Incidental Mutation 'R4417:Crhbp'
ID 326899
Institutional Source Beutler Lab
Gene Symbol Crhbp
Ensembl Gene ENSMUSG00000021680
Gene Name corticotropin releasing hormone binding protein
Synonyms CRH-BP
MMRRC Submission 041138-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R4417 (G1)
Quality Score 205
Status Validated
Chromosome 13
Chromosomal Location 95567884-95581339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95580385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 65 (S65G)
Ref Sequence ENSEMBL: ENSMUSP00000152083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045583] [ENSMUST00000221025]
AlphaFold Q60571
Predicted Effect probably benign
Transcript: ENSMUST00000045583
AA Change: S72G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: S72G

DomainStartEndE-ValueType
Pfam:CRF-BP 1 307 1.1e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221025
AA Change: S65G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.1845 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (53/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T A 1: 85,654,184 (GRCm39) Y51F probably damaging Het
Abi3bp C A 16: 56,474,398 (GRCm39) T631K probably damaging Het
BC004004 G A 17: 29,501,249 (GRCm39) probably benign Het
Cabp1 G A 5: 115,324,096 (GRCm39) S7L possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Clhc1 T C 11: 29,521,826 (GRCm39) I453T possibly damaging Het
Col28a1 T A 6: 8,175,666 (GRCm39) I61F possibly damaging Het
Col2a1 T C 15: 97,896,466 (GRCm39) E61G unknown Het
Col6a4 C T 9: 105,949,215 (GRCm39) V807I probably damaging Het
Dnah9 T A 11: 65,872,040 (GRCm39) Q2730L possibly damaging Het
Epx T A 11: 87,760,256 (GRCm39) R453* probably null Het
Fez1 T C 9: 36,781,768 (GRCm39) probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glp2r T C 11: 67,555,342 (GRCm39) probably benign Het
Gpm6a T A 8: 55,503,223 (GRCm39) N157K probably damaging Het
Kcnj2 T C 11: 110,963,015 (GRCm39) S136P probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lcp2 G T 11: 34,000,917 (GRCm39) E33D probably benign Het
Lrrc32 G T 7: 98,148,144 (GRCm39) R308L probably benign Het
Matr3 C A 18: 35,705,171 (GRCm39) A32D probably damaging Het
Mfsd12 A G 10: 81,200,537 (GRCm39) probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Notch2 A G 3: 98,038,586 (GRCm39) D1243G possibly damaging Het
Odf2 T A 2: 29,805,333 (GRCm39) probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or4c125 T C 2: 89,170,331 (GRCm39) E105G probably benign Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pitpnm2 G T 5: 124,261,632 (GRCm39) R977S probably damaging Het
Prdm13 T C 4: 21,678,756 (GRCm39) E578G probably benign Het
Pum3 A G 19: 27,400,116 (GRCm39) I183T probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Slit1 A G 19: 41,602,908 (GRCm39) C968R probably damaging Het
Spag9 A T 11: 93,951,172 (GRCm39) probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Stradb T C 1: 59,033,531 (GRCm39) V398A probably benign Het
Tlr4 A T 4: 66,757,540 (GRCm39) N111I probably damaging Het
Tnip2 G A 5: 34,660,925 (GRCm39) R176* probably null Het
Tomm7 A G 5: 24,048,977 (GRCm39) I32T probably benign Het
Trank1 T C 9: 111,195,036 (GRCm39) I1020T probably benign Het
Ugt1a10 T G 1: 87,983,717 (GRCm39) S172A probably benign Het
Vmn2r115 T A 17: 23,564,854 (GRCm39) M247K probably benign Het
Zfp341 T C 2: 154,470,907 (GRCm39) L308P possibly damaging Het
Zmym6 T C 4: 126,986,781 (GRCm39) S154P probably damaging Het
Other mutations in Crhbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Crhbp APN 13 95,580,295 (GRCm39) missense probably damaging 0.96
IGL03058:Crhbp APN 13 95,580,306 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCACTTAGAGGTTTAGTTGTCCC -3'
(R):5'- GCTTGCAGGATATCTGGTCG -3'

Sequencing Primer
(F):5'- AGAGGTTTAGTTGTCCCCCACATG -3'
(R):5'- TGGGTTGCAGCATCCAC -3'
Posted On 2015-07-07