Incidental Mutation 'IGL02272:Adgrg6'
ID 287189
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 # IGL02272
Quality Score
Status
Chromosome 10
Chromosomal Location 14278327-14421403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14344573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 127 (M127L)
Ref Sequence ENSEMBL: ENSMUSP00000043055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]
AlphaFold Q6F3F9
Predicted Effect probably damaging
Transcript: ENSMUST00000041168
AA Change: M127L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: M127L

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 damaging
Transcript: ENSMUST00000208429
AA Change: M127L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Adgrg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Adgrg6 APN 10 14,343,194 (GRCm39) missense probably damaging 0.99
IGL00428:Adgrg6 APN 10 14,343,119 (GRCm39) missense probably benign
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
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 2015-04-16