Incidental Mutation 'R6532:Garnl3'
ID 522397
Institutional Source Beutler Lab
Gene Symbol Garnl3
Ensembl Gene ENSMUSG00000038860
Gene Name GTPase activating RANGAP domain-like 3
Synonyms
MMRRC Submission 044658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6532 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32876236-33021666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32921131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 298 (M298K)
Ref Sequence ENSEMBL: ENSMUSP00000122576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000137381]
AlphaFold Q3V0G7
Predicted Effect possibly damaging
Transcript: ENSMUST00000049618
AA Change: M257K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: M257K

DomainStartEndE-ValueType
Pfam:Rap_GAP 202 383 3.4e-73 PFAM
Pfam:CNH 475 780 3.5e-67 PFAM
low complexity region 793 804 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102810
AA Change: M253K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: M253K

DomainStartEndE-ValueType
Pfam:Rap_GAP 198 385 4.6e-67 PFAM
Pfam:CNH 471 776 1.8e-68 PFAM
low complexity region 789 800 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000137381
AA Change: M298K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150242
Predicted Effect unknown
Transcript: ENSMUST00000193171
AA Change: M76K
Meta Mutation Damage Score 0.9487 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Adal A G 2: 120,976,604 (GRCm39) probably null Het
Atr T A 9: 95,790,461 (GRCm39) N1600K probably benign Het
Cubn T C 2: 13,463,813 (GRCm39) T631A probably benign Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Ear1 C T 14: 44,056,709 (GRCm39) R53H probably benign Het
Exoc1 T C 5: 76,685,684 (GRCm39) V132A probably damaging Het
Fam227a C T 15: 79,520,921 (GRCm39) R301Q probably benign Het
Glb1l3 T C 9: 26,729,738 (GRCm39) D619G probably benign Het
Haspin A T 11: 73,028,377 (GRCm39) C237* probably null Het
Hook1 T G 4: 95,907,993 (GRCm39) probably null Het
Hoxa7 A G 6: 52,194,295 (GRCm39) F31L probably benign Het
Hoxb7 C A 11: 96,177,714 (GRCm39) S54* probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi207 A G 1: 173,557,211 (GRCm39) V516A possibly damaging Het
Inca1 T C 11: 70,586,733 (GRCm39) M1V probably null Het
Kcnt2 A G 1: 140,511,844 (GRCm39) T933A probably damaging Het
Lama4 G A 10: 38,924,073 (GRCm39) D494N possibly damaging Het
Lrp1 A C 10: 127,377,551 (GRCm39) H4133Q probably damaging Het
Lrp1 A G 10: 127,385,276 (GRCm39) F3542L probably damaging Het
Myo1f A G 17: 33,794,820 (GRCm39) D20G probably damaging Het
Nlk G T 11: 78,586,881 (GRCm39) A71E probably damaging Het
Nvl G A 1: 180,971,708 (GRCm39) probably null Het
Or9m1 A T 2: 87,733,546 (GRCm39) I158N probably damaging Het
Pakap T C 4: 57,855,174 (GRCm39) F168L probably benign Het
Pcnx1 C A 12: 82,027,738 (GRCm39) H1601N probably damaging Het
Pnkp T A 7: 44,506,829 (GRCm39) M1K probably null Het
Skic2 G A 17: 35,063,719 (GRCm39) R575C probably damaging Het
Slc25a54 A G 3: 109,019,368 (GRCm39) Y324C probably damaging Het
Tdrd3 A G 14: 87,743,252 (GRCm39) E400G probably damaging Het
Unc5b A G 10: 60,614,607 (GRCm39) I230T possibly damaging Het
Wfdc2 A G 2: 164,405,296 (GRCm39) T50A probably benign Het
Zfp563 A G 17: 33,324,672 (GRCm39) I422M probably benign Het
Other mutations in Garnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Garnl3 APN 2 32,896,828 (GRCm39) missense probably damaging 1.00
IGL01601:Garnl3 APN 2 32,887,701 (GRCm39) nonsense probably null
IGL01981:Garnl3 APN 2 32,887,741 (GRCm39) missense probably damaging 0.98
IGL02209:Garnl3 APN 2 32,975,942 (GRCm39) missense probably damaging 0.99
IGL02434:Garnl3 APN 2 32,944,217 (GRCm39) missense probably damaging 1.00
IGL02512:Garnl3 APN 2 32,921,150 (GRCm39) missense probably damaging 1.00
IGL02947:Garnl3 APN 2 32,936,606 (GRCm39) missense probably damaging 1.00
PIT4403001:Garnl3 UTSW 2 32,880,770 (GRCm39) missense probably damaging 1.00
R0123:Garnl3 UTSW 2 32,896,816 (GRCm39) missense possibly damaging 0.92
R0134:Garnl3 UTSW 2 32,896,816 (GRCm39) missense possibly damaging 0.92
R0225:Garnl3 UTSW 2 32,896,816 (GRCm39) missense possibly damaging 0.92
R0551:Garnl3 UTSW 2 32,906,750 (GRCm39) missense probably damaging 1.00
R0691:Garnl3 UTSW 2 32,975,919 (GRCm39) missense probably damaging 1.00
R0693:Garnl3 UTSW 2 32,975,919 (GRCm39) missense probably damaging 1.00
R0737:Garnl3 UTSW 2 32,880,654 (GRCm39) missense probably damaging 0.98
R1350:Garnl3 UTSW 2 32,942,226 (GRCm39) missense probably damaging 1.00
R1691:Garnl3 UTSW 2 32,887,675 (GRCm39) nonsense probably null
R1791:Garnl3 UTSW 2 32,924,139 (GRCm39) missense probably benign 0.02
R1938:Garnl3 UTSW 2 32,895,212 (GRCm39) missense probably damaging 0.99
R2100:Garnl3 UTSW 2 32,936,657 (GRCm39) missense probably benign 0.35
R2316:Garnl3 UTSW 2 32,895,164 (GRCm39) missense probably damaging 1.00
R2353:Garnl3 UTSW 2 32,954,046 (GRCm39) missense probably damaging 1.00
R3161:Garnl3 UTSW 2 32,924,723 (GRCm39) missense probably damaging 1.00
R3839:Garnl3 UTSW 2 32,879,558 (GRCm39) missense probably benign 0.00
R3847:Garnl3 UTSW 2 32,882,240 (GRCm39) missense probably benign
R4871:Garnl3 UTSW 2 32,977,100 (GRCm39) start codon destroyed probably null 0.77
R5682:Garnl3 UTSW 2 32,944,185 (GRCm39) missense probably damaging 1.00
R5811:Garnl3 UTSW 2 32,896,911 (GRCm39) missense probably damaging 0.99
R6267:Garnl3 UTSW 2 32,994,892 (GRCm39) missense probably benign 0.20
R6502:Garnl3 UTSW 2 32,896,833 (GRCm39) missense possibly damaging 0.67
R6639:Garnl3 UTSW 2 32,879,537 (GRCm39) missense possibly damaging 0.75
R6763:Garnl3 UTSW 2 32,944,208 (GRCm39) missense probably damaging 1.00
R6866:Garnl3 UTSW 2 32,892,785 (GRCm39) splice site probably null
R6913:Garnl3 UTSW 2 32,876,841 (GRCm39) missense possibly damaging 0.91
R7002:Garnl3 UTSW 2 32,944,205 (GRCm39) missense possibly damaging 0.65
R7168:Garnl3 UTSW 2 32,885,090 (GRCm39) missense probably damaging 1.00
R7341:Garnl3 UTSW 2 32,924,141 (GRCm39) missense probably damaging 1.00
R7746:Garnl3 UTSW 2 32,882,269 (GRCm39) missense probably damaging 1.00
R7919:Garnl3 UTSW 2 32,936,611 (GRCm39) missense probably benign 0.38
R8079:Garnl3 UTSW 2 32,908,511 (GRCm39) critical splice donor site probably null
R8087:Garnl3 UTSW 2 32,935,548 (GRCm39) missense probably benign 0.01
R8123:Garnl3 UTSW 2 32,994,950 (GRCm39) missense probably damaging 0.97
R8170:Garnl3 UTSW 2 32,905,235 (GRCm39) missense possibly damaging 0.88
R8347:Garnl3 UTSW 2 32,975,903 (GRCm39) missense probably damaging 1.00
R8418:Garnl3 UTSW 2 32,942,158 (GRCm39) missense possibly damaging 0.73
R8679:Garnl3 UTSW 2 32,916,106 (GRCm39) missense probably damaging 1.00
R8940:Garnl3 UTSW 2 32,895,241 (GRCm39) critical splice acceptor site probably null
R9081:Garnl3 UTSW 2 32,896,920 (GRCm39) missense possibly damaging 0.90
R9183:Garnl3 UTSW 2 32,895,080 (GRCm39) missense probably damaging 1.00
R9213:Garnl3 UTSW 2 32,895,080 (GRCm39) missense probably damaging 1.00
R9219:Garnl3 UTSW 2 32,975,898 (GRCm39) missense probably damaging 1.00
R9453:Garnl3 UTSW 2 32,893,881 (GRCm39) missense probably damaging 1.00
X0022:Garnl3 UTSW 2 32,912,680 (GRCm39) missense probably damaging 1.00
X0023:Garnl3 UTSW 2 32,916,161 (GRCm39) missense probably damaging 1.00
X0024:Garnl3 UTSW 2 32,895,191 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTGCCTGAATTGGTAGCTG -3'
(R):5'- GGAGCCTCGTTCGAAGTAAAG -3'

Sequencing Primer
(F):5'- CTGGTAACTGAAGTGGAGCTCAC -3'
(R):5'- GCCTCGTTCGAAGTAAAGAGTTAACC -3'
Posted On 2018-06-06