Incidental Mutation 'IGL00428:Adgrg6'
ID 4762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrg6
Ensembl Gene ENSMUSG00000039116
Gene Name adhesion G protein-coupled receptor G6
Synonyms 1190004A11Rik, DREG, LOC215798, Gpr126
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00428
Quality Score
Status
Chromosome 10
Chromosomal Location 14278327-14421403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14343119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 276 (P276L)
Ref Sequence ENSEMBL: ENSMUSP00000146821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]
AlphaFold Q6F3F9
Predicted Effect probably benign
Transcript: ENSMUST00000041168
AA Change: P276L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: P276L

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 probably benign
Transcript: ENSMUST00000208429
AA Change: P276L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 G A 15: 63,991,803 (GRCm39) probably benign Het
Axl T C 7: 25,460,297 (GRCm39) T723A probably damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bltp1 A G 3: 37,065,876 (GRCm39) N3491S probably benign Het
Capn7 A G 14: 31,085,535 (GRCm39) K503E probably benign Het
Cbln4 A G 2: 171,880,970 (GRCm39) V108A probably benign Het
Ccdc71 C T 9: 108,341,354 (GRCm39) T389M probably damaging Het
Ccdc91 A G 6: 147,508,452 (GRCm39) T393A unknown Het
Cdh20 A T 1: 104,881,612 (GRCm39) H359L probably benign Het
Cfap119 A T 7: 127,184,210 (GRCm39) S229T probably damaging Het
Coro7 C T 16: 4,452,500 (GRCm39) V364M possibly damaging Het
Ctsq A T 13: 61,185,528 (GRCm39) N204K probably damaging Het
Dnaja3 C T 16: 4,512,309 (GRCm39) R238C probably damaging Het
Dynlt1a C T 17: 6,362,062 (GRCm39) V39I possibly damaging Het
Gp1ba A G 11: 70,531,478 (GRCm39) probably benign Het
Gtf3c3 T C 1: 54,455,114 (GRCm39) Y583C probably damaging Het
Invs T C 4: 48,402,909 (GRCm39) F514S probably damaging Het
Kif23 A T 9: 61,833,750 (GRCm39) C484S probably benign Het
Masp1 A G 16: 23,295,062 (GRCm39) Y400H probably damaging Het
Olfml3 G A 3: 103,644,298 (GRCm39) probably null Het
Pard3b T C 1: 62,200,357 (GRCm39) S299P probably damaging Het
Pcdhb16 A T 18: 37,611,623 (GRCm39) E194D possibly damaging Het
Pip5k1c A T 10: 81,141,545 (GRCm39) T78S probably benign Het
Septin11 T C 5: 93,304,877 (GRCm39) probably null Het
Septin8 A G 11: 53,422,823 (GRCm39) N11D probably benign Het
Slc10a6 G A 5: 103,760,362 (GRCm39) T211I probably benign Het
Smim8 T C 4: 34,769,006 (GRCm39) T93A probably benign Het
Tg A G 15: 66,645,273 (GRCm39) I774M probably benign Het
Tulp4 A G 17: 6,189,351 (GRCm39) T58A probably damaging Het
Virma T C 4: 11,519,424 (GRCm39) probably benign Het
Wdr62 T C 7: 29,970,177 (GRCm39) D210G probably damaging Het
Zfp984 C T 4: 147,839,343 (GRCm39) G503S probably benign Het
Other mutations in Adgrg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Adgrg6 APN 10 14,343,194 (GRCm39) missense probably damaging 0.99
IGL00489:Adgrg6 APN 10 14,316,147 (GRCm39) splice site probably null
IGL00496:Adgrg6 APN 10 14,326,322 (GRCm39) critical splice donor site probably null
IGL00743:Adgrg6 APN 10 14,411,703 (GRCm39) splice site probably benign
IGL01011:Adgrg6 APN 10 14,285,542 (GRCm39) missense probably damaging 0.96
IGL01291:Adgrg6 APN 10 14,286,274 (GRCm39) missense possibly damaging 0.92
IGL01453:Adgrg6 APN 10 14,296,202 (GRCm39) missense possibly damaging 0.94
IGL01594:Adgrg6 APN 10 14,310,084 (GRCm39) missense probably damaging 1.00
IGL02013:Adgrg6 APN 10 14,302,555 (GRCm39) missense probably damaging 0.98
IGL02037:Adgrg6 APN 10 14,317,185 (GRCm39) missense probably damaging 0.98
IGL02070:Adgrg6 APN 10 14,343,336 (GRCm39) missense probably damaging 1.00
IGL02164:Adgrg6 APN 10 14,399,299 (GRCm39) intron probably benign
IGL02262:Adgrg6 APN 10 14,317,140 (GRCm39) missense probably benign 0.00
IGL02272:Adgrg6 APN 10 14,344,573 (GRCm39) missense probably damaging 1.00
IGL02605:Adgrg6 APN 10 14,342,976 (GRCm39) missense probably damaging 1.00
IGL02800:Adgrg6 APN 10 14,296,349 (GRCm39) missense probably damaging 1.00
IGL03175:Adgrg6 APN 10 14,315,502 (GRCm39) missense probably benign 0.04
ANU05:Adgrg6 UTSW 10 14,286,274 (GRCm39) missense possibly damaging 0.92
R0245:Adgrg6 UTSW 10 14,333,810 (GRCm39) splice site probably benign
R0356:Adgrg6 UTSW 10 14,302,642 (GRCm39) missense possibly damaging 0.47
R0388:Adgrg6 UTSW 10 14,326,402 (GRCm39) missense probably benign 0.00
R0508:Adgrg6 UTSW 10 14,326,360 (GRCm39) missense probably benign 0.32
R0626:Adgrg6 UTSW 10 14,312,628 (GRCm39) missense probably damaging 1.00
R1116:Adgrg6 UTSW 10 14,314,172 (GRCm39) missense probably benign 0.00
R1205:Adgrg6 UTSW 10 14,310,083 (GRCm39) missense probably damaging 1.00
R1438:Adgrg6 UTSW 10 14,344,585 (GRCm39) missense possibly damaging 0.68
R1599:Adgrg6 UTSW 10 14,343,057 (GRCm39) nonsense probably null
R1714:Adgrg6 UTSW 10 14,315,514 (GRCm39) missense possibly damaging 0.64
R1728:Adgrg6 UTSW 10 14,315,526 (GRCm39) missense probably damaging 1.00
R1729:Adgrg6 UTSW 10 14,315,526 (GRCm39) missense probably damaging 1.00
R1784:Adgrg6 UTSW 10 14,315,526 (GRCm39) missense probably damaging 1.00
R2124:Adgrg6 UTSW 10 14,342,930 (GRCm39) missense probably damaging 0.98
R2906:Adgrg6 UTSW 10 14,308,694 (GRCm39) missense probably benign 0.03
R3410:Adgrg6 UTSW 10 14,316,114 (GRCm39) missense probably benign 0.10
R3982:Adgrg6 UTSW 10 14,324,589 (GRCm39) missense probably benign 0.10
R4376:Adgrg6 UTSW 10 14,344,794 (GRCm39) missense probably damaging 1.00
R4376:Adgrg6 UTSW 10 14,314,238 (GRCm39) missense probably benign 0.02
R4445:Adgrg6 UTSW 10 14,285,507 (GRCm39) missense probably damaging 1.00
R4446:Adgrg6 UTSW 10 14,285,507 (GRCm39) missense probably damaging 1.00
R4472:Adgrg6 UTSW 10 14,312,525 (GRCm39) missense probably damaging 1.00
R4622:Adgrg6 UTSW 10 14,317,243 (GRCm39) missense probably damaging 1.00
R4623:Adgrg6 UTSW 10 14,317,243 (GRCm39) missense probably damaging 1.00
R4649:Adgrg6 UTSW 10 14,344,571 (GRCm39) missense probably damaging 1.00
R4882:Adgrg6 UTSW 10 14,310,081 (GRCm39) missense possibly damaging 0.88
R4978:Adgrg6 UTSW 10 14,296,205 (GRCm39) missense probably damaging 1.00
R5246:Adgrg6 UTSW 10 14,302,509 (GRCm39) missense probably damaging 1.00
R5420:Adgrg6 UTSW 10 14,302,730 (GRCm39) nonsense probably null
R5461:Adgrg6 UTSW 10 14,296,248 (GRCm39) missense probably damaging 1.00
R5580:Adgrg6 UTSW 10 14,286,228 (GRCm39) nonsense probably null
R5644:Adgrg6 UTSW 10 14,308,678 (GRCm39) missense probably damaging 1.00
R5847:Adgrg6 UTSW 10 14,302,521 (GRCm39) missense probably damaging 1.00
R5900:Adgrg6 UTSW 10 14,314,163 (GRCm39) critical splice donor site probably null
R6302:Adgrg6 UTSW 10 14,317,227 (GRCm39) missense probably benign 0.22
R6318:Adgrg6 UTSW 10 14,343,241 (GRCm39) missense probably benign
R6319:Adgrg6 UTSW 10 14,307,366 (GRCm39) missense probably damaging 1.00
R6339:Adgrg6 UTSW 10 14,310,091 (GRCm39) missense probably damaging 1.00
R6683:Adgrg6 UTSW 10 14,331,911 (GRCm39) missense probably damaging 0.97
R6983:Adgrg6 UTSW 10 14,307,439 (GRCm39) missense probably damaging 1.00
R7337:Adgrg6 UTSW 10 14,343,095 (GRCm39) missense possibly damaging 0.82
R7378:Adgrg6 UTSW 10 14,411,636 (GRCm39) missense probably benign 0.16
R7463:Adgrg6 UTSW 10 14,310,140 (GRCm39) missense possibly damaging 0.82
R7470:Adgrg6 UTSW 10 14,319,810 (GRCm39) missense probably benign
R7558:Adgrg6 UTSW 10 14,307,351 (GRCm39) missense probably damaging 1.00
R7593:Adgrg6 UTSW 10 14,344,573 (GRCm39) missense probably damaging 1.00
R7747:Adgrg6 UTSW 10 14,326,321 (GRCm39) critical splice donor site probably null
R7768:Adgrg6 UTSW 10 14,307,410 (GRCm39) missense probably benign 0.00
R7962:Adgrg6 UTSW 10 14,296,428 (GRCm39) missense probably damaging 1.00
R8049:Adgrg6 UTSW 10 14,303,943 (GRCm39) missense probably benign 0.00
R8059:Adgrg6 UTSW 10 14,344,794 (GRCm39) missense probably damaging 0.99
R8373:Adgrg6 UTSW 10 14,343,078 (GRCm39) missense probably benign 0.03
R8406:Adgrg6 UTSW 10 14,343,082 (GRCm39) missense probably benign 0.05
R8722:Adgrg6 UTSW 10 14,296,188 (GRCm39) missense probably benign 0.35
R9046:Adgrg6 UTSW 10 14,323,858 (GRCm39) missense probably benign
R9422:Adgrg6 UTSW 10 14,302,740 (GRCm39) missense probably damaging 1.00
R9482:Adgrg6 UTSW 10 14,307,423 (GRCm39) missense probably benign 0.11
R9682:Adgrg6 UTSW 10 14,316,128 (GRCm39) missense possibly damaging 0.49
R9764:Adgrg6 UTSW 10 14,302,515 (GRCm39) missense probably benign 0.05
R9794:Adgrg6 UTSW 10 14,314,196 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20