Incidental Mutation 'IGL00743:Adgrg6'
ID11092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrg6
Ensembl Gene ENSMUSG00000039116
Gene Nameadhesion G protein-coupled receptor G6
SynonymsLOC215798, 1190004A11Rik, DREG, Gpr126
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00743
Quality Score
Status
Chromosome10
Chromosomal Location14402583-14545659 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 14535959 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]
Predicted Effect probably benign
Transcript: ENSMUST00000041168
SMART Domains Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
CUB 41 149 8.59e-33 SMART
low complexity region 609 620 N/A INTRINSIC
low complexity region 695 706 N/A INTRINSIC
GPS 769 822 2.48e-12 SMART
Pfam:7tm_2 831 1080 4.1e-52 PFAM
low complexity region 1122 1154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207953
Predicted Effect probably benign
Transcript: ENSMUST00000208429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208905
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Adgrg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Adgrg6 APN 10 14467450 missense probably damaging 0.99
IGL00428:Adgrg6 APN 10 14467375 missense probably benign
IGL00489:Adgrg6 APN 10 14440403 splice site probably null
IGL00496:Adgrg6 APN 10 14450578 critical splice donor site probably null
IGL01011:Adgrg6 APN 10 14409798 missense probably damaging 0.96
IGL01291:Adgrg6 APN 10 14410530 missense possibly damaging 0.92
IGL01453:Adgrg6 APN 10 14420458 missense possibly damaging 0.94
IGL01594:Adgrg6 APN 10 14434340 missense probably damaging 1.00
IGL02013:Adgrg6 APN 10 14426811 missense probably damaging 0.98
IGL02037:Adgrg6 APN 10 14441441 missense probably damaging 0.98
IGL02070:Adgrg6 APN 10 14467592 missense probably damaging 1.00
IGL02164:Adgrg6 APN 10 14523555 intron probably benign
IGL02262:Adgrg6 APN 10 14441396 missense probably benign 0.00
IGL02272:Adgrg6 APN 10 14468829 missense probably damaging 1.00
IGL02605:Adgrg6 APN 10 14467232 missense probably damaging 1.00
IGL02800:Adgrg6 APN 10 14420605 missense probably damaging 1.00
IGL03175:Adgrg6 APN 10 14439758 missense probably benign 0.04
ANU05:Adgrg6 UTSW 10 14410530 missense possibly damaging 0.92
R0245:Adgrg6 UTSW 10 14458066 splice site probably benign
R0356:Adgrg6 UTSW 10 14426898 missense possibly damaging 0.47
R0388:Adgrg6 UTSW 10 14450658 missense probably benign 0.00
R0508:Adgrg6 UTSW 10 14450616 missense probably benign 0.32
R0626:Adgrg6 UTSW 10 14436884 missense probably damaging 1.00
R1116:Adgrg6 UTSW 10 14438428 missense probably benign 0.00
R1205:Adgrg6 UTSW 10 14434339 missense probably damaging 1.00
R1438:Adgrg6 UTSW 10 14468841 missense possibly damaging 0.68
R1599:Adgrg6 UTSW 10 14467313 nonsense probably null
R1714:Adgrg6 UTSW 10 14439770 missense possibly damaging 0.64
R1728:Adgrg6 UTSW 10 14439782 missense probably damaging 1.00
R1729:Adgrg6 UTSW 10 14439782 missense probably damaging 1.00
R1784:Adgrg6 UTSW 10 14439782 missense probably damaging 1.00
R2124:Adgrg6 UTSW 10 14467186 missense probably damaging 0.98
R2906:Adgrg6 UTSW 10 14432950 missense probably benign 0.03
R3410:Adgrg6 UTSW 10 14440370 missense probably benign 0.10
R3982:Adgrg6 UTSW 10 14448845 missense probably benign 0.10
R4376:Adgrg6 UTSW 10 14438494 missense probably benign 0.02
R4376:Adgrg6 UTSW 10 14469050 missense probably damaging 1.00
R4445:Adgrg6 UTSW 10 14409763 missense probably damaging 1.00
R4446:Adgrg6 UTSW 10 14409763 missense probably damaging 1.00
R4472:Adgrg6 UTSW 10 14436781 missense probably damaging 1.00
R4622:Adgrg6 UTSW 10 14441499 missense probably damaging 1.00
R4623:Adgrg6 UTSW 10 14441499 missense probably damaging 1.00
R4649:Adgrg6 UTSW 10 14468827 missense probably damaging 1.00
R4882:Adgrg6 UTSW 10 14434337 missense possibly damaging 0.88
R4978:Adgrg6 UTSW 10 14420461 missense probably damaging 1.00
R5246:Adgrg6 UTSW 10 14426765 missense probably damaging 1.00
R5420:Adgrg6 UTSW 10 14426986 nonsense probably null
R5461:Adgrg6 UTSW 10 14420504 missense probably damaging 1.00
R5580:Adgrg6 UTSW 10 14410484 nonsense probably null
R5644:Adgrg6 UTSW 10 14432934 missense probably damaging 1.00
R5847:Adgrg6 UTSW 10 14426777 missense probably damaging 1.00
R5900:Adgrg6 UTSW 10 14438419 critical splice donor site probably null
R6302:Adgrg6 UTSW 10 14441483 missense probably benign 0.22
R6318:Adgrg6 UTSW 10 14467497 missense probably benign
R6319:Adgrg6 UTSW 10 14431622 missense probably damaging 1.00
R6339:Adgrg6 UTSW 10 14434347 missense probably damaging 1.00
R6683:Adgrg6 UTSW 10 14456167 missense probably damaging 0.97
R6983:Adgrg6 UTSW 10 14431695 missense probably damaging 1.00
R7337:Adgrg6 UTSW 10 14467351 missense possibly damaging 0.82
R7378:Adgrg6 UTSW 10 14535892 missense probably benign 0.16
R7463:Adgrg6 UTSW 10 14434396 missense possibly damaging 0.82
R7470:Adgrg6 UTSW 10 14444066 missense probably benign
R7558:Adgrg6 UTSW 10 14431607 missense probably damaging 1.00
R7593:Adgrg6 UTSW 10 14468829 missense probably damaging 1.00
R7747:Adgrg6 UTSW 10 14450577 critical splice donor site probably null
R7768:Adgrg6 UTSW 10 14431666 missense probably benign 0.00
R7962:Adgrg6 UTSW 10 14420684 missense probably damaging 1.00
R8049:Adgrg6 UTSW 10 14428199 missense probably benign 0.00
R8059:Adgrg6 UTSW 10 14469050 missense probably damaging 0.99
R8373:Adgrg6 UTSW 10 14467334 missense probably benign 0.03
R8406:Adgrg6 UTSW 10 14467338 missense probably benign 0.05
Posted On2012-12-06