Incidental Mutation 'R4395:Adgrg4'
ID 325469
Institutional Source Beutler Lab
Gene Symbol Adgrg4
Ensembl Gene ENSMUSG00000053852
Gene Name adhesion G protein-coupled receptor G4
Synonyms Gpr112, PGR17, LOC236798
MMRRC Submission 041684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4395 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 55939594-56025719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55977703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 2193 (L2193V)
Ref Sequence ENSEMBL: ENSMUSP00000119486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136396] [ENSMUST00000153784] [ENSMUST00000154818]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000136396
AA Change: L2196V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116655
Gene: ENSMUSG00000053852
AA Change: L2196V

DomainStartEndE-ValueType
SCOP:d1saca_ 2 159 5e-14 SMART
low complexity region 242 261 N/A INTRINSIC
low complexity region 310 321 N/A INTRINSIC
internal_repeat_1 459 720 5.68e-5 PROSPERO
internal_repeat_1 719 999 5.68e-5 PROSPERO
low complexity region 1013 1024 N/A INTRINSIC
low complexity region 1051 1066 N/A INTRINSIC
low complexity region 1079 1101 N/A INTRINSIC
low complexity region 1243 1261 N/A INTRINSIC
low complexity region 1346 1357 N/A INTRINSIC
low complexity region 1536 1550 N/A INTRINSIC
low complexity region 1580 1596 N/A INTRINSIC
low complexity region 1843 1864 N/A INTRINSIC
low complexity region 1892 1911 N/A INTRINSIC
low complexity region 1953 1970 N/A INTRINSIC
low complexity region 2068 2076 N/A INTRINSIC
low complexity region 2257 2269 N/A INTRINSIC
GPS 2384 2436 1.79e-18 SMART
Pfam:7tm_2 2443 2684 4.8e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153784
AA Change: L2398V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116634
Gene: ENSMUSG00000053852
AA Change: L2398V

DomainStartEndE-ValueType
SCOP:d1saca_ 28 222 1e-17 SMART
low complexity region 305 324 N/A INTRINSIC
low complexity region 373 384 N/A INTRINSIC
internal_repeat_1 522 783 2.5e-5 PROSPERO
internal_repeat_1 782 1062 2.5e-5 PROSPERO
low complexity region 1076 1087 N/A INTRINSIC
low complexity region 1114 1129 N/A INTRINSIC
low complexity region 1142 1164 N/A INTRINSIC
low complexity region 1306 1324 N/A INTRINSIC
low complexity region 1409 1420 N/A INTRINSIC
low complexity region 1599 1613 N/A INTRINSIC
low complexity region 1643 1659 N/A INTRINSIC
low complexity region 1906 1927 N/A INTRINSIC
low complexity region 1955 1974 N/A INTRINSIC
low complexity region 2016 2033 N/A INTRINSIC
low complexity region 2131 2139 N/A INTRINSIC
low complexity region 2289 2300 N/A INTRINSIC
low complexity region 2459 2471 N/A INTRINSIC
GPS 2631 2683 1.79e-18 SMART
Pfam:7tm_2 2691 2932 8.6e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154818
AA Change: L2193V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119486
Gene: ENSMUSG00000053852
AA Change: L2193V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 100 119 N/A INTRINSIC
low complexity region 168 179 N/A INTRINSIC
internal_repeat_1 317 578 4.23e-5 PROSPERO
internal_repeat_1 577 857 4.23e-5 PROSPERO
low complexity region 871 882 N/A INTRINSIC
low complexity region 909 924 N/A INTRINSIC
low complexity region 937 959 N/A INTRINSIC
low complexity region 1101 1119 N/A INTRINSIC
low complexity region 1204 1215 N/A INTRINSIC
low complexity region 1394 1408 N/A INTRINSIC
low complexity region 1438 1454 N/A INTRINSIC
low complexity region 1701 1722 N/A INTRINSIC
low complexity region 1750 1769 N/A INTRINSIC
low complexity region 1811 1828 N/A INTRINSIC
low complexity region 1926 1934 N/A INTRINSIC
low complexity region 2084 2095 N/A INTRINSIC
low complexity region 2254 2266 N/A INTRINSIC
GPS 2426 2478 1.79e-18 SMART
Pfam:7tm_2 2485 2727 3.9e-52 PFAM
Meta Mutation Damage Score 0.2665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A G 4: 49,447,679 (GRCm39) Y283H probably benign Het
Adamtsl5 A G 10: 80,180,736 (GRCm39) C109R probably damaging Het
Alpk3 C T 7: 80,744,703 (GRCm39) S1266F probably damaging Het
Arfgef3 A G 10: 18,473,457 (GRCm39) L1614P probably damaging Het
Atm T C 9: 53,376,527 (GRCm39) R2038G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Capza2 T C 6: 17,656,449 (GRCm39) probably null Het
Cfap43 T C 19: 47,740,352 (GRCm39) T1274A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cisd3 A G 11: 97,579,212 (GRCm39) Y115C probably damaging Het
Crebl2 A G 6: 134,826,208 (GRCm39) E53G probably damaging Het
Ech1 T C 7: 28,525,671 (GRCm39) S107P probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Grm8 T A 6: 27,429,431 (GRCm39) I488F probably damaging Het
Hmga2 C T 10: 120,311,956 (GRCm39) G5S probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ifit3b G T 19: 34,589,951 (GRCm39) E376* probably null Het
Ints5 A G 19: 8,873,808 (GRCm39) E589G probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Ltv1 T C 10: 13,066,323 (GRCm39) Y101C probably benign Het
Maf1 T C 15: 76,236,357 (GRCm39) probably benign Het
Map3k13 A T 16: 21,717,321 (GRCm39) K185N possibly damaging Het
Mtcl3 T C 10: 29,023,351 (GRCm39) S233P probably benign Het
Mtus2 A T 5: 148,013,432 (GRCm39) Q75L probably benign Het
Nod2 T A 8: 89,391,019 (GRCm39) F427Y probably damaging Het
Or1s2 A T 19: 13,758,275 (GRCm39) I100F probably benign Het
Or5p51 A G 7: 107,444,469 (GRCm39) L157P probably damaging Het
Pik3cg T C 12: 32,254,091 (GRCm39) D632G probably damaging Het
Plekhs1 A G 19: 56,468,326 (GRCm39) D298G probably benign Het
Rbm34 T C 8: 127,676,131 (GRCm39) T375A probably benign Het
Slc4a7 C T 14: 14,765,665 (GRCm38) T549I probably damaging Het
Slco1a7 T C 6: 141,657,844 (GRCm39) I565V probably benign Het
Stk17b A G 1: 53,803,274 (GRCm39) I47T probably damaging Het
Tenm2 C T 11: 35,915,451 (GRCm39) V2028I probably benign Het
Tle4 A T 19: 14,495,302 (GRCm39) H142Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpm2 T C 10: 77,765,053 (GRCm39) I983V probably benign Het
Ttll8 C T 15: 88,799,783 (GRCm39) A553T possibly damaging Het
Ubxn11 G T 4: 133,843,431 (GRCm39) E171D possibly damaging Het
Other mutations in Adgrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03215:Adgrg4 APN X 56,022,956 (GRCm39) missense probably damaging 1.00
R3407:Adgrg4 UTSW X 56,013,487 (GRCm39) missense probably damaging 0.97
R3408:Adgrg4 UTSW X 56,013,487 (GRCm39) missense probably damaging 0.97
R3947:Adgrg4 UTSW X 55,963,114 (GRCm39) missense probably benign 0.25
R3948:Adgrg4 UTSW X 55,963,114 (GRCm39) missense probably benign 0.25
R4067:Adgrg4 UTSW X 56,005,320 (GRCm39) missense probably damaging 1.00
R4207:Adgrg4 UTSW X 55,964,109 (GRCm39) missense possibly damaging 0.92
R4393:Adgrg4 UTSW X 55,977,703 (GRCm39) missense probably damaging 1.00
R4397:Adgrg4 UTSW X 55,977,703 (GRCm39) missense probably damaging 1.00
R4504:Adgrg4 UTSW X 55,961,802 (GRCm39) missense possibly damaging 0.63
Z1176:Adgrg4 UTSW X 55,959,619 (GRCm39) missense probably benign 0.00
Z1176:Adgrg4 UTSW X 55,940,062 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACAGGCCTTCCATTATTGC -3'
(R):5'- ATGGGCTGCTGTGAGGTAAC -3'

Sequencing Primer
(F):5'- GCTGATACCCATGGTAACCTTCATAG -3'
(R):5'- ACTTTTCATAGAGTGAGTTCTGCC -3'
Posted On 2015-07-06