Incidental Mutation 'R4687:Gpn3'
ID 353747
Institutional Source Beutler Lab
Gene Symbol Gpn3
Ensembl Gene ENSMUSG00000029464
Gene Name GPN-loop GTPase 3
Synonyms D5Ertd708e, A930018B01Rik, Atpbd1c
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 122510571-122520834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122516638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 89 (D89A)
Ref Sequence ENSEMBL: ENSMUSP00000031420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031420] [ENSMUST00000127608] [ENSMUST00000146698]
AlphaFold Q9D3W4
Predicted Effect possibly damaging
Transcript: ENSMUST00000031420
AA Change: D89A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464
AA Change: D89A

Pfam:ATP_bind_1 8 254 5.5e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123537
AA Change: D48A
SMART Domains Protein: ENSMUSP00000120667
Gene: ENSMUSG00000029464
AA Change: D48A

Pfam:ATP_bind_1 1 112 2.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127608
AA Change: D89A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464
AA Change: D89A

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

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,210,985 (GRCm39) Y45N probably damaging Het
Agbl3 T C 6: 34,775,261 (GRCm39) V189A probably damaging Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Amn A T 12: 111,242,502 (GRCm39) D439V probably benign Het
Arhgap17 T A 7: 122,920,826 (GRCm39) D149V probably damaging Het
Atp6v0a4 A T 6: 38,069,400 (GRCm39) I76N possibly damaging Het
Atp6v1h A T 1: 5,203,308 (GRCm39) N291I probably damaging Het
Baiap2l2 G T 15: 79,143,453 (GRCm39) P462T probably damaging Het
Bves C T 10: 45,230,936 (GRCm39) probably null Het
Cabp7 T A 11: 4,689,265 (GRCm39) K127* probably null Het
Cacna1h A G 17: 25,612,884 (GRCm39) V313A possibly damaging Het
Camkk2 T C 5: 122,891,787 (GRCm39) H245R probably damaging Het
Celsr1 T A 15: 85,816,661 (GRCm39) S1761C possibly damaging Het
Cfap46 T C 7: 139,207,372 (GRCm39) E1849G possibly damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Crim1 G T 17: 78,610,454 (GRCm39) C303F probably damaging Het
Cyp26c1 A G 19: 37,681,385 (GRCm39) Q396R probably damaging Het
Dnajc7 G A 11: 100,490,126 (GRCm39) P43L probably damaging Het
Dpf2 T C 19: 5,957,040 (GRCm39) H16R probably damaging Het
Dsp A G 13: 38,375,595 (GRCm39) T1127A probably damaging Het
Dst T C 1: 34,240,204 (GRCm39) L1525P probably damaging Het
Ehf T A 2: 103,097,471 (GRCm39) D192V probably damaging Het
Frem1 G T 4: 82,938,868 (GRCm39) N71K probably damaging Het
Furin T A 7: 80,043,195 (GRCm39) T339S probably benign Het
Gad1 T A 2: 70,431,064 (GRCm39) I569N possibly damaging Het
Gfi1 T C 5: 107,871,676 (GRCm39) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm39) noncoding transcript Homo
Gpr18 T A 14: 122,149,090 (GRCm39) R312* probably null Het
Gsap T C 5: 21,451,969 (GRCm39) probably benign Het
H2-Ab1 C A 17: 34,483,783 (GRCm39) T48K probably damaging Het
Hmcn2 A T 2: 31,328,297 (GRCm39) N4326I probably benign Het
Igkv4-51 A C 6: 69,658,714 (GRCm39) probably benign Het
Insr T C 8: 3,211,709 (GRCm39) H1104R probably benign Het
Ipo13 A T 4: 117,758,773 (GRCm39) N697K probably benign Het
Iqcm T G 8: 76,489,617 (GRCm39) F362V probably damaging Het
Irak4 T C 15: 94,464,704 (GRCm39) S425P probably damaging Het
Jakmip2 T C 18: 43,710,477 (GRCm39) E242G possibly damaging Het
Kdm4a T C 4: 118,001,280 (GRCm39) K829R probably damaging Het
Kdr T C 5: 76,129,452 (GRCm39) N145S possibly damaging Het
Klra9 A T 6: 130,162,480 (GRCm39) D185E probably benign Het
Lcn12 T C 2: 25,383,333 (GRCm39) N15S probably benign Het
Mei4 T A 9: 81,809,370 (GRCm39) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm39) S320T probably benign Het
Mrps5 C G 2: 127,432,690 (GRCm39) A37G probably benign Het
Mttp A G 3: 137,798,496 (GRCm39) I800T possibly damaging Het
Nags A T 11: 102,039,022 (GRCm39) Q451L probably damaging Het
Nbea T C 3: 55,965,486 (GRCm39) T476A probably damaging Het
Ndufb10 T C 17: 24,941,393 (GRCm39) E145G possibly damaging Het
Neb T G 2: 52,194,047 (GRCm39) S660R possibly damaging Het
Nppb A G 4: 148,070,753 (GRCm39) K43E probably benign Het
Nup188 A T 2: 30,220,645 (GRCm39) Q906L probably benign Het
Or10k2 T A 8: 84,268,489 (GRCm39) S239T probably damaging Het
Or4c12 T C 2: 89,774,213 (GRCm39) D82G probably damaging Het
Or8c17 C A 9: 38,180,710 (GRCm39) N292K probably damaging Het
Or9s23 T C 1: 92,501,052 (GRCm39) I53T possibly damaging Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Palm3 A G 8: 84,756,564 (GRCm39) E692G probably benign Het
Pcsk6 T C 7: 65,633,501 (GRCm39) F578L probably damaging Het
Piezo2 A C 18: 63,203,034 (GRCm39) D1535E probably damaging Het
Ppp1r15b T C 1: 133,059,873 (GRCm39) V130A probably benign Het
Proca1 T C 11: 78,095,724 (GRCm39) Y32H probably damaging Het
Prtg T A 9: 72,798,080 (GRCm39) V682E probably damaging Het
Pyroxd1 A T 6: 142,307,594 (GRCm39) M455L probably benign Het
Rasa1 T C 13: 85,374,754 (GRCm39) D739G possibly damaging Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Sepsecs T C 5: 52,801,213 (GRCm39) D483G probably benign Het
Setd7 T C 3: 51,457,776 (GRCm39) D17G probably damaging Het
Sipa1l2 C T 8: 126,217,984 (GRCm39) C451Y probably damaging Het
Slc31a1 A G 4: 62,306,939 (GRCm39) Y165C probably damaging Het
Smg5 T C 3: 88,249,776 (GRCm39) F68L possibly damaging Het
Sptbn5 A G 2: 119,907,689 (GRCm39) probably benign Het
Stk3 A G 15: 35,114,711 (GRCm39) I65T probably damaging Het
Tas2r115 C T 6: 132,714,247 (GRCm39) A235T possibly damaging Het
Tenm2 C T 11: 35,939,924 (GRCm39) A1400T probably benign Het
Tet1 T A 10: 62,674,570 (GRCm39) N1169Y probably benign Het
Treml2 T A 17: 48,616,425 (GRCm39) probably null Het
Tspan11 A G 6: 127,915,198 (GRCm39) E104G probably damaging Het
Wdtc1 G A 4: 133,023,742 (GRCm39) A543V probably damaging Het
Zfp148 T A 16: 33,317,189 (GRCm39) D578E probably damaging Het
Zfp735 A T 11: 73,602,682 (GRCm39) N542I probably damaging Het
Zfp735 A T 11: 73,602,681 (GRCm39) N542Y probably damaging Het
Zfp869 T A 8: 70,160,793 (GRCm39) E65D probably benign 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
IGL02947:Gpn3 APN 5 122,516,551 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-21