Incidental Mutation 'R0737:Garnl3'
ID 70496
Institutional Source Beutler Lab
Gene Symbol Garnl3
Ensembl Gene ENSMUSG00000038860
Gene Name GTPase activating RANGAP domain-like 3
Synonyms
MMRRC Submission 038918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0737 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32876236-33021666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32880654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 868 (I868F)
Ref Sequence ENSEMBL: ENSMUSP00000099874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000137381]
AlphaFold Q3V0G7
Predicted Effect probably damaging
Transcript: ENSMUST00000049618
AA Change: I872F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: I872F

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 probably damaging
Transcript: ENSMUST00000102810
AA Change: I868F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: I868F

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: I913F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik T A X: 69,437,813 (GRCm39) probably benign Het
Aff4 T A 11: 53,301,780 (GRCm39) L1043* probably null Het
Ankrd11 G T 8: 123,622,575 (GRCm39) R426S probably damaging Het
Atm T A 9: 53,367,866 (GRCm39) N2422I probably damaging Het
Bahcc1 C A 11: 120,163,667 (GRCm39) P655Q probably damaging Het
Baz2a A G 10: 127,951,949 (GRCm39) I556V possibly damaging Het
Ccdc33 T C 9: 57,989,331 (GRCm39) D114G probably damaging Het
Cdk5rap2 T C 4: 70,255,612 (GRCm39) H424R probably benign Het
Cfap57 T C 4: 118,438,299 (GRCm39) E864G possibly damaging Het
Cit T A 5: 116,084,978 (GRCm39) S836R probably damaging Het
Clip4 C T 17: 72,144,694 (GRCm39) Q95* probably null Het
Col17a1 C T 19: 47,657,872 (GRCm39) G433S possibly damaging Het
Col6a3 A G 1: 90,756,020 (GRCm39) F90L probably damaging Het
Cybc1 C T 11: 121,118,068 (GRCm39) probably null Het
Degs1l G A 1: 180,882,944 (GRCm39) M235I probably benign Het
Dnah9 T C 11: 65,998,724 (GRCm39) H1108R probably damaging Het
Elac1 A T 18: 73,872,110 (GRCm39) M295K probably damaging Het
Epas1 G T 17: 87,136,884 (GRCm39) G816C possibly damaging Het
Ermap C A 4: 119,035,707 (GRCm39) C427F probably damaging Het
Fbxo44 T C 4: 148,243,266 (GRCm39) probably benign Het
Fmo4 T A 1: 162,635,961 (GRCm39) K14* probably null Het
Gadl1 G A 9: 115,903,055 (GRCm39) M461I probably damaging Het
Gm7168 A G 17: 14,169,245 (GRCm39) D204G probably damaging Het
Hs6st3 T C 14: 120,106,795 (GRCm39) F401S possibly damaging Het
Kcnmb1 A T 11: 33,914,701 (GRCm39) M1L probably benign Het
Krt35 T C 11: 99,984,620 (GRCm39) T292A probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lamb2 T A 9: 108,360,993 (GRCm39) W572R probably benign Het
Letmd1 A G 15: 100,367,702 (GRCm39) T87A probably damaging Het
Lrp2 A G 2: 69,278,513 (GRCm39) Y3947H probably damaging Het
Mocos T C 18: 24,822,044 (GRCm39) F685L probably damaging Het
Nsun6 A T 2: 15,001,285 (GRCm39) F424I probably damaging Het
Nup88 A G 11: 70,860,776 (GRCm39) M1T probably null Het
Or13p5 C T 4: 118,592,421 (GRCm39) R232C probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c29 T C 2: 88,740,617 (GRCm39) N40S probably damaging Het
Pcdhb12 T A 18: 37,570,762 (GRCm39) V636D probably damaging Het
Pclo C A 5: 14,565,453 (GRCm39) A73E probably damaging Het
Pdlim7 A T 13: 55,652,693 (GRCm39) probably null Het
Phldb1 G A 9: 44,610,933 (GRCm39) P67S possibly damaging Het
Ppp2r2b T C 18: 43,192,257 (GRCm39) T17A probably benign Het
Ppp4r3c2 A G X: 88,797,926 (GRCm39) H586R probably benign Het
Rab11fip4 T C 11: 79,574,328 (GRCm39) V241A probably benign Het
Slc41a1 T C 1: 131,768,690 (GRCm39) L216P probably damaging Het
Slco1a8 G T 6: 141,949,154 (GRCm39) A74E possibly damaging Het
Smg6 T A 11: 75,050,662 (GRCm39) D1352E probably damaging Het
Tbc1d9 A T 8: 83,985,942 (GRCm39) I816F probably damaging Het
Tex264 T C 9: 106,536,498 (GRCm39) T220A probably benign Het
Tmco6 G A 18: 36,874,829 (GRCm39) V439I probably damaging Het
Tmem64 A G 4: 15,266,717 (GRCm39) I256V probably damaging Het
Tnks1bp1 A G 2: 84,882,880 (GRCm39) S236G possibly damaging Het
Tsc1 A G 2: 28,560,942 (GRCm39) T267A possibly damaging Het
Txndc2 A G 17: 65,946,548 (GRCm39) probably null Het
Vmn2r94 G A 17: 18,497,695 (GRCm39) Q26* probably null Het
Zan T C 5: 137,387,511 (GRCm39) D4900G unknown Het
Zkscan3 T C 13: 21,572,766 (GRCm39) T122A 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
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
R6532:Garnl3 UTSW 2 32,921,131 (GRCm39) missense possibly damaging 0.87
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'- GTGGGAAATGGTACAGTATTCTCTGGTG -3'
(R):5'- TGAGCCTAAAGTTCTGGTCTTTTCCGA -3'

Sequencing Primer
(F):5'- agccctctctccagccc -3'
(R):5'- CGAATTGTGTTTCAGGTGAAATTCAG -3'
Posted On 2013-09-30