Incidental Mutation 'R6023:Hcrtr2'
ID 479044
Institutional Source Beutler Lab
Gene Symbol Hcrtr2
Ensembl Gene ENSMUSG00000032360
Gene Name hypocretin (orexin) receptor 2
Synonyms mOX2bR, mOX2aR, mOXR2, OX2r
MMRRC Submission 044195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6023 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 76133162-76230905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76137886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 410 (I410F)
Ref Sequence ENSEMBL: ENSMUSP00000139377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063140] [ENSMUST00000184757]
AlphaFold P58308
Predicted Effect probably benign
Transcript: ENSMUST00000063140
AA Change: I410F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: I410F

DomainStartEndE-ValueType
Pfam:7tm_1 71 364 2.2e-59 PFAM
Pfam:Orexin_rec2 386 443 1.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184757
AA Change: I410F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: I410F

DomainStartEndE-ValueType
Pfam:7tm_1 71 364 1.2e-59 PFAM
Pfam:Orexin_rec2 383 443 2.2e-47 PFAM
Meta Mutation Damage Score 0.0742 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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 binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice bearing targeted mutations in this gene exhibit fragmentation of sleep/wake states with similarity to narcolepsy and rare or very rare episodes of cataplexy. In addition, mice homozygous for a funtionally null allele display enhanced depression-likebehavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,757,843 (GRCm39) N1302S possibly damaging Het
Aff3 A T 1: 38,257,451 (GRCm39) S424T probably damaging Het
Ap2b1 C T 11: 83,226,224 (GRCm39) T207M probably damaging Het
Appl2 T C 10: 83,484,393 (GRCm39) Q18R probably null Het
Atrn T C 2: 130,862,900 (GRCm39) F1327L probably benign Het
Birc6 A T 17: 74,961,372 (GRCm39) I47F probably benign Het
Cdh23 A T 10: 60,301,321 (GRCm39) I451N probably damaging Het
Clec3a A G 8: 115,144,883 (GRCm39) T20A possibly damaging Het
Cpz T A 5: 35,669,922 (GRCm39) I252F probably benign Het
Ctc1 A G 11: 68,913,433 (GRCm39) D143G probably benign Het
Dhrs1 A T 14: 55,981,127 (GRCm39) Y94* probably null Het
Dnajc25 A G 4: 59,013,752 (GRCm39) K157E possibly damaging Het
Dpp6 T C 5: 27,928,545 (GRCm39) I789T probably damaging Het
Duox1 T G 2: 122,168,165 (GRCm39) F1097V probably benign Het
Ercc8 A G 13: 108,315,111 (GRCm39) T242A probably damaging Het
Evc2 T A 5: 37,505,960 (GRCm39) M93K probably benign Het
Glra1 A T 11: 55,424,679 (GRCm39) V94E probably damaging Het
Got1l1 A T 8: 27,689,932 (GRCm39) Y151* probably null Het
Ighv1-72 T A 12: 115,721,532 (GRCm39) probably benign Het
Kel C A 6: 41,674,409 (GRCm39) E340D probably benign Het
Kif11 A G 19: 37,379,158 (GRCm39) E283G probably damaging Het
Klk4 T G 7: 43,533,482 (GRCm39) F114V probably benign Het
Krt7 T C 15: 101,310,278 (GRCm39) probably benign Het
Lrrc74a A G 12: 86,805,380 (GRCm39) I401V probably damaging Het
Luzp2 T C 7: 54,707,815 (GRCm39) S68P possibly damaging Het
Naip1 T C 13: 100,562,694 (GRCm39) T824A probably benign Het
Nav3 T C 10: 109,659,376 (GRCm39) Q747R possibly damaging Het
Or13p4 T A 4: 118,547,271 (GRCm39) Y126F probably damaging Het
Or1j11 A G 2: 36,311,523 (GRCm39) T38A probably damaging Het
Or4c107 A G 2: 88,789,059 (GRCm39) D83G possibly damaging Het
Or51f1 T C 7: 102,506,169 (GRCm39) I107V possibly damaging Het
Or52h2 T C 7: 103,838,880 (GRCm39) H178R probably damaging Het
Or5b120 A G 19: 13,480,067 (GRCm39) D120G probably damaging Het
Or7g22 A C 9: 19,049,021 (GRCm39) H244P probably damaging Het
Pcdhb11 T C 18: 37,555,978 (GRCm39) I436T possibly damaging Het
Pfdn2 T C 1: 171,184,319 (GRCm39) Y65H probably damaging Het
Polr2h T C 16: 20,537,776 (GRCm39) Y58H probably benign Het
Prrt4 G A 6: 29,176,452 (GRCm39) P291L probably benign Het
Psg29 G T 7: 16,944,437 (GRCm39) V316L possibly damaging Het
Rnf112 T A 11: 61,340,555 (GRCm39) E525V probably damaging Het
Sgms1 T C 19: 32,101,773 (GRCm39) K411R probably benign Het
Sh3tc1 T A 5: 35,864,295 (GRCm39) K631* probably null Het
Syne1 T C 10: 5,393,223 (GRCm39) M48V probably benign Het
Thrb C T 14: 18,011,209 (GRCm38) T226I probably damaging Het
Trim67 A T 8: 125,541,843 (GRCm39) D347V probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn G T 2: 76,565,744 (GRCm39) L19876I probably damaging Het
Vars1 C T 17: 35,220,585 (GRCm39) R56C probably damaging Het
Vmn1r9 A G 6: 57,048,239 (GRCm39) I105V probably benign Het
Vps8 C A 16: 21,279,988 (GRCm39) T313K probably benign Het
Other mutations in Hcrtr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Hcrtr2 APN 9 76,135,437 (GRCm39) missense possibly damaging 0.86
IGL00492:Hcrtr2 APN 9 76,153,723 (GRCm39) missense probably damaging 1.00
IGL00782:Hcrtr2 APN 9 76,137,779 (GRCm39) utr 3 prime probably benign
IGL03096:Hcrtr2 APN 9 76,161,908 (GRCm39) missense probably benign 0.01
PIT4508001:Hcrtr2 UTSW 9 76,153,662 (GRCm39) nonsense probably null
R0038:Hcrtr2 UTSW 9 76,166,963 (GRCm39) missense probably benign 0.00
R0038:Hcrtr2 UTSW 9 76,166,963 (GRCm39) missense probably benign 0.00
R0268:Hcrtr2 UTSW 9 76,135,470 (GRCm39) missense probably benign
R0389:Hcrtr2 UTSW 9 76,153,662 (GRCm39) nonsense probably null
R0499:Hcrtr2 UTSW 9 76,161,954 (GRCm39) missense probably damaging 1.00
R0607:Hcrtr2 UTSW 9 76,137,966 (GRCm39) missense probably benign 0.00
R1622:Hcrtr2 UTSW 9 76,230,722 (GRCm39) missense probably benign 0.03
R1637:Hcrtr2 UTSW 9 76,140,281 (GRCm39) missense probably benign
R1698:Hcrtr2 UTSW 9 76,153,735 (GRCm39) missense probably damaging 1.00
R1856:Hcrtr2 UTSW 9 76,167,067 (GRCm39) missense probably damaging 1.00
R1876:Hcrtr2 UTSW 9 76,153,627 (GRCm39) critical splice donor site probably null
R3411:Hcrtr2 UTSW 9 76,140,290 (GRCm39) missense probably benign 0.30
R4469:Hcrtr2 UTSW 9 76,137,838 (GRCm39) missense probably benign 0.30
R4560:Hcrtr2 UTSW 9 76,161,970 (GRCm39) missense probably damaging 1.00
R4797:Hcrtr2 UTSW 9 76,161,816 (GRCm39) missense probably damaging 1.00
R5001:Hcrtr2 UTSW 9 76,137,886 (GRCm39) missense probably benign 0.00
R5027:Hcrtr2 UTSW 9 76,230,578 (GRCm39) missense probably benign 0.31
R5611:Hcrtr2 UTSW 9 76,230,596 (GRCm39) missense probably damaging 0.98
R5770:Hcrtr2 UTSW 9 76,166,948 (GRCm39) missense probably damaging 0.98
R5826:Hcrtr2 UTSW 9 76,230,569 (GRCm39) missense probably benign 0.32
R6110:Hcrtr2 UTSW 9 76,167,064 (GRCm39) missense probably damaging 1.00
R7084:Hcrtr2 UTSW 9 76,137,942 (GRCm39) missense probably benign 0.21
R7103:Hcrtr2 UTSW 9 76,161,793 (GRCm39) missense probably benign 0.00
R7173:Hcrtr2 UTSW 9 76,167,013 (GRCm39) missense probably damaging 1.00
R7783:Hcrtr2 UTSW 9 76,140,196 (GRCm39) missense probably damaging 1.00
R8255:Hcrtr2 UTSW 9 76,140,203 (GRCm39) missense probably damaging 1.00
R8870:Hcrtr2 UTSW 9 76,153,666 (GRCm39) missense probably damaging 0.99
R9023:Hcrtr2 UTSW 9 76,161,854 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTGGATACTAAAACTGTTCACAGAG -3'
(R):5'- GTTAGCTTGGCTCAAGGGAACG -3'

Sequencing Primer
(F):5'- AGTCGGGTATCCTCATCA -3'
(R):5'- TCAAGGGAACGCCTCATTTG -3'
Posted On 2017-06-26