Incidental Mutation 'PIT4468001:Gpr108'
ID555670
Institutional Source Beutler Lab
Gene Symbol Gpr108
Ensembl Gene ENSMUSG00000005823
Gene NameG protein-coupled receptor 108
Synonyms1810015L19Rik
Accession Numbers

Genbank: NM_030084.3; Ensembl: ENSMUST00000005975

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #PIT4468001 (G1)
Quality Score81.0075
Status Not validated
Chromosome17
Chromosomal Location57234914-57247641 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57247563 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 25 (L25Q)
Ref Sequence ENSEMBL: ENSMUSP00000005975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005975] [ENSMUST00000005975] [ENSMUST00000019631] [ENSMUST00000224152] [ENSMUST00000224885] [ENSMUST00000224947] [ENSMUST00000225664]
Predicted Effect probably null
Transcript: ENSMUST00000005975
AA Change: L25Q

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005975
Gene: ENSMUSG00000005823
AA Change: L25Q

DomainStartEndE-ValueType
low complexity region 61 75 N/A INTRINSIC
low complexity region 86 103 N/A INTRINSIC
Pfam:Lung_7-TM_R 240 529 2.3e-98 PFAM
low complexity region 535 547 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000005975
AA Change: L25Q

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005975
Gene: ENSMUSG00000005823
AA Change: L25Q

DomainStartEndE-ValueType
low complexity region 61 75 N/A INTRINSIC
low complexity region 86 103 N/A INTRINSIC
Pfam:Lung_7-TM_R 240 529 2.3e-98 PFAM
low complexity region 535 547 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019631
SMART Domains Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487

DomainStartEndE-ValueType
FCH 1 94 9.95e-29 SMART
coiled coil region 117 197 N/A INTRINSIC
low complexity region 310 318 N/A INTRINSIC
PDB:2KE4|A 332 425 3e-35 PDB
low complexity region 433 455 N/A INTRINSIC
low complexity region 458 467 N/A INTRINSIC
SH3 489 546 2.44e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224152
Predicted Effect probably benign
Transcript: ENSMUST00000224885
Predicted Effect probably benign
Transcript: ENSMUST00000224947
Predicted Effect probably benign
Transcript: ENSMUST00000225664
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 L34F probably damaging Het
Alms1 T C 6: 85,624,719 probably null Het
Arhgap15 C A 2: 44,243,131 Q350K probably damaging Het
Bbs1 T A 19: 4,906,162 H35L probably benign Het
Cep85 T C 4: 134,148,697 N468S probably damaging Het
Chd8 A C 14: 52,207,996 D1709E probably benign Het
Chd8 T C 14: 52,217,881 I1050V possibly damaging Het
Clec9a G A 6: 129,419,634 probably null Het
Cyp2c70 T A 19: 40,165,362 D261V probably damaging Het
Deup1 T C 9: 15,564,005 N420D possibly damaging Het
Dpys T A 15: 39,857,205 D53V probably damaging Het
Edem1 A G 6: 108,844,867 E295G probably damaging Het
Farp2 G T 1: 93,528,777 E61* probably null Het
Fat3 T G 9: 15,996,351 D2785A probably benign Het
Fbxo30 T A 10: 11,290,956 M474K possibly damaging Het
Gm13090 C A 4: 151,091,082 P93Q unknown Het
Gm21976 A T 13: 98,307,027 R229* probably null Het
Hdac9 C A 12: 34,095,934 V920F unknown Het
Ighv13-2 T C 12: 114,357,973 S49G probably benign Het
Krt6a T C 15: 101,693,917 Y111C probably damaging Het
Mib1 T C 18: 10,798,463 S775P possibly damaging Het
Mki67 A G 7: 135,699,147 I1386T probably benign Het
Mroh2b A G 15: 4,912,812 E352G probably damaging Het
Nfya A G 17: 48,395,777 M61T unknown Het
Ntn4 A G 10: 93,644,725 T104A probably damaging Het
Numb G A 12: 83,808,147 T135I probably damaging Het
Olfr1030 A T 2: 85,984,448 T203S probably benign Het
Olfr1271 C A 2: 90,266,220 C70F probably benign Het
Olfr599 A C 7: 103,338,600 E182A probably damaging Het
Parpbp A C 10: 88,144,073 L7R probably benign Het
Pcdhb8 T C 18: 37,356,633 Y455H probably damaging Het
Pcdhga10 T A 18: 37,747,883 D232E probably damaging Het
Pcdhga9 T A 18: 37,739,474 C785* probably null Het
Pkd1l3 A G 8: 109,664,499 Y1913C possibly damaging Het
Pld4 T G 12: 112,767,822 L374R probably damaging Het
Ppp1r13b A T 12: 111,838,702 I350N probably benign Het
Rc3h2 C A 2: 37,399,639 G387V probably damaging Het
Rfwd3 T C 8: 111,282,720 H408R probably benign Het
Rpl3l A G 17: 24,735,483 T173A probably benign Het
Sdad1 T C 5: 92,291,918 D416G probably damaging Het
Srp72 C A 5: 76,994,206 T430K probably benign Het
Steap1 C A 5: 5,736,642 G265V probably damaging Het
Sulf2 A T 2: 166,080,800 I670N probably benign Het
Tcf7l2 A T 19: 55,742,388 D16V probably damaging Het
Tmem100 T A 11: 90,035,361 S5T probably benign Het
Tnc C A 4: 63,964,667 D1906Y probably damaging Het
Trak1 T C 9: 121,453,332 S436P probably benign Het
Ttyh1 T C 7: 4,119,772 Y40H possibly damaging Het
Ubxn8 T A 8: 33,621,541 S275C probably benign Het
Umodl1 A G 17: 30,959,278 Y76C probably damaging Het
Upk3b C T 5: 136,043,007 T222M probably benign Het
Usp42 T A 5: 143,714,644 K1208M probably damaging Het
Vmn2r25 A T 6: 123,839,598 D341E probably benign Het
Vmn2r83 T G 10: 79,478,050 L164R probably damaging Het
Vwa8 G T 14: 79,183,061 R1734L probably damaging Het
Zfand2b G T 1: 75,169,832 R117L probably benign Het
Other mutations in Gpr108
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Gpr108 APN 17 57237877 missense probably damaging 1.00
IGL02486:Gpr108 APN 17 57235977 missense probably damaging 1.00
IGL02810:Gpr108 APN 17 57242742 missense probably benign 0.39
IGL03233:Gpr108 APN 17 57245042 missense probably benign 0.00
1mM(1):Gpr108 UTSW 17 57245352 unclassified probably benign
IGL02799:Gpr108 UTSW 17 57237482 missense probably damaging 1.00
R0391:Gpr108 UTSW 17 57243101 missense probably benign 0.02
R0469:Gpr108 UTSW 17 57235358 missense possibly damaging 0.65
R0510:Gpr108 UTSW 17 57235358 missense possibly damaging 0.65
R0613:Gpr108 UTSW 17 57238174 splice site probably benign
R1034:Gpr108 UTSW 17 57235995 missense probably damaging 1.00
R1141:Gpr108 UTSW 17 57237219 missense probably damaging 1.00
R1748:Gpr108 UTSW 17 57236217 missense probably damaging 0.99
R2000:Gpr108 UTSW 17 57236712 missense probably benign 0.03
R3036:Gpr108 UTSW 17 57245323 missense probably benign 0.01
R4087:Gpr108 UTSW 17 57237925 missense probably damaging 1.00
R4089:Gpr108 UTSW 17 57237925 missense probably damaging 1.00
R5071:Gpr108 UTSW 17 57235335 missense probably damaging 1.00
R5566:Gpr108 UTSW 17 57236919 missense probably damaging 1.00
R6889:Gpr108 UTSW 17 57236990 missense probably damaging 1.00
R7352:Gpr108 UTSW 17 57236944 missense probably damaging 1.00
R7587:Gpr108 UTSW 17 57236732 missense probably damaging 1.00
R7642:Gpr108 UTSW 17 57236228 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTTAAGCGCCAGGAGTCAG -3'
(R):5'- AATTGGGTGACTAGACCACG -3'

Sequencing Primer
(F):5'- TCCCAGGAGATGAAGCCC -3'
(R):5'- TAGACCACGTCGTGCGACTATTG -3'
Posted On2019-06-07