Incidental Mutation 'IGL02156:Crhr1'
ID282224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crhr1
Ensembl Gene ENSMUSG00000018634
Gene Namecorticotropin releasing hormone receptor 1
SynonymsCRF 1 receptor, CRFR1, CRF-R1alpha
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02156
Quality Score
Status
Chromosome11
Chromosomal Location104132855-104175523 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 104163883 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 107 (N107K)
Ref Sequence ENSEMBL: ENSMUSP00000091455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093925]
Predicted Effect probably benign
Transcript: ENSMUST00000093925
AA Change: N107K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091455
Gene: ENSMUSG00000018634
AA Change: N107K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
HormR 40 111 5.59e-26 SMART
Pfam:7tm_2 116 359 7.2e-81 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a G-protein coupled receptor that binds corticotropin-releasing factor (CRH) and urocortin (UCN) with high affinity. The encoded protein upregulates adenylate cyclase activity and intracellular cAMP levels. This protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response, and obesity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal zona fasciculata, low adrenocorticotropic hormone production, and reduced anxiety-related behaviors. Progeny of homozygote matings die from lung dysplasia within 48 hours of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,871,307 noncoding transcript Het
Adam33 G A 2: 131,053,158 probably benign Het
Akr7a5 C A 4: 139,314,269 A163D probably damaging Het
Arap1 T C 7: 101,388,730 probably benign Het
Arhgap8 A G 15: 84,770,035 I306V possibly damaging Het
Asf1a C T 10: 53,606,143 A17V probably benign Het
Atp1a4 A T 1: 172,257,962 S25T probably benign Het
BC030867 C T 11: 102,255,039 S47F probably damaging Het
Cbln4 T C 2: 172,042,208 I31V probably benign Het
Ccdc93 T G 1: 121,448,276 L172R possibly damaging Het
Ceacam9 T C 7: 16,723,619 probably benign Het
Cyp11b1 T A 15: 74,835,797 M488L probably benign Het
Dnah7a A G 1: 53,419,723 V3752A probably benign Het
Dnhd1 G A 7: 105,721,744 V4744M probably damaging Het
Dstyk C A 1: 132,449,926 N423K probably benign Het
Exph5 T C 9: 53,375,641 S1341P probably damaging Het
Fam161b T C 12: 84,354,753 H409R probably benign Het
Fbxo21 A G 5: 117,994,668 probably benign Het
Flt1 A G 5: 147,681,741 I230T probably damaging Het
Gm9931 T C 1: 147,281,628 noncoding transcript Het
Grk6 T C 13: 55,449,361 F36L possibly damaging Het
Grm1 G T 10: 10,719,976 A636D probably damaging Het
Hectd1 A T 12: 51,754,133 probably benign Het
Hltf G A 3: 20,092,807 V577I possibly damaging Het
Lrrc8c A G 5: 105,607,493 D378G probably damaging Het
Mcoln1 C A 8: 3,512,657 S6* probably null Het
Meis1 A T 11: 19,011,292 S194T probably benign Het
Myo1h A C 5: 114,353,911 probably benign Het
Nop9 T A 14: 55,753,283 C557* probably null Het
Nrap T C 19: 56,321,000 D1619G probably damaging Het
Olfr1314 A T 2: 112,092,016 H228Q probably benign Het
Olfr854 A G 9: 19,567,198 M59T probably damaging Het
Olfr934 T A 9: 38,982,546 Y166F possibly damaging Het
Pard3b T A 1: 61,767,950 D41E possibly damaging Het
Parp14 G T 16: 35,858,597 Q334K probably benign Het
Phf3 A T 1: 30,808,778 I1228K probably damaging Het
Polr1b T A 2: 129,123,879 F814I probably benign Het
Rsph1 T G 17: 31,258,116 S282R probably benign Het
Son T C 16: 91,656,104 S580P possibly damaging Het
Sptbn5 G T 2: 120,047,617 probably benign Het
Ssr2 T A 3: 88,583,788 probably null Het
Tfpt A G 7: 3,629,040 S24P probably damaging Het
Tg A G 15: 66,705,348 T1507A probably benign Het
Trpm7 A G 2: 126,799,243 probably benign Het
Wwox G A 8: 114,448,159 probably null Het
Ythdf2 C T 4: 132,204,508 R447H possibly damaging Het
Zfp385c A G 11: 100,629,019 F368S probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zhx1 A C 15: 58,054,049 V267G possibly damaging Het
Other mutations in Crhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0764:Crhr1 UTSW 11 104159326 missense probably damaging 0.99
R1386:Crhr1 UTSW 11 104174394 missense possibly damaging 0.86
R1812:Crhr1 UTSW 11 104169147 missense probably damaging 1.00
R1822:Crhr1 UTSW 11 104133072 start codon destroyed probably benign
R1903:Crhr1 UTSW 11 104169849 missense probably damaging 1.00
R3427:Crhr1 UTSW 11 104173593 critical splice acceptor site probably null
R3930:Crhr1 UTSW 11 104153551 missense probably benign 0.00
R5285:Crhr1 UTSW 11 104170497 missense possibly damaging 0.94
R5537:Crhr1 UTSW 11 104163856 missense possibly damaging 0.94
R6243:Crhr1 UTSW 11 104173914 missense probably damaging 1.00
R6273:Crhr1 UTSW 11 104163856 missense possibly damaging 0.94
R7372:Crhr1 UTSW 11 104163893 splice site probably null
R7664:Crhr1 UTSW 11 104169142 missense probably benign 0.01
X0021:Crhr1 UTSW 11 104169868 missense probably damaging 1.00
Posted On2015-04-16