Incidental Mutation 'IGL02947:Gpn3'
ID364775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpn3
Ensembl Gene ENSMUSG00000029464
Gene NameGPN-loop GTPase 3
SynonymsAtpbd1c, A930018B01Rik, D5Ertd708e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #IGL02947
Quality Score
Status
Chromosome5
Chromosomal Location122371876-122382902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122378488 bp
ZygosityHeterozygous
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]
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
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cpb2 A C 14: 75,283,318 Y391S probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Kpna7 T C 5: 144,994,074 I320M probably damaging Het
Lnpep T C 17: 17,570,972 T437A probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr446 A G 6: 42,927,896 I222V probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Tmem53 C T 4: 117,268,088 Q111* probably null Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Gpn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Gpn3 APN 5 122381265 missense probably benign 0.02
IGL02625:Gpn3 APN 5 122381194 missense probably damaging 0.98
R0125:Gpn3 UTSW 5 122381418 missense probably benign 0.01
R1171:Gpn3 UTSW 5 122378520 missense probably benign 0.00
R4434:Gpn3 UTSW 5 122382052 missense probably benign 0.01
R4435:Gpn3 UTSW 5 122382052 missense probably benign 0.01
R4673:Gpn3 UTSW 5 122373918 missense probably damaging 1.00
R4687:Gpn3 UTSW 5 122378575 missense possibly damaging 0.73
R4944:Gpn3 UTSW 5 122382240 intron probably benign
R6209:Gpn3 UTSW 5 122382112 missense probably benign
R6280:Gpn3 UTSW 5 122373959 missense probably benign 0.00
R6315:Gpn3 UTSW 5 122372575 start gained probably benign
R6319:Gpn3 UTSW 5 122372575 start gained probably benign
R6323:Gpn3 UTSW 5 122372575 start gained probably benign
R6324:Gpn3 UTSW 5 122372575 start gained probably benign
Posted On2015-12-18