Incidental Mutation 'R6110:Hcrtr2'
ID 484791
Institutional Source Beutler Lab
Gene Symbol Hcrtr2
Ensembl Gene ENSMUSG00000032360
Gene Name hypocretin (orexin) receptor 2
Synonyms mOX2bR, mOX2aR, mOXR2, OX2r
MMRRC Submission 044428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6110 (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 C at 76167064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 91 (Y91C)
Ref Sequence ENSEMBL: ENSMUSP00000139377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063140] [ENSMUST00000184757]
AlphaFold P58308
Predicted Effect probably damaging
Transcript: ENSMUST00000063140
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058230
Gene: ENSMUSG00000032360
AA Change: Y91C

DomainStartEndE-ValueType
Pfam:7tm_1 71 364 2.2e-59 PFAM
Pfam:Orexin_rec2 386 443 1.2e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184757
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139377
Gene: ENSMUSG00000032360
AA Change: Y91C

DomainStartEndE-ValueType
Pfam:7tm_1 71 364 1.2e-59 PFAM
Pfam:Orexin_rec2 383 443 2.2e-47 PFAM
Meta Mutation Damage Score 0.8503 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.7%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b T C 4: 56,740,224 (GRCm39) E378G probably damaging Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Alkal2 G A 12: 30,937,057 (GRCm39) R90Q probably damaging Het
Amy1 C T 3: 113,355,549 (GRCm39) V309M probably damaging Het
Apob T C 12: 8,061,883 (GRCm39) L3455P probably damaging Het
Ash1l T A 3: 88,892,436 (GRCm39) H1438Q probably damaging Het
BC024139 A G 15: 76,003,996 (GRCm39) S757P probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
C2cd3 T A 7: 100,090,283 (GRCm39) F462Y probably damaging Het
C4bp T A 1: 130,566,809 (GRCm39) K177* probably null Het
Cacna1h G T 17: 25,610,250 (GRCm39) P752Q probably benign Het
Cd34 G A 1: 194,631,877 (GRCm39) probably null Het
Cimap1a G T 7: 140,428,554 (GRCm39) R73L possibly damaging Het
Clptm1 G A 7: 19,367,731 (GRCm39) probably benign Het
Dip2c T C 13: 9,673,802 (GRCm39) S1081P probably damaging Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Efcab6 T G 15: 83,763,835 (GRCm39) M1166L possibly damaging Het
Fam151a G A 4: 106,605,395 (GRCm39) V586M probably damaging Het
Fap T G 2: 62,385,114 (GRCm39) Y54S possibly damaging Het
Grhl1 A G 12: 24,630,746 (GRCm39) probably null Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Kat6b C T 14: 21,720,555 (GRCm39) R1745C probably damaging Het
Kdm5a T C 6: 120,389,267 (GRCm39) L898P probably damaging Het
Lipo5 T C 19: 33,445,317 (GRCm39) Q84R unknown Het
Mfn1 G A 3: 32,617,173 (GRCm39) M18I probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Mtfmt T C 9: 65,354,586 (GRCm39) probably null Het
Nsun2 C G 13: 69,775,767 (GRCm39) Q404E probably benign Het
Or1j17 T C 2: 36,578,559 (GRCm39) S182P probably benign Het
Or2at4 C T 7: 99,384,377 (GRCm39) S9L possibly damaging Het
Or52d1 A G 7: 103,755,779 (GRCm39) M98V probably damaging Het
Or5b123 C T 19: 13,597,249 (GRCm39) A241V probably benign Het
Or5j3 T A 2: 86,129,019 (GRCm39) N286K probably damaging Het
Or5p70 G T 7: 107,995,035 (GRCm39) S236I possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Parp9 A G 16: 35,773,996 (GRCm39) I90V possibly damaging Het
Pate7 A T 9: 35,688,442 (GRCm39) S48T possibly damaging Het
Pax2 T A 19: 44,779,175 (GRCm39) S183T probably damaging Het
Pcdha11 T C 18: 37,144,509 (GRCm39) L200P probably damaging Het
Pcdhb4 T C 18: 37,441,482 (GRCm39) V264A possibly damaging Het
Plch1 G T 3: 63,606,279 (GRCm39) N1199K possibly damaging Het
Ptpn22 A G 3: 103,819,331 (GRCm39) N795S probably damaging Het
Qars1 T C 9: 108,385,297 (GRCm39) S6P probably benign Het
Sema3a T C 5: 13,630,969 (GRCm39) Y502H probably damaging Het
Sema4f A G 6: 82,914,085 (GRCm39) I91T probably damaging Het
Setx T G 2: 29,030,302 (GRCm39) I247S probably damaging Het
Slc9c1 T C 16: 45,395,731 (GRCm39) L594P probably damaging Het
Tnfrsf19 A T 14: 61,208,588 (GRCm39) M311K probably benign Het
Tubgcp4 T C 2: 121,024,589 (GRCm39) I588T probably benign Het
Tyro3 T C 2: 119,643,304 (GRCm39) V655A probably damaging Het
Uba7 T A 9: 107,856,138 (GRCm39) D504E probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vldlr A G 19: 27,215,477 (GRCm39) E117G possibly damaging Het
Vmn2r44 A T 7: 8,381,005 (GRCm39) I296K probably damaging Het
Vmn2r80 T A 10: 79,017,837 (GRCm39) C521S probably damaging Het
Wnk1 A T 6: 119,949,958 (GRCm39) probably benign Het
Xpo1 T C 11: 23,237,434 (GRCm39) S766P probably damaging Het
Zcchc4 A G 5: 52,953,486 (GRCm39) N165S possibly damaging 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
R6023:Hcrtr2 UTSW 9 76,137,886 (GRCm39) missense probably benign 0.00
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'- TGGCTCAGAACATGTACAAGGG -3'
(R):5'- AGATTCCAAATTCCCAGAGATTAGCAG -3'

Sequencing Primer
(F):5'- AGGGACTGTCCAAAGAAC -3'
(R):5'- CAGCTTTAAACACACAGGTATGG -3'
Posted On 2017-08-16