R4673:Gpn3 UTSW 5 122,511,981 (GRCm39) missense probably damaging 1.00
R4687:Gpn3 UTSW 5 122,516,638 (GRCm39) missense possibly damaging 0.73
R4944:Gpn3 UTSW 5 122,520,303 (GRCm39) intron probably benign
R6209:Gpn3 UTSW 5 122,520,175 (GRCm39) missense probably benign
R6280:Gpn3 UTSW 5 122,512,022 (GRCm39) missense probably benign 0.00
R6315:Gpn3 UTSW 5 122,510,638 (GRCm39) start gained probably benign
R6319:Gpn3 UTSW 5 122,510,638 (GRCm39) start gained probably benign
R6323:Gpn3 UTSW 5 122,510,638 (GRCm39) start gained probably benign
R6324:Gpn3 UTSW 5 122,510,638 (GRCm39) start gained probably benign
R9258:Gpn3 UTSW 5 122,519,508 (GRCm39) missense probably benign
R9664:Gpn3 UTSW 5 122,520,306 (GRCm39) missense
Posted On 2015-12-18