Incidental Mutation 'R0356:Adgrg6'
ID 29831
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 038562-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0356 (G1)
Quality Score 221
Status Validated
Chromosome 10
Chromosomal Location 14278327-14421403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14302642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 924 (V924M)
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: V896M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: V896M

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 possibly damaging
Transcript: ENSMUST00000208429
AA Change: V924M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1944 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A 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
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
Predicted Primers PCR Primer
(F):5'- TGGTAAGGGTTTCAAAACCACACAGTG -3'
(R):5'- ACATGGGTGTAAGGTGTTATTCCATGC -3'

Sequencing Primer
(F):5'- ACGTTTTGAGGGAAGCTTACC -3'
(R):5'- ATGCGTGACACTCCCTTC -3'
Posted On 2013-04-24