Incidental Mutation 'R0038:Hcrtr2'
ID 32821
Institutional Source Beutler Lab
Gene Symbol Hcrtr2
Ensembl Gene ENSMUSG00000032360
Gene Name hypocretin (orexin) receptor 2
Synonyms mOX2bR, mOX2aR, mOXR2, OX2r
MMRRC Submission 038332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R0038 (G1)
Quality Score 217
Status Validated (trace)
Chromosome 9
Chromosomal Location 76133162-76230905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76166963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 125 (S125T)
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: S125T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: S125T

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: S125T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: S125T

DomainStartEndE-ValueType
Pfam:7tm_1 71 364 1.2e-59 PFAM
Pfam:Orexin_rec2 383 443 2.2e-47 PFAM
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Ankrd28 A T 14: 31,429,992 (GRCm39) M892K probably damaging Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Arl9 G A 5: 77,154,322 (GRCm39) E17K probably benign Het
Bbs9 G A 9: 22,415,390 (GRCm39) V105I probably benign Het
Celsr1 A T 15: 85,813,620 (GRCm39) N1997K possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col19a1 A T 1: 24,598,825 (GRCm39) L56Q unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp2b10 G A 7: 25,614,287 (GRCm39) A254T probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Eif2ak2 T A 17: 79,171,384 (GRCm39) M340L probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Fat3 T C 9: 15,826,306 (GRCm39) T4549A probably damaging Het
Fbxw28 A T 9: 109,167,608 (GRCm39) W50R probably damaging Het
Ggt7 T C 2: 155,344,701 (GRCm39) D214G probably benign Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Grin1 T C 2: 25,187,471 (GRCm39) N613S probably null Het
Hr T C 14: 70,805,525 (GRCm39) L1091P probably damaging Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Ighmbp2 A G 19: 3,312,097 (GRCm39) S886P probably damaging Het
Iqcg C A 16: 32,866,012 (GRCm39) L110F probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Kremen1 A C 11: 5,157,703 (GRCm39) probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Lin52 C G 12: 84,576,499 (GRCm39) L111V probably damaging Het
Myh15 T C 16: 48,891,504 (GRCm39) probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pdzd8 A G 19: 59,288,028 (GRCm39) I1124T possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Pnpla5 A G 15: 84,006,714 (GRCm39) Y90H probably damaging Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Ptprg T A 14: 12,213,710 (GRCm38) M1026K probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rapgef2 T C 3: 78,976,703 (GRCm39) I1368V probably benign Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,216 (GRCm39) F139L probably damaging Het
Sos2 T G 12: 69,643,467 (GRCm39) Q971P probably damaging Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Stard9 T A 2: 120,526,313 (GRCm39) C857S probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Trpm7 A G 2: 126,637,388 (GRCm39) S204P probably damaging Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Vmn2r15 T A 5: 109,441,010 (GRCm39) T283S possibly damaging Het
Wdr6 A T 9: 108,450,168 (GRCm39) V1120D probably damaging Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
R6023:Hcrtr2 UTSW 9 76,137,886 (GRCm39) missense probably benign 0.00
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'- CCACAACAGCTATCTGAGGTGGAC -3'
(R):5'- TGTGTGGCAGTGTGGAAGAACC -3'

Sequencing Primer
(F):5'- tccaaaccagaaacaatgcc -3'
(R):5'- TGTGGAAGAACCACCACATGAG -3'
Posted On 2013-05-09