Incidental Mutation 'R1350:Garnl3'
ID 159508
Institutional Source Beutler Lab
Gene Symbol Garnl3
Ensembl Gene ENSMUSG00000038860
Gene Name GTPase activating RANGAP domain-like 3
Synonyms
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1350 (G1)
Quality Score 195
Status Validated
Chromosome 2
Chromosomal Location 32876236-33021666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32942226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
Ref Sequence ENSEMBL: ENSMUSP00000099874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000124000] [ENSMUST00000127509] [ENSMUST00000133135] [ENSMUST00000137381]
AlphaFold Q3V0G7
Predicted Effect probably damaging
Transcript: ENSMUST00000049618
AA Change: V89A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: V89A

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: V85A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: V85A

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 probably benign
Transcript: ENSMUST00000124000
SMART Domains Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127509
Predicted Effect probably benign
Transcript: ENSMUST00000133135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135296
Predicted Effect probably damaging
Transcript: ENSMUST00000137381
AA Change: V130A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148043
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Capn15 A G 17: 26,183,666 (GRCm39) S338P probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccn6 C T 10: 39,034,302 (GRCm39) C100Y probably damaging Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
Crb2 A G 2: 37,682,081 (GRCm39) N821D probably damaging Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nf1 T A 11: 79,303,513 (GRCm39) C397S probably damaging Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Tfb1m A T 17: 3,595,955 (GRCm39) D99E probably benign Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I 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
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'- AGGCGACATCAAACTCAAGTCAGG -3'
(R):5'- CAGCATCCAAAGAGCTGATGCAAAG -3'

Sequencing Primer
(F):5'- GGTACTTACTGTTTTCCGCCAAAG -3'
(R):5'- tctcgtccgtctcagcc -3'
Posted On 2014-03-14