Incidental Mutation 'IGL01373:Gpr19'
ID 84094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr19
Ensembl Gene ENSMUSG00000032641
Gene Name G protein-coupled receptor 19
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01373
Quality Score
Status
Chromosome 6
Chromosomal Location 134846055-134875157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134847284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 41 (H41L)
Ref Sequence ENSEMBL: ENSMUSP00000144918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046255] [ENSMUST00000066107] [ENSMUST00000111932] [ENSMUST00000116515] [ENSMUST00000165392] [ENSMUST00000203409] [ENSMUST00000203762] [ENSMUST00000204880] [ENSMUST00000215088]
AlphaFold Q61121
Predicted Effect probably benign
Transcript: ENSMUST00000046255
AA Change: H47L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000047630
Gene: ENSMUSG00000032641
AA Change: H47L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 76 345 1.7e-12 PFAM
Pfam:7tm_1 82 330 1.8e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066107
AA Change: H133L

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066287
Gene: ENSMUSG00000032641
AA Change: H133L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 76 345 1.7e-12 PFAM
Pfam:7tm_1 82 330 5.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111932
AA Change: H41L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107563
Gene: ENSMUSG00000032641
AA Change: H41L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 70 339 2.6e-12 PFAM
Pfam:7tm_1 76 324 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116515
AA Change: H41L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112214
Gene: ENSMUSG00000032641
AA Change: H41L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 70 339 2.6e-12 PFAM
Pfam:7tm_1 76 324 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165392
AA Change: H41L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000127876
Gene: ENSMUSG00000032641
AA Change: H41L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 70 339 2.6e-12 PFAM
Pfam:7tm_1 76 324 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203409
AA Change: H41L

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145128
Gene: ENSMUSG00000032641
AA Change: H41L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 70 132 9e-5 PFAM
Pfam:7tm_1 76 135 2.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203762
Predicted Effect possibly damaging
Transcript: ENSMUST00000204880
AA Change: H41L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144918
Gene: ENSMUSG00000032641
AA Change: H41L

DomainStartEndE-ValueType
transmembrane domain 59 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215088
AA Change: H96L

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in increased anxiety-like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Gpr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Gpr19 APN 6 134,846,705 (GRCm39) missense probably damaging 0.99
IGL01988:Gpr19 APN 6 134,846,247 (GRCm39) missense probably damaging 1.00
R1530:Gpr19 UTSW 6 134,846,961 (GRCm39) missense probably damaging 0.97
R1548:Gpr19 UTSW 6 134,847,047 (GRCm39) missense possibly damaging 0.92
R1699:Gpr19 UTSW 6 134,847,192 (GRCm39) missense possibly damaging 0.93
R2131:Gpr19 UTSW 6 134,847,405 (GRCm39) start codon destroyed probably null 0.99
R5016:Gpr19 UTSW 6 134,846,880 (GRCm39) nonsense probably null
R6605:Gpr19 UTSW 6 134,847,398 (GRCm39) missense probably benign 0.02
R7080:Gpr19 UTSW 6 134,847,419 (GRCm39) missense probably damaging 0.99
R7746:Gpr19 UTSW 6 134,846,355 (GRCm39) missense probably damaging 1.00
R8014:Gpr19 UTSW 6 134,846,436 (GRCm39) missense probably damaging 1.00
R9176:Gpr19 UTSW 6 134,846,718 (GRCm39) missense probably damaging 0.99
R9408:Gpr19 UTSW 6 134,864,704 (GRCm39) missense unknown
Posted On 2013-11-11