Incidental Mutation 'IGL02698:Crh'
ID 304037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crh
Ensembl Gene ENSMUSG00000049796
Gene Name corticotropin releasing hormone
Synonyms LOC383938, corticotropin-releasing factor, corticotropin releasing factor, CRF
Accession Numbers
Essential gene? Possibly essential (E-score: 0.560) question?
Stock # IGL02698
Quality Score
Status
Chromosome 3
Chromosomal Location 19747565-19749560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 19748354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 96 (D96A)
Ref Sequence ENSEMBL: ENSMUSP00000061185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029139] [ENSMUST00000061294]
AlphaFold Q8CIT0
Predicted Effect probably benign
Transcript: ENSMUST00000029139
SMART Domains Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913

DomainStartEndE-ValueType
RING 26 81 3.69e-8 SMART
BBOX 119 161 3.58e-6 SMART
Blast:BBC 168 294 2e-33 BLAST
PDB:4M3L|D 215 272 2e-12 PDB
low complexity region 329 355 N/A INTRINSIC
low complexity region 384 398 N/A INTRINSIC
low complexity region 474 485 N/A INTRINSIC
low complexity region 514 526 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000061294
AA Change: D96A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: D96A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 38 56 N/A INTRINSIC
CRF 146 185 1.55e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the corticotropin-releasing factor family and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a neuropeptide hormone that binds to the corticotropin releasing hormone receptors (CRHR1 and CRHR2) to stimulate the release of adrenocorticotropic hormone from the pituitary gland in response to stress. The encoded protein may also regulate angiogenesis and inflammation. Homozygous knockout mice for this gene exhibit reduced corticosterone levels while the offspring of these mice die perinatally. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have abnormal adrenal gland morphology, decreased corticosterone levels and abnormal corticosteroid responses to stress. Homozygous litters born from homozygous females display neonatal lethality, impaired lung maturation and delayedcornified and granular layer development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,014,812 (GRCm39) probably benign Het
Car8 A T 4: 8,185,598 (GRCm39) I186N probably benign Het
Ccdc174 G A 6: 91,867,834 (GRCm39) S183N probably benign Het
Ccdc66 T A 14: 27,212,749 (GRCm39) K525* probably null Het
Cebpz A G 17: 79,243,003 (GRCm39) V217A probably benign Het
Cfap36 C A 11: 29,197,014 (GRCm39) probably null Het
Cpne4 T C 9: 104,909,984 (GRCm39) V527A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcp1a A T 14: 30,227,499 (GRCm39) probably benign Het
Ddhd1 A T 14: 45,842,663 (GRCm39) probably benign Het
Dis3l2 C T 1: 86,976,551 (GRCm39) probably benign Het
Dop1a T C 9: 86,406,412 (GRCm39) probably benign Het
Etv3 A G 3: 87,443,885 (GRCm39) T490A possibly damaging Het
Fastkd2 A G 1: 63,787,158 (GRCm39) T531A probably benign Het
Fat1 C T 8: 45,476,201 (GRCm39) A1749V probably benign Het
Fgfr1 T A 8: 26,063,624 (GRCm39) L761* probably null Het
Gcc2 A G 10: 58,107,112 (GRCm39) K683E possibly damaging Het
Gm5117 C T 8: 32,229,767 (GRCm39) noncoding transcript Het
Hif1a T C 12: 73,977,545 (GRCm39) probably null Het
Inha A G 1: 75,486,527 (GRCm39) E274G probably damaging Het
Itih2 G T 2: 10,135,312 (GRCm39) P26H probably damaging Het
Kif23 G A 9: 61,832,283 (GRCm39) T620I possibly damaging Het
Klhl30 T C 1: 91,281,429 (GRCm39) F10S probably damaging Het
Kmt2b T C 7: 30,278,118 (GRCm39) probably benign Het
Lmf2 A C 15: 89,238,357 (GRCm39) L174R probably damaging Het
Med13l T C 5: 118,900,894 (GRCm39) L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 (GRCm39) L257F probably damaging Het
Net1 A G 13: 3,937,569 (GRCm39) probably null Het
Nfasc A G 1: 132,562,475 (GRCm39) V100A probably benign Het
Nr4a2 A G 2: 56,998,172 (GRCm39) F535S probably damaging Het
Ntn4 G T 10: 93,480,521 (GRCm39) A45S probably benign Het
Or2y1c T A 11: 49,361,690 (GRCm39) F237L probably benign Het
Or4a27 T A 2: 88,559,815 (GRCm39) I43F probably damaging Het
Or52a20 T C 7: 103,366,485 (GRCm39) V228A probably damaging Het
Or5w17 T A 2: 87,584,188 (GRCm39) K50* probably null Het
Or8c9 A G 9: 38,241,506 (GRCm39) T208A probably benign Het
Pappa A T 4: 65,099,257 (GRCm39) E592V probably damaging Het
Pate10 T C 9: 35,652,416 (GRCm39) probably benign Het
Pi4ka A T 16: 17,109,032 (GRCm39) I1630N probably damaging Het
Ptprb A G 10: 116,199,185 (GRCm39) D1997G probably benign Het
Rc3h2 A T 2: 37,295,312 (GRCm39) S235T probably damaging Het
S1pr1 T A 3: 115,505,746 (GRCm39) K283* probably null Het
Scn5a T A 9: 119,350,163 (GRCm39) T904S probably damaging Het
Sema6d T C 2: 124,495,643 (GRCm39) L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 (GRCm39) S83A possibly damaging Het
Slco1a6 C A 6: 142,048,737 (GRCm39) G348* probably null Het
Srgap3 C T 6: 112,723,889 (GRCm39) V524I probably damaging Het
Stxbp3-ps A T 19: 9,535,688 (GRCm39) noncoding transcript Het
Sv2b C T 7: 74,790,726 (GRCm39) probably null Het
Sympk T C 7: 18,779,559 (GRCm39) I663T probably benign Het
Ttn C A 2: 76,775,115 (GRCm39) V1976L probably damaging Het
Uqcrc1 T C 9: 108,777,011 (GRCm39) probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Other mutations in Crh
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0047:Crh UTSW 3 19,748,201 (GRCm39) missense probably damaging 1.00
R0697:Crh UTSW 3 19,748,241 (GRCm39) missense probably damaging 0.99
R0835:Crh UTSW 3 19,748,528 (GRCm39) missense probably benign 0.02
R1201:Crh UTSW 3 19,748,090 (GRCm39) missense probably damaging 0.99
R2034:Crh UTSW 3 19,748,262 (GRCm39) missense probably damaging 1.00
R2233:Crh UTSW 3 19,748,096 (GRCm39) missense probably damaging 1.00
R2234:Crh UTSW 3 19,748,096 (GRCm39) missense probably damaging 1.00
R2235:Crh UTSW 3 19,748,096 (GRCm39) missense probably damaging 1.00
R5045:Crh UTSW 3 19,748,153 (GRCm39) nonsense probably null
R5191:Crh UTSW 3 19,748,093 (GRCm39) missense probably damaging 1.00
R5283:Crh UTSW 3 19,748,171 (GRCm39) missense probably damaging 1.00
R6481:Crh UTSW 3 19,748,501 (GRCm39) missense probably benign 0.13
R6790:Crh UTSW 3 19,748,459 (GRCm39) missense probably damaging 1.00
R6865:Crh UTSW 3 19,748,304 (GRCm39) missense possibly damaging 0.56
R7259:Crh UTSW 3 19,748,418 (GRCm39) missense possibly damaging 0.64
R7758:Crh UTSW 3 19,748,453 (GRCm39) missense probably damaging 1.00
R7981:Crh UTSW 3 19,748,216 (GRCm39) missense probably benign 0.18
R8247:Crh UTSW 3 19,748,291 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16