Incidental Mutation 'R2100:Garnl3'
ID 230405
Institutional Source Beutler Lab
Gene Symbol Garnl3
Ensembl Gene ENSMUSG00000038860
Gene Name GTPase activating RANGAP domain-like 3
Synonyms
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R2100 (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 C at 32936657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
Ref Sequence ENSEMBL: ENSMUSP00000122576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000137381]
AlphaFold Q3V0G7
Predicted Effect probably benign
Transcript: ENSMUST00000049618
AA Change: T130A

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: T130A

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 benign
Transcript: ENSMUST00000102810
AA Change: T126A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: T126A

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 noncoding transcript
Transcript: ENSMUST00000135296
Predicted Effect probably benign
Transcript: ENSMUST00000137381
AA Change: T171A

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139778
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
Arl5b G A 2: 15,078,006 (GRCm39) M101I probably benign Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fads2b T C 2: 85,330,593 (GRCm39) N238S probably damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Snx10 T C 6: 51,565,395 (GRCm39) Y171H probably damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp322a G A 13: 23,541,460 (GRCm39) S94L possibly damaging Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D probably damaging 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
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'- TCTAGAAGGGAATGCCTGGC -3'
(R):5'- CCTGATATGTTGAAGAGTTCTGCC -3'

Sequencing Primer
(F):5'- TGCCTGGCATGTCAATCAAG -3'
(R):5'- TTCTGCCCAGAACCAAAAATGTG -3'
Posted On 2014-09-18