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? Probably non essential (E-score: 0.172) question?
Stock # IGL03058
Quality Score
Chromosome 13
Chromosomal Location 95431371-95444924 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95443798 bp (GRCm38)
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

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
4931440F15Rik T C 11: 29,824,656 D267G probably benign Het
Abcg3 A G 5: 104,961,246 V395A probably benign Het
Adck1 A T 12: 88,459,130 T443S probably benign Het
Axdnd1 G A 1: 156,376,663 A541V probably benign Het
B020011L13Rik A G 1: 117,782,969 D35G possibly damaging Het
Bmp3 T G 5: 98,872,094 I125M probably damaging Het
Cdc40 T C 10: 40,849,828 E215G probably benign Het
Ces1f A G 8: 93,269,972 probably null Het
Chd8 A C 14: 52,218,273 V986G probably damaging Het
Clca4a A T 3: 144,961,834 probably benign Het
Dgkh T A 14: 78,627,797 H53L probably benign Het
Dnajc1 T C 2: 18,217,321 D532G possibly damaging Het
Dot1l T C 10: 80,790,997 S230P probably benign Het
Evi5 C T 5: 107,748,151 V809M probably damaging Het
Fbn1 T A 2: 125,403,200 M256L probably benign Het
Fgfr2 C T 7: 130,182,692 D292N probably damaging Het
Fmn1 C T 2: 113,441,814 probably benign Het
Gm12394 G A 4: 42,793,764 L123F probably damaging Het
Htatsf1 T A X: 57,058,921 D203E probably damaging Het
Kcnh1 T A 1: 192,434,891 L51Q probably damaging Het
Lamp5 A T 2: 136,069,127 H260L probably benign Het
Mindy4 T A 6: 55,308,198 V659D probably damaging Het
Mkks C A 2: 136,876,170 L397F probably damaging Het
Ncan G A 8: 70,107,932 S795F possibly damaging Het
Olfr1006 T C 2: 85,674,681 I157V probably benign Het
Olfr159 A C 4: 43,770,255 F252C probably damaging Het
Papolg T C 11: 23,895,029 M4V probably benign Het
Pdk3 A T X: 93,802,286 I143N probably benign Het
Polr2a A T 11: 69,745,047 probably null Het
Prc1 C T 7: 80,301,125 T78I probably benign Het
Ret C A 6: 118,175,067 D569Y probably damaging Het
Samd9l G T 6: 3,374,980 N760K probably damaging Het
Slc5a12 T A 2: 110,640,792 S460T probably benign Het
Slco1c1 A G 6: 141,563,187 I573M probably benign Het
Steap4 A G 5: 7,975,664 D75G probably benign Het
Tcf20 A G 15: 82,852,004 F1749L probably damaging Het
Thbs2 T C 17: 14,689,969 T123A possibly damaging Het
Tmc3 T C 7: 83,615,886 S663P possibly damaging Het
Vmn2r121 G T X: 124,132,921 H180N probably benign Het
Vnn1 T C 10: 23,904,544 F477L probably benign Het
Xpnpep2 A G X: 48,125,425 probably null Het
Zfand4 T C 6: 116,288,077 F168L probably benign Het
Other mutations in Crhbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Crhbp APN 13 95443787 missense probably damaging 0.96
R0518:Crhbp UTSW 13 95443895 critical splice acceptor site probably null
R0521:Crhbp UTSW 13 95443895 critical splice acceptor site probably null
R1120:Crhbp UTSW 13 95442085 missense probably benign 0.01
R4417:Crhbp UTSW 13 95443877 missense probably benign 0.02
R4925:Crhbp UTSW 13 95443810 missense possibly damaging 0.93
R4999:Crhbp UTSW 13 95442245 missense probably damaging 1.00
R5332:Crhbp UTSW 13 95436455 missense probably damaging 0.99
R5568:Crhbp UTSW 13 95442229 missense probably damaging 1.00
R5857:Crhbp UTSW 13 95442232 missense probably benign 0.01
R5861:Crhbp UTSW 13 95443825 missense probably damaging 1.00
R5875:Crhbp UTSW 13 95443796 missense probably benign 0.00
R5911:Crhbp UTSW 13 95432056 missense probably benign 0.00
R6235:Crhbp UTSW 13 95443850 missense probably damaging 1.00
R7038:Crhbp UTSW 13 95444191 missense probably damaging 1.00
R7885:Crhbp UTSW 13 95432007 missense probably damaging 0.96
R8479:Crhbp UTSW 13 95442124 missense possibly damaging 0.94
R9269:Crhbp UTSW 13 95436516 missense probably benign
R9676:Crhbp UTSW 13 95442203 missense probably damaging 1.00
X0052:Crhbp UTSW 13 95431993 missense probably damaging 1.00
Posted On 2016-08-02