Incidental Mutation 'R9422:Adgrg6'
ID 712392
Institutional Source Beutler Lab
Gene Symbol Adgrg6
Ensembl Gene ENSMUSG00000039116
Gene Name adhesion G protein-coupled receptor G6
Synonyms 1190004A11Rik, DREG, LOC215798, Gpr126
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9422 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 14278327-14421403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14302740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 863 (R863H)
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: R863H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: R863H

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: R891H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (55/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,667,153 (GRCm39) V209I Het
Adamts18 T A 8: 114,501,910 (GRCm39) Y317F probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ank2 C A 3: 126,890,505 (GRCm39) K55N unknown Het
B3galnt2 A G 13: 14,150,136 (GRCm39) T160A probably benign Het
Becn1 C A 11: 101,192,832 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,444 (GRCm39) N777S possibly damaging Het
Cd302 T C 2: 60,082,697 (GRCm39) Y209C probably damaging Het
Cfap69 A G 5: 5,699,851 (GRCm39) V63A probably benign Het
Clasp1 T A 1: 118,390,257 (GRCm39) I147N possibly damaging Het
Cmtm3 A T 8: 105,067,358 (GRCm39) probably benign Het
Cmtm3 G T 8: 105,067,359 (GRCm39) probably benign Het
Col15a1 A T 4: 47,293,364 (GRCm39) probably null Het
Csn3 A G 5: 88,077,872 (GRCm39) N126S probably benign Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dctn1 T A 6: 83,170,691 (GRCm39) H729Q possibly damaging Het
Dop1a C T 9: 86,425,093 (GRCm39) H2138Y probably damaging Het
Fbxo2 T C 4: 148,248,616 (GRCm39) L36P unknown Het
Gzmg T A 14: 56,395,812 (GRCm39) Y49F probably benign Het
H2bc3 A G 13: 23,930,940 (GRCm39) I55V possibly damaging Het
Hivep1 A G 13: 42,313,213 (GRCm39) T1818A probably benign Het
Ipmk T C 10: 71,212,550 (GRCm39) S171P possibly damaging Het
Milr1 T A 11: 106,657,805 (GRCm39) Y239N probably damaging Het
Muc16 T C 9: 18,553,102 (GRCm39) N4397S probably benign Het
Nell1 C A 7: 49,712,387 (GRCm39) S69* probably null Het
Nme8 A G 13: 19,859,918 (GRCm39) V234A probably benign Het
Notch2 A G 3: 98,054,668 (GRCm39) S2444G probably damaging Het
Odad3 T A 9: 21,913,628 (GRCm39) H48L possibly damaging Het
Or5p75-ps1 A T 7: 108,108,155 (GRCm39) K297N unknown Het
Or7g35 T A 9: 19,495,968 (GRCm39) I45K probably damaging Het
Pex5l T C 3: 33,136,401 (GRCm39) probably benign Het
Pgm3 A T 9: 86,443,938 (GRCm39) L322H probably damaging Het
Plxna2 T A 1: 194,326,730 (GRCm39) F221L probably damaging Het
Pramel22 T A 4: 143,382,982 (GRCm39) K79M probably damaging Het
Prkaa2 A G 4: 104,909,195 (GRCm39) I83T probably benign Het
R3hdml A G 2: 163,334,526 (GRCm39) T39A probably benign Het
Ralgds A G 2: 28,435,184 (GRCm39) M447V probably benign Het
Rgs2 T C 1: 143,878,783 (GRCm39) D40G probably damaging Het
Robo3 T C 9: 37,329,789 (GRCm39) M1176V probably benign Het
Rpap1 G A 2: 119,613,519 (GRCm39) probably benign Het
Skic3 A T 13: 76,278,447 (GRCm39) probably benign Het
Slc26a8 T C 17: 28,857,560 (GRCm39) D861G possibly damaging Het
Slc4a8 A T 15: 100,698,469 (GRCm39) I705F probably benign Het
Slco3a1 C T 7: 73,946,996 (GRCm39) V576I probably damaging Het
Socs7 A G 11: 97,253,973 (GRCm39) D169G possibly damaging Het
Tanc1 T C 2: 59,637,933 (GRCm39) V878A probably benign Het
Thop1 C T 10: 80,916,001 (GRCm39) R395W probably damaging Het
Tpp2 T A 1: 44,017,897 (GRCm39) H765Q probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,069 (GRCm39) M294L possibly damaging Het
Vmn1r27 T C 6: 58,192,867 (GRCm39) T46A probably benign Het
Vmn2r28 A G 7: 5,483,747 (GRCm39) S818P probably damaging Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Zfhx3 C T 8: 109,430,850 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,321 (GRCm39) M330V probably benign Het
Zhx1 T C 15: 57,916,071 (GRCm39) Y725C probably damaging Het
Zhx3 C T 2: 160,624,020 (GRCm39) S49N 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
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
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
Predicted Primers PCR Primer
(F):5'- CAATGTACATGTGGATGGCTTCC -3'
(R):5'- AACACTTGGGGATTTTGGAAAC -3'

Sequencing Primer
(F):5'- CAGCCCCATCCAGGTGAAG -3'
(R):5'- CACATTGAAAAACACTTTGTAGCCTG -3'
Posted On 2022-05-16