Incidental Mutation 'R1659:Hcrtr1'
ID 186579
Institutional Source Beutler Lab
Gene Symbol Hcrtr1
Ensembl Gene ENSMUSG00000028778
Gene Name hypocretin (orexin) receptor 1
Synonyms OX1R
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 130024010-130033152 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 130029129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 224 (Y224*)
Ref Sequence ENSEMBL: ENSMUSP00000127290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030562] [ENSMUST00000119423] [ENSMUST00000120154] [ENSMUST00000164887]
AlphaFold P58307
Predicted Effect probably null
Transcript: ENSMUST00000030562
AA Change: Y224*
SMART Domains Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778
AA Change: Y224*

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119423
AA Change: Y224*
SMART Domains Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778
AA Change: Y224*

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 5.3e-56 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120154
AA Change: Y224*
SMART Domains Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778
AA Change: Y224*

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164887
AA Change: Y224*
SMART Domains Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778
AA Change: Y224*

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A possibly damaging 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
IGL02005:Hcrtr1 APN 4 130,031,056 (GRCm39) missense probably benign 0.31
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
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
Predicted Primers PCR Primer
(F):5'- AGAGGCTGCAAGTCACTTTGGG -3'
(R):5'- TGGCACCACTAGACTGGGCAATTC -3'

Sequencing Primer
(F):5'- GGCCTCGCTATATTCGCAG -3'
(R):5'- CACTAGACTGGGCAATTCTAGGC -3'
Posted On 2014-05-09