Incidental Mutation 'R6280:Gpn3'
ID507892
Institutional Source Beutler Lab
Gene Symbol Gpn3
Ensembl Gene ENSMUSG00000029464
Gene NameGPN-loop GTPase 3
SynonymsAtpbd1c, A930018B01Rik, D5Ertd708e
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #R6280 (G1)
Quality Score217.009
Status Validated
Chromosome5
Chromosomal Location122371876-122382902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122373959 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 33 (S33T)
Ref Sequence ENSEMBL: ENSMUSP00000031420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000031420] [ENSMUST00000127608]
Predicted Effect probably benign
Transcript: ENSMUST00000031419
SMART Domains Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

DomainStartEndE-ValueType
Pfam:FAM216B 50 160 6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031420
AA Change: S33T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464
AA Change: S33T

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 254 5.5e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123537
SMART Domains Protein: ENSMUSP00000120667
Gene: ENSMUSG00000029464

DomainStartEndE-ValueType
Pfam:ATP_bind_1 1 112 2.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127608
AA Change: S33T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464
AA Change: S33T

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 189 1.2e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196642
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,057 S534P probably damaging Het
4930452B06Rik T G 14: 8,473,414 probably null Het
Abca12 C T 1: 71,272,460 D1930N probably benign Het
Adam8 A G 7: 139,984,807 L667S probably damaging Het
Adcy4 A T 14: 55,779,043 I317N probably damaging Het
Agpat3 A G 10: 78,285,038 F102S probably damaging Het
Apbb2 A T 5: 66,364,982 W443R probably damaging Het
BC049715 T A 6: 136,840,231 Y156* probably null Het
Bpifc C T 10: 85,977,712 V323I probably benign Het
Camp T G 9: 109,847,509 I149L probably benign Het
Cnih1 A G 14: 46,788,177 probably null Het
Col18a1 A T 10: 77,112,489 probably benign Het
Dsg4 A T 18: 20,466,667 D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 V442I probably benign Het
Fam83g G T 11: 61,703,182 S514I probably benign Het
Fam92b A G 8: 120,172,119 I94T possibly damaging Het
Fbxo7 A G 10: 86,029,105 N93D probably benign Het
Fgf20 G T 8: 40,281,112 S76* probably null Het
Foxi1 A G 11: 34,207,972 F18L probably damaging Het
Fxr1 G A 3: 34,046,252 probably benign Het
Gon4l T A 3: 88,890,888 L800H probably damaging Het
Gria4 T C 9: 4,456,072 M743V probably damaging Het
Hira A G 16: 18,910,707 N109D probably damaging Het
Hsd3b3 A G 3: 98,753,305 probably null Het
Hsf2 T G 10: 57,511,495 S370A probably benign Het
Htt T A 5: 34,870,759 D1786E probably benign Het
Ifit1bl2 T A 19: 34,620,134 R27S possibly damaging Het
Il17rb G A 14: 30,002,971 A186V probably benign Het
Irak4 G T 15: 94,551,810 E57* probably null Het
Kcnh2 T A 5: 24,331,923 H221L probably benign Het
Kdm2b T C 5: 122,878,624 N1149D probably damaging Het
Kif26a A G 12: 112,174,869 H702R probably damaging Het
Kmt2e T C 5: 23,499,516 S1236P possibly damaging Het
Krt77 T A 15: 101,865,475 D248V probably damaging Het
Lgals3bp T C 11: 118,393,280 N52S possibly damaging Het
Lhfp T C 3: 53,260,514 Y170H probably damaging Het
Lpin2 A G 17: 71,232,248 probably benign Het
Lrig3 T C 10: 126,010,979 I872T probably benign Het
Lrit3 T C 3: 129,788,763 E525G probably damaging Het
Lrp1 T C 10: 127,589,584 T726A probably benign Het
Mep1a A T 17: 43,502,392 N46K probably damaging Het
Muc16 C A 9: 18,579,317 probably null Het
N4bp1 A C 8: 86,853,166 N669K possibly damaging Het
Nelfcd A G 2: 174,415,946 D26G probably benign Het
Neu4 G A 1: 94,025,151 S414N probably damaging Het
Nudt9 A G 5: 104,065,069 D336G probably benign Het
Obscn C A 11: 59,063,683 G3691V possibly damaging Het
Olfr1102 A G 2: 87,002,020 N17S probably damaging Het
Olfr1263 A C 2: 90,015,049 I40L possibly damaging Het
Pdgfd T A 9: 6,288,627 S94T probably benign Het
Picalm A G 7: 90,177,562 H290R probably benign Het
Pou2f3 A T 9: 43,139,339 L242Q probably damaging Het
Pou2f3 G T 9: 43,139,340 L242M probably damaging Het
Prkd3 C T 17: 78,981,931 G187D probably damaging Het
Pwp1 A G 10: 85,874,462 S49G probably damaging Het
Ralgapa2 A G 2: 146,342,209 L1626P probably damaging Het
Rin2 A G 2: 145,861,019 Y545C probably damaging Het
Rwdd4a A G 8: 47,542,797 T71A probably benign Het
Senp7 T C 16: 56,162,375 F504L possibly damaging Het
Slc12a6 A G 2: 112,337,358 T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Slc17a2 A G 13: 23,822,394 S468G probably benign Het
Slc4a10 A G 2: 62,281,966 N697S probably benign Het
Spint1 T A 2: 119,245,278 V194E possibly damaging Het
Sptlc2 A T 12: 87,388,131 M14K probably benign Het
Stard9 A G 2: 120,701,127 K2622E probably benign Het
Tbc1d5 T C 17: 50,782,310 N614S probably benign Het
Tdpoz2 A T 3: 93,651,883 C261S probably benign Het
Tmem150b A T 7: 4,724,374 I44N probably benign Het
Ttn A G 2: 76,778,158 L17807P probably damaging Het
Vcan G A 13: 89,725,373 R121W probably damaging Het
Vmn2r15 T A 5: 109,293,425 H189L possibly damaging Het
Vmn2r19 A G 6: 123,336,253 S761G probably benign Het
Wdr11 A T 7: 129,599,106 K34* probably null Het
Zfp120 A T 2: 150,118,044 S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 P740A probably benign 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
IGL02947:Gpn3 APN 5 122378488 missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AGATCTGCAGCTCTGGTCTC -3'
(R):5'- TTAGAGTCTCCCAGCAAAGACC -3'

Sequencing Primer
(F):5'- GCAGCTCTGGTCTCATCGC -3'
(R):5'- CCATGAAATGGCCCGTGG -3'
Posted On2018-03-15