Incidental Mutation 'IGL01591:Crhbp'
ID 91599
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: 0.154) question?
Stock # IGL01591
Quality Score
Chromosome 13
Chromosomal Location 95431371-95444924 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95443787 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 95 (I95F)
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: I102F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: I102F

Pfam:CRF-BP 1 307 1.1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221025
AA Change: I95F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G T 11: 84,243,320 G420W probably damaging Het
Adamts17 G A 7: 67,004,396 R458H probably damaging Het
Adprhl2 T C 4: 126,318,481 T82A probably damaging Het
Ccdc158 T A 5: 92,662,041 I203L probably benign Het
Commd10 C A 18: 46,963,668 S47R probably benign Het
Crb1 T C 1: 139,237,339 T1016A probably damaging Het
Cyp3a11 A T 5: 145,875,481 probably benign Het
Dsel A G 1: 111,859,695 Y1037H probably benign Het
Epha1 T C 6: 42,360,551 D898G probably damaging Het
Esr2 T A 12: 76,121,724 probably benign Het
Exosc10 T A 4: 148,562,887 probably benign Het
Fat4 A T 3: 39,010,375 R4827* probably null Het
Gm11596 A T 11: 99,792,798 C165* probably null Het
Heatr5b A G 17: 78,808,472 S852P probably benign Het
Mcm3ap C T 10: 76,470,805 P251S probably benign Het
Nmur2 A G 11: 56,026,999 V388A probably benign Het
Parp14 T C 16: 35,858,507 T364A possibly damaging Het
Rarb T A 14: 16,434,207 I370F possibly damaging Het
Rnf32 T A 5: 29,224,274 I283N probably damaging Het
Smg8 A G 11: 87,085,153 V77A probably damaging Het
Tnn T C 1: 160,125,574 E632G probably damaging Het
Trip11 A T 12: 101,883,345 S1487T probably damaging Het
Vmn2r58 T C 7: 41,865,329 K72R probably benign Het
Vmn2r92 A G 17: 18,185,161 I856V unknown Het
Other mutations in Crhbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03058:Crhbp APN 13 95443798 missense probably damaging 1.00
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 2013-12-09