Incidental Mutation 'IGL03058:Crhbp'
ID 409329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crhbp
Ensembl Gene ENSMUSG00000021680
Gene Name corticotropin releasing hormone binding protein
Synonyms CRH-BP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # IGL03058
Quality Score
Status
Chromosome 13
Chromosomal Location 95567884-95581339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95580306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 91 (E91V)
Ref Sequence ENSEMBL: ENSMUSP00000152083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045583] [ENSMUST00000221025]
AlphaFold Q60571
Predicted Effect probably damaging
Transcript: ENSMUST00000045583
AA Change: E98V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: E98V

DomainStartEndE-ValueType
Pfam:CRF-BP 1 307 1.1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221025
AA Change: E91V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display behavior indicative of increased anxiety. Male mice also show reduced food intake resulting in reduced growth between ages 7 and 15 weeks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Cdc40 T C 10: 40,725,824 (GRCm39) E215G probably benign Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Htatsf1 T A X: 56,104,281 (GRCm39) D203E probably damaging Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or13c7d A C 4: 43,770,255 (GRCm39) F252C probably damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Pdk3 A T X: 92,845,892 (GRCm39) I143N probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Xpnpep2 A G X: 47,214,302 (GRCm39) probably null Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Crhbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Crhbp APN 13 95,580,295 (GRCm39) missense probably damaging 0.96
R0518:Crhbp UTSW 13 95,580,403 (GRCm39) critical splice acceptor site probably null
R0521:Crhbp UTSW 13 95,580,403 (GRCm39) critical splice acceptor site probably null
R1120:Crhbp UTSW 13 95,578,593 (GRCm39) missense probably benign 0.01
R4417:Crhbp UTSW 13 95,580,385 (GRCm39) missense probably benign 0.02
R4925:Crhbp UTSW 13 95,580,318 (GRCm39) missense possibly damaging 0.93
R4999:Crhbp UTSW 13 95,578,753 (GRCm39) missense probably damaging 1.00
R5332:Crhbp UTSW 13 95,572,963 (GRCm39) missense probably damaging 0.99
R5568:Crhbp UTSW 13 95,578,737 (GRCm39) missense probably damaging 1.00
R5857:Crhbp UTSW 13 95,578,740 (GRCm39) missense probably benign 0.01
R5861:Crhbp UTSW 13 95,580,333 (GRCm39) missense probably damaging 1.00
R5875:Crhbp UTSW 13 95,580,304 (GRCm39) missense probably benign 0.00
R5911:Crhbp UTSW 13 95,568,564 (GRCm39) missense probably benign 0.00
R6235:Crhbp UTSW 13 95,580,358 (GRCm39) missense probably damaging 1.00
R7038:Crhbp UTSW 13 95,580,699 (GRCm39) missense probably damaging 1.00
R7885:Crhbp UTSW 13 95,568,515 (GRCm39) missense probably damaging 0.96
R8479:Crhbp UTSW 13 95,578,632 (GRCm39) missense possibly damaging 0.94
R9269:Crhbp UTSW 13 95,573,024 (GRCm39) missense probably benign
R9676:Crhbp UTSW 13 95,578,711 (GRCm39) missense probably damaging 1.00
X0052:Crhbp UTSW 13 95,568,501 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02