Incidental Mutation 'IGL00090:Cort'
ID 1685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cort
Ensembl Gene ENSMUSG00000028971
Gene Name cortistatin
Synonyms PCST, CST
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00090
Quality Score
Status
Chromosome 4
Chromosomal Location 149209491-149211220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149209752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 100 (F100S)
Ref Sequence ENSEMBL: ENSMUSP00000030815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030813] [ENSMUST00000030815] [ENSMUST00000030816] [ENSMUST00000105696] [ENSMUST00000150150] [ENSMUST00000176124] [ENSMUST00000177408]
AlphaFold P56469
Predicted Effect probably benign
Transcript: ENSMUST00000030813
SMART Domains Protein: ENSMUSP00000030813
Gene: ENSMUSG00000073705

DomainStartEndE-ValueType
Pfam:CENP-S 16 91 1.4e-36 PFAM
Pfam:CENP-T_C 18 116 2.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030815
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030815
Gene: ENSMUSG00000028971
AA Change: F100S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
Pfam:Somatostatin 91 108 9.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030816
SMART Domains Protein: ENSMUSP00000030816
Gene: ENSMUSG00000028974

DomainStartEndE-ValueType
CAD 19 94 1.79e-47 SMART
Pfam:DFF-C 100 264 1.1e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105696
SMART Domains Protein: ENSMUSP00000101321
Gene: ENSMUSG00000073705

DomainStartEndE-ValueType
Pfam:CENP-S 16 76 2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132672
Predicted Effect probably benign
Transcript: ENSMUST00000150150
SMART Domains Protein: ENSMUSP00000121878
Gene: ENSMUSG00000073705

DomainStartEndE-ValueType
Pfam:CENP-S 1 26 7.3e-14 PFAM
low complexity region 43 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176124
SMART Domains Protein: ENSMUSP00000134756
Gene: ENSMUSG00000073705

DomainStartEndE-ValueType
Pfam:CENP-S 1 26 1.4e-13 PFAM
low complexity region 43 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177408
SMART Domains Protein: ENSMUSP00000135536
Gene: ENSMUSG00000073705

DomainStartEndE-ValueType
Pfam:CENP-S 16 64 1.2e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the somatostatin family of multifunctional peptides attributed with neurohormone, neurotransmitter/modulator and autocrine/paracrine actions. The encoded preproprotein undergoes proteolytic processing to generate a mature functional peptide that can bind to somatostatin receptors. Mice lacking the encoded protein exhibit elevated levels of growth hormone in the plasma without major changes in somatic growth and have exacerbated nociceptive responses to neuropathic and inflammatory pain sensitization. Transgenic mice overexpressing the encoded protein in neurons do not express long-term potentiation in the dentate gyrus and exhibit deficits in synaptic plasticity and learning. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating growth hormone and adrenocorticotropin, decreased serum prolactin, and insulin resistance and increased serum glucose level in male mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Cort
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6537:Cort UTSW 4 149,211,081 (GRCm39) missense probably benign
R7079:Cort UTSW 4 149,211,848 (GRCm39) missense probably benign 0.11
R7383:Cort UTSW 4 149,209,861 (GRCm39) missense possibly damaging 0.78
R7994:Cort UTSW 4 149,209,762 (GRCm39) missense probably damaging 1.00
RF022:Cort UTSW 4 149,209,869 (GRCm39) unclassified probably benign
RF058:Cort UTSW 4 149,209,869 (GRCm39) unclassified probably benign
Posted On 2011-07-12