Incidental Mutation 'IGL02164:Adgrg6'
ID 282622
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 # IGL02164
Quality Score
Status
Chromosome 10
Chromosomal Location 14278327-14421403 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 14399299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]
AlphaFold Q6F3F9
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: ENSMUST00000096020
SMART Domains Protein: ENSMUSP00000093719
Gene: ENSMUSG00000071532

DomainStartEndE-ValueType
Pfam:Ribosomal_L23eN 17 67 2.9e-30 PFAM
Pfam:Ribosomal_L23 75 148 4.5e-18 PFAM
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T A 5: 48,537,524 (GRCm39) V187E probably benign Het
Abcc12 T A 8: 87,254,033 (GRCm39) D917V probably damaging Het
Abhd15 A T 11: 77,406,840 (GRCm39) E272D probably benign Het
Adat3 T A 10: 80,442,461 (GRCm39) S100T probably benign Het
Alpl C T 4: 137,481,290 (GRCm39) V121M probably damaging Het
Ano1 A T 7: 144,190,918 (GRCm39) Y388N possibly damaging Het
Arrdc4 C T 7: 68,389,285 (GRCm39) probably benign Het
Asxl2 A G 12: 3,552,079 (GRCm39) M1274V probably benign Het
Bmt2 G T 6: 13,628,878 (GRCm39) N268K possibly damaging Het
Bpifb2 C A 2: 153,725,482 (GRCm39) L176M probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cd14 T C 18: 36,858,838 (GRCm39) R206G possibly damaging Het
Cfap65 G T 1: 74,967,304 (GRCm39) T215K possibly damaging Het
Chd9 T C 8: 91,659,849 (GRCm39) S270P possibly damaging Het
Cidea C T 18: 67,499,581 (GRCm39) S156L probably damaging Het
Col5a3 A G 9: 20,703,939 (GRCm39) probably null Het
Cspg5 T C 9: 110,080,104 (GRCm39) V424A probably damaging Het
Ctc1 A G 11: 68,916,922 (GRCm39) H272R probably damaging Het
D5Ertd579e A T 5: 36,772,303 (GRCm39) S697R probably damaging Het
Dennd3 T C 15: 73,416,297 (GRCm39) S516P probably benign Het
Dipk2b T A X: 18,285,192 (GRCm39) R421* probably null Het
Dlgap4 G A 2: 156,553,059 (GRCm39) R509H probably damaging Het
Dus3l T C 17: 57,074,943 (GRCm39) probably benign Het
Dync1h1 G T 12: 110,628,993 (GRCm39) W4183C probably damaging Het
Eif2s3x A T X: 93,248,678 (GRCm39) M152K possibly damaging Het
Epb41l1 C T 2: 156,336,869 (GRCm39) probably benign Het
Ephx2 A G 14: 66,341,169 (GRCm39) probably benign Het
Fabp12 T A 3: 10,311,075 (GRCm39) Y129F probably damaging Het
Fat3 A G 9: 15,942,720 (GRCm39) probably benign Het
Fat4 T C 3: 39,050,354 (GRCm39) probably null Het
Gnb1 T A 4: 155,641,631 (GRCm39) probably null Het
Gpr107 C A 2: 31,068,298 (GRCm39) Y253* probably null Het
Grb10 C T 11: 11,893,962 (GRCm39) E320K probably damaging Het
Gucy2g G T 19: 55,226,455 (GRCm39) H154N probably benign Het
H2bl1 T C 13: 99,120,715 (GRCm39) K104E probably damaging Het
Hemk1 T A 9: 107,208,735 (GRCm39) H154L probably benign Het
Hk2 A T 6: 82,720,920 (GRCm39) probably null Het
Htr5a A G 5: 28,047,463 (GRCm39) N6S probably damaging Het
Htra3 T C 5: 35,810,410 (GRCm39) D424G probably benign Het
Ift52 A G 2: 162,867,384 (GRCm39) probably null Het
Igdcc4 A G 9: 65,032,064 (GRCm39) probably benign Het
Itpr1 A G 6: 108,366,444 (GRCm39) K124E probably benign Het
Kcnc2 T A 10: 112,291,590 (GRCm39) N259K possibly damaging Het
Kics2 A G 10: 121,586,675 (GRCm39) Y194C probably damaging Het
Lmod2 A T 6: 24,603,909 (GRCm39) I295F possibly damaging Het
Lrp1 T C 10: 127,399,536 (GRCm39) E2324G probably benign Het
Lss T C 10: 76,372,094 (GRCm39) S150P probably damaging Het
Macf1 T C 4: 123,374,065 (GRCm39) N1515S probably benign Het
Mapk11 T C 15: 89,029,651 (GRCm39) probably null Het
Mc3r T A 2: 172,091,314 (GRCm39) F179I probably damaging Het
Mtmr9 T A 14: 63,767,737 (GRCm39) N291Y probably damaging Het
Myo1h T C 5: 114,472,157 (GRCm39) F396L probably damaging Het
Nek2 A G 1: 191,559,416 (GRCm39) K307R probably benign Het
Or12d2 C A 17: 37,624,578 (GRCm39) M232I probably benign Het
Osmr G A 15: 6,871,529 (GRCm39) T296I probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pfkp C T 13: 6,647,951 (GRCm39) V542M probably damaging Het
Pmpca C T 2: 26,285,581 (GRCm39) S519L probably benign Het
Ptgds A T 2: 25,359,124 (GRCm39) Y44N probably damaging Het
Raly T A 2: 154,701,849 (GRCm39) Y116* probably null Het
Rock2 A G 12: 17,015,530 (GRCm39) D809G probably damaging Het
Sgsm2 T G 11: 74,756,242 (GRCm39) N369T possibly damaging Het
Slc6a15 A G 10: 103,254,083 (GRCm39) D673G probably benign Het
Spire2 A T 8: 124,059,703 (GRCm39) D67V probably damaging Het
St7l T C 3: 104,829,597 (GRCm39) probably null Het
Stau2 A G 1: 16,416,052 (GRCm39) L469P probably damaging Het
Tefm A G 11: 80,030,915 (GRCm39) L107S probably damaging Het
Ticam1 A T 17: 56,577,019 (GRCm39) V692D unknown Het
Tipin T A 9: 64,201,631 (GRCm39) D143E probably damaging Het
Tmem132c C A 5: 127,613,441 (GRCm39) T448K probably damaging Het
Trav8-1 A T 14: 53,707,213 (GRCm39) M1L unknown Het
Ttn C A 2: 76,569,141 (GRCm39) V27251F probably damaging Het
Uvrag A T 7: 98,653,896 (GRCm39) C31* probably null Het
Zap70 T C 1: 36,810,267 (GRCm39) Y126H probably damaging Het
Zfp644 A G 5: 106,785,965 (GRCm39) V194A probably benign Het
Zfp663 C T 2: 165,200,968 (GRCm39) W22* probably null 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
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 2015-04-16