Incidental Mutation 'IGL01373:Gpr19'
ID84094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr19
Ensembl Gene ENSMUSG00000032641
Gene NameG protein-coupled receptor 19
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01373
Quality Score
Status
Chromosome6
Chromosomal Location134869093-134898578 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134870321 bp
ZygosityHeterozygous
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]
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: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Gpr19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Gpr19 APN 6 134869742 missense probably damaging 0.99
IGL01988:Gpr19 APN 6 134869284 missense probably damaging 1.00
R1530:Gpr19 UTSW 6 134869998 missense probably damaging 0.97
R1548:Gpr19 UTSW 6 134870084 missense possibly damaging 0.92
R1699:Gpr19 UTSW 6 134870229 missense possibly damaging 0.93
R2131:Gpr19 UTSW 6 134870442 start codon destroyed probably null 0.99
R5016:Gpr19 UTSW 6 134869917 nonsense probably null
R6605:Gpr19 UTSW 6 134870435 missense probably benign 0.02
R7080:Gpr19 UTSW 6 134870456 missense probably damaging 0.99
R7746:Gpr19 UTSW 6 134869392 missense probably damaging 1.00
R8014:Gpr19 UTSW 6 134869473 missense probably damaging 1.00
Posted On2013-11-11