Incidental Mutation 'R0764:Crhr1'
ID 72562
Institutional Source Beutler Lab
Gene Symbol Crhr1
Ensembl Gene ENSMUSG00000018634
Gene Name corticotropin releasing hormone receptor 1
Synonyms CRF 1 receptor, CRFR1, CRF1R, CRF-R1alpha
MMRRC Submission 038944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R0764 (G1)
Quality Score 193
Status Validated
Chromosome 11
Chromosomal Location 104023681-104066349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104050152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 66 (R66W)
Ref Sequence ENSEMBL: ENSMUSP00000091455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093925]
AlphaFold P35347
Predicted Effect probably damaging
Transcript: ENSMUST00000093925
AA Change: R66W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091455
Gene: ENSMUSG00000018634
AA Change: R66W

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
Meta Mutation Damage Score 0.1730 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.1%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,950,772 (GRCm39) Y898N probably damaging Het
Acp4 T C 7: 43,901,738 (GRCm39) probably benign Het
Adipor2 T C 6: 119,334,215 (GRCm39) I332V probably benign Het
Ago3 T A 4: 126,248,885 (GRCm39) K555N possibly damaging Het
Angpt4 A G 2: 151,753,204 (GRCm39) probably benign Het
Ano5 G T 7: 51,187,590 (GRCm39) probably benign Het
Ap3b1 C T 13: 94,616,387 (GRCm39) probably benign Het
Cbl A T 9: 44,075,449 (GRCm39) C399S probably damaging Het
Cdkl2 C A 5: 92,168,136 (GRCm39) V353L probably benign Het
Celsr3 A G 9: 108,705,017 (GRCm39) Y500C probably damaging Het
Cep162 A G 9: 87,083,798 (GRCm39) S1242P probably damaging Het
Ddx49 T C 8: 70,749,907 (GRCm39) E170G probably benign Het
Fam193a T C 5: 34,600,685 (GRCm39) F305L probably damaging Het
Fam76a C T 4: 132,638,010 (GRCm39) G198R probably damaging Het
Gm43302 T A 5: 105,428,355 (GRCm39) I130F probably benign Het
Hectd4 T A 5: 121,424,832 (GRCm39) I745N possibly damaging Het
Ina T A 19: 47,012,087 (GRCm39) *502K probably null Het
Kdm1b A T 13: 47,222,079 (GRCm39) D506V possibly damaging Het
Lrrk2 A G 15: 91,659,249 (GRCm39) probably null Het
Ly6g2 T A 15: 75,092,572 (GRCm39) F97Y probably benign Het
Naip5 A T 13: 100,353,613 (GRCm39) D1215E probably benign Het
Neb A G 2: 52,106,879 (GRCm39) probably benign Het
Nectin2 T A 7: 19,483,096 (GRCm39) probably null Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2aj5 G T 16: 19,425,182 (GRCm39) P79T probably damaging Het
Or4a71 A G 2: 89,358,340 (GRCm39) V138A probably benign Het
Osbp A G 19: 11,961,520 (GRCm39) probably benign Het
Otog A G 7: 45,949,918 (GRCm39) D2460G probably benign Het
Pcgf1 T C 6: 83,056,150 (GRCm39) C2R probably damaging Het
Per2 C T 1: 91,357,142 (GRCm39) V674M probably damaging Het
Pias3 C T 3: 96,608,611 (GRCm39) P218S probably damaging Het
Plod3 C T 5: 137,018,437 (GRCm39) probably benign Het
Purb C T 11: 6,425,661 (GRCm39) V76M probably damaging Het
Ranbp1 C A 16: 18,058,022 (GRCm39) E181* probably null Het
Rit2 T C 18: 31,286,754 (GRCm39) probably benign Het
Rnf103 C A 6: 71,486,566 (GRCm39) T399K probably damaging Het
Slc22a13 T C 9: 119,037,746 (GRCm39) probably null Het
Slc35f4 T A 14: 49,543,796 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tnfrsf17 C T 16: 11,133,063 (GRCm39) T47M possibly damaging Het
Tram1 A G 1: 13,649,933 (GRCm39) I97T probably damaging Het
Ttc38 T C 15: 85,730,604 (GRCm39) probably benign Het
Zfp113 T A 5: 138,143,506 (GRCm39) Q248L probably damaging Het
Other mutations in Crhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Crhr1 APN 11 104,054,709 (GRCm39) missense probably benign
R1386:Crhr1 UTSW 11 104,065,220 (GRCm39) missense possibly damaging 0.86
R1812:Crhr1 UTSW 11 104,059,973 (GRCm39) missense probably damaging 1.00
R1822:Crhr1 UTSW 11 104,023,898 (GRCm39) start codon destroyed probably benign
R1903:Crhr1 UTSW 11 104,060,675 (GRCm39) missense probably damaging 1.00
R3427:Crhr1 UTSW 11 104,064,419 (GRCm39) critical splice acceptor site probably null
R3930:Crhr1 UTSW 11 104,044,377 (GRCm39) missense probably benign 0.00
R5285:Crhr1 UTSW 11 104,061,323 (GRCm39) missense possibly damaging 0.94
R5537:Crhr1 UTSW 11 104,054,682 (GRCm39) missense possibly damaging 0.94
R6243:Crhr1 UTSW 11 104,064,740 (GRCm39) missense probably damaging 1.00
R6273:Crhr1 UTSW 11 104,054,682 (GRCm39) missense possibly damaging 0.94
R7372:Crhr1 UTSW 11 104,054,719 (GRCm39) splice site probably null
R7664:Crhr1 UTSW 11 104,059,968 (GRCm39) missense probably benign 0.01
R8978:Crhr1 UTSW 11 104,064,480 (GRCm39) missense possibly damaging 0.96
R9071:Crhr1 UTSW 11 104,064,133 (GRCm39) missense probably damaging 1.00
X0021:Crhr1 UTSW 11 104,060,694 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAGCCCCTCTGAAGAAAGCGTC -3'
(R):5'- TCTCTGCAAGAATCAGCCCAGAGC -3'

Sequencing Primer
(F):5'- TCTGAAGAAAGCGTCCTTGC -3'
(R):5'- AGCCCAGAGCAAAGCTG -3'
Posted On 2013-09-30