Incidental Mutation 'R9676:Crhbp'
ID 728356
Institutional Source Beutler Lab
Gene Symbol Crhbp
Ensembl Gene ENSMUSG00000021680
Gene Name corticotropin releasing hormone binding protein
Synonyms CRH-BP
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R9676 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95431371-95444924 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95442203 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 144 (Y144N)
Ref Sequence ENSEMBL: ENSMUSP00000042578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045583] [ENSMUST00000221025]
AlphaFold Q60571
Predicted Effect probably damaging
Transcript: ENSMUST00000045583
AA Change: Y144N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: Y144N

DomainStartEndE-ValueType
Pfam:CRF-BP 1 307 1.1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221025
AA Change: Y137N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,161,131 S534P possibly damaging Het
Abcb1a A T 5: 8,664,548 K23I possibly damaging Het
Arhgef1 G A 7: 24,926,076 G961E probably benign Het
Cand2 A G 6: 115,792,161 D644G probably benign Het
Ciart A G 3: 95,878,902 V287A probably benign Het
Cldn10 G T 14: 118,788,265 V37L probably damaging Het
Clec16a C A 16: 10,741,959 T1032K probably benign Het
Ddn A T 15: 98,805,371 I680N possibly damaging Het
Dock4 TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC 12: 40,844,380 probably benign Het
Dock4 TGCCGG TGCCGGGGCCGG 12: 40,844,388 probably benign Het
Dock4 GGTGCC GGTGCCTGTGCC 12: 40,844,398 probably benign Het
Dock4 CCGGTG CCGGTGACGGTG 12: 40,844,402 probably benign Het
Dock7 T C 4: 99,016,685 Y651C probably damaging Het
Ecel1 A T 1: 87,152,021 F457I probably damaging Het
Eif4h G A 5: 134,639,388 probably benign Het
Fam129b G A 2: 32,912,569 V191I probably benign Het
Focad T C 4: 88,355,445 V1073A unknown Het
Gm9195 G A 14: 72,472,227 P482S unknown Het
Ifi206 G A 1: 173,481,152 T426I Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,189,077 probably benign Het
Lpar3 T C 3: 146,284,679 C251R probably damaging Het
Lrmp T G 6: 145,174,612 W518G probably damaging Het
Lrrn4cl A G 19: 8,852,132 D158G probably benign Het
Myo5b T A 18: 74,759,160 N1632K probably benign Het
Neb T C 2: 52,170,546 K6275E possibly damaging Het
Olfr1242 A T 2: 89,493,436 M292K probably damaging Het
Olfr328 T A 11: 58,551,427 M271L probably benign Het
Olfr338 A G 2: 36,376,836 E20G probably benign Het
Phactr3 G T 2: 178,284,044 E371* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,499,669 probably null Het
Plagl1 T C 10: 13,128,211 Y408H unknown Het
Pole A G 5: 110,295,565 Q385R probably benign Het
Rps15a A T 7: 118,115,138 V35D probably benign Het
Sh3rf2 C T 18: 42,149,795 P505S probably benign Het
Srrm4 T C 5: 116,446,722 probably benign Het
Tenm4 G T 7: 96,895,431 R2255L probably damaging Het
Ttc29 A G 8: 78,333,755 T435A probably benign Het
Vmn2r79 T C 7: 87,037,244 V611A probably damaging Het
Zfp568 T C 7: 30,022,398 V256A probably benign Het
Zfyve26 T C 12: 79,284,185 K420R probably benign Het
Other mutations in Crhbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Crhbp APN 13 95443787 missense probably damaging 0.96
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
X0052:Crhbp UTSW 13 95431993 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGGCTTAAGTCTGTGAG -3'
(R):5'- GAAAGCGACTGTGTATGTCTG -3'

Sequencing Primer
(F):5'- TCTTTACAAAGCAGAAGTGACCG -3'
(R):5'- AAAGCGACTGTGTATGTCTGTACTG -3'
Posted On 2022-10-06