Incidental Mutation 'IGL02005:Hcrtr1'
ID 183168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcrtr1
Ensembl Gene ENSMUSG00000028778
Gene Name hypocretin (orexin) receptor 1
Synonyms OX1R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02005
Quality Score
Status
Chromosome 4
Chromosomal Location 130024010-130033152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130031056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 76 (H76L)
Ref Sequence ENSEMBL: ENSMUSP00000127290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030562] [ENSMUST00000119423] [ENSMUST00000120154] [ENSMUST00000164887]
AlphaFold P58307
Predicted Effect probably benign
Transcript: ENSMUST00000030562
AA Change: H76L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: H76L

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119423
AA Change: H76L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: H76L

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 5.3e-56 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120154
AA Change: H76L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: H76L

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164887
AA Change: H76L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: H76L

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for one null allele display increased susceptibility to pharmacologically induced seizures. Mice homozygous for a second null allele display a decrease in depression like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,965,927 (GRCm39) D141G probably damaging Het
Ankhd1 T G 18: 36,781,479 (GRCm39) L2177R probably damaging Het
Arhgap23 A T 11: 97,382,045 (GRCm39) D1136V probably damaging Het
Atp6v1b1 A G 6: 83,730,896 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,701 (GRCm39) T65A probably benign Het
Bbs4 A G 9: 59,243,638 (GRCm39) probably benign Het
Bms1 G A 6: 118,381,546 (GRCm39) T664M probably damaging Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cdhr2 C T 13: 54,867,576 (GRCm39) H469Y probably benign Het
Cep57l1 T C 10: 41,616,957 (GRCm39) D110G probably benign Het
Chd4 G A 6: 125,105,779 (GRCm39) E1786K possibly damaging Het
Cltc T C 11: 86,621,045 (GRCm39) K321E possibly damaging Het
Col6a2 T C 10: 76,446,007 (GRCm39) D383G probably damaging Het
Crcp T G 5: 130,071,074 (GRCm39) C58G probably benign Het
Ctc1 A G 11: 68,921,975 (GRCm39) Y807C probably damaging Het
Eml4 T A 17: 83,785,132 (GRCm39) probably benign Het
Glce A T 9: 61,967,859 (GRCm39) L431I probably damaging Het
Glp1r C A 17: 31,143,585 (GRCm39) T207K probably benign Het
Gm28042 G A 2: 119,865,115 (GRCm39) V247I possibly damaging Het
Gvin-ps5 G T 7: 105,928,627 (GRCm39) F423L unknown Het
Hoxb13 G A 11: 96,085,435 (GRCm39) G56D probably damaging Het
Hykk A G 9: 54,827,842 (GRCm39) E27G possibly damaging Het
Kars1 A T 8: 112,726,736 (GRCm39) L321* probably null Het
Klhl12 A T 1: 134,391,652 (GRCm39) T95S possibly damaging Het
Klhl14 A T 18: 21,757,668 (GRCm39) Y347* probably null Het
Kmt5b A G 19: 3,836,538 (GRCm39) H25R possibly damaging Het
Krtap12-1 T A 10: 77,556,823 (GRCm39) V122D probably damaging Het
Lrrc66 T C 5: 73,766,077 (GRCm39) D322G possibly damaging Het
Lrrc8b T A 5: 105,628,920 (GRCm39) V422D probably benign Het
Med12l T G 3: 59,152,368 (GRCm39) M1051R probably damaging Het
Mmrn1 A G 6: 60,937,728 (GRCm39) Y242C probably damaging Het
Ncf2 A T 1: 152,692,803 (GRCm39) I107L possibly damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdlim4 T C 11: 53,950,810 (GRCm39) D93G probably benign Het
Pgap1 C A 1: 54,590,214 (GRCm39) A75S probably damaging Het
Pkd1 A G 17: 24,804,978 (GRCm39) D3209G possibly damaging Het
Prcp T C 7: 92,577,032 (GRCm39) S319P probably benign Het
Rasal2 G A 1: 156,984,568 (GRCm39) Q1035* probably null Het
Ryr3 A T 2: 112,493,608 (GRCm39) probably benign Het
Scaf8 T C 17: 3,236,145 (GRCm39) I544T probably damaging Het
Svep1 A T 4: 58,069,056 (GRCm39) V2910E possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Trpm7 A T 2: 126,655,104 (GRCm39) L1278H probably damaging Het
Tti2 G T 8: 31,645,858 (GRCm39) G391C probably damaging Het
Ttn C T 2: 76,778,363 (GRCm39) M1295I possibly damaging Het
Ttn T C 2: 76,554,313 (GRCm39) probably benign Het
Vmn1r170 G A 7: 23,306,338 (GRCm39) V247M probably damaging Het
Wdr48 T C 9: 119,734,455 (GRCm39) Y125H probably damaging Het
Wdtc1 C T 4: 133,036,225 (GRCm39) R105H probably benign Het
Zc3h11a A G 1: 133,549,880 (GRCm39) S699P probably benign Het
Zkscan14 C T 5: 145,132,419 (GRCm39) V371I probably benign Het
Zzef1 A T 11: 72,779,125 (GRCm39) Y1862F probably benign Het
Other mutations in Hcrtr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Hcrtr1 APN 4 130,031,062 (GRCm39) missense probably damaging 1.00
IGL00754:Hcrtr1 APN 4 130,031,026 (GRCm39) missense probably damaging 1.00
R0084:Hcrtr1 UTSW 4 130,031,059 (GRCm39) missense possibly damaging 0.79
R0590:Hcrtr1 UTSW 4 130,029,487 (GRCm39) missense probably damaging 0.96
R1531:Hcrtr1 UTSW 4 130,024,720 (GRCm39) nonsense probably null
R1659:Hcrtr1 UTSW 4 130,029,129 (GRCm39) nonsense probably null
R2055:Hcrtr1 UTSW 4 130,024,680 (GRCm39) missense probably benign 0.08
R3028:Hcrtr1 UTSW 4 130,029,604 (GRCm39) missense probably benign 0.31
R4488:Hcrtr1 UTSW 4 130,029,556 (GRCm39) missense probably benign 0.02
R4967:Hcrtr1 UTSW 4 130,024,792 (GRCm39) missense possibly damaging 0.69
R5301:Hcrtr1 UTSW 4 130,031,463 (GRCm39) splice site probably null
R5375:Hcrtr1 UTSW 4 130,029,518 (GRCm39) missense probably benign 0.08
R5636:Hcrtr1 UTSW 4 130,024,738 (GRCm39) missense possibly damaging 0.59
R6283:Hcrtr1 UTSW 4 130,029,133 (GRCm39) missense probably benign 0.01
R6505:Hcrtr1 UTSW 4 130,031,379 (GRCm39) missense probably benign
R7018:Hcrtr1 UTSW 4 130,029,661 (GRCm39) missense probably damaging 1.00
R7042:Hcrtr1 UTSW 4 130,024,653 (GRCm39) unclassified probably benign
R7091:Hcrtr1 UTSW 4 130,024,707 (GRCm39) missense probably damaging 0.99
R7259:Hcrtr1 UTSW 4 130,029,611 (GRCm39) missense possibly damaging 0.79
R7612:Hcrtr1 UTSW 4 130,029,478 (GRCm39) missense possibly damaging 0.61
R8140:Hcrtr1 UTSW 4 130,029,083 (GRCm39) missense probably damaging 0.99
R9410:Hcrtr1 UTSW 4 130,029,514 (GRCm39) missense probably damaging 0.98
R9485:Hcrtr1 UTSW 4 130,031,054 (GRCm39) missense possibly damaging 0.95
Z1177:Hcrtr1 UTSW 4 130,027,666 (GRCm39) nonsense probably null
Posted On 2014-05-07