Incidental Mutation 'R3427:Crhr1'
ID 267930
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 040645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R3427 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 104023681-104066349 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 104064419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093925] [ENSMUST00000093925]
AlphaFold P35347
Predicted Effect probably null
Transcript: ENSMUST00000093925
SMART Domains Protein: ENSMUSP00000091455
Gene: ENSMUSG00000018634

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
Predicted Effect probably null
Transcript: ENSMUST00000093925
SMART Domains Protein: ENSMUSP00000091455
Gene: ENSMUSG00000018634

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T A 9: 107,806,969 (GRCm39) F431I probably damaging Het
Asb18 C T 1: 89,896,315 (GRCm39) G242S probably damaging Het
Atp13a3 T C 16: 30,163,411 (GRCm39) I582V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bsph1 T C 7: 13,206,168 (GRCm39) Y78H probably damaging Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Cps1 T A 1: 67,213,653 (GRCm39) V795E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctbp2 A T 7: 132,593,321 (GRCm39) H793Q probably damaging Het
Cul5 T C 9: 53,529,190 (GRCm39) M805V probably benign Het
Dctn3 T C 4: 41,719,858 (GRCm39) K83E probably damaging Het
Ep300 A G 15: 81,485,480 (GRCm39) N156D unknown Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Exosc2 T C 2: 31,569,900 (GRCm39) L237P probably damaging Het
Fiz1 A G 7: 5,015,708 (GRCm39) F94S probably damaging Het
Gm5422 A G 10: 31,124,842 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,873 (GRCm39) F1280S probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kcnh1 T C 1: 191,924,238 (GRCm39) F151L probably benign Het
Nudc C T 4: 133,261,568 (GRCm39) G239S probably benign Het
Or6c215 T C 10: 129,637,720 (GRCm39) K225E possibly damaging Het
Plekhb1 T C 7: 100,294,857 (GRCm39) Y172C probably damaging Het
Plscr4 T C 9: 92,370,797 (GRCm39) S255P probably damaging Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Rps6ka4 C A 19: 6,815,123 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rttn G A 18: 89,113,775 (GRCm39) probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Strip1 T C 3: 107,524,138 (GRCm39) H593R possibly damaging Het
Sycp1 A T 3: 102,783,666 (GRCm39) C603S probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc1 C T 9: 95,614,249 (GRCm39) R5Q probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Other mutations in Crhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Crhr1 APN 11 104,054,709 (GRCm39) missense probably benign
R0764:Crhr1 UTSW 11 104,050,152 (GRCm39) missense probably damaging 0.99
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
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'- GACTATTCAGTACAGGTACCTGG -3'
(R):5'- ATGAGTGCAAATCTGGCCCC -3'

Sequencing Primer
(F):5'- ATGCTTCAGAGATTCCAGTGGCTC -3'
(R):5'- CCCCCAGGCTGGAGAAG -3'
Posted On 2015-02-18