Incidental Mutation 'IGL00090:Cort'
ID1685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cort
Ensembl Gene ENSMUSG00000028971
Gene Namecortistatin
SynonymsCST, PCST
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00090
Quality Score
Status
Chromosome4
Chromosomal Location149125034-149126763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 149125295 bp
ZygosityHeterozygous
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]
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
4932415D10Rik T G 10: 82,283,752 M4475L probably benign Het
Abcb5 T C 12: 118,890,610 T857A probably benign Het
Abcc9 A T 6: 142,633,190 probably benign Het
Adam11 A G 11: 102,776,831 T709A probably benign Het
Adgre1 A G 17: 57,450,055 I771V probably benign Het
Adgrv1 T G 13: 81,405,408 probably null Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Adra1d G T 2: 131,561,677 D164E possibly damaging Het
Ago3 A G 4: 126,371,541 L319P probably damaging Het
Aim2 A G 1: 173,455,465 S38G probably benign Het
Apoh A G 11: 108,395,834 D28G probably benign Het
Atm C T 9: 53,524,443 R189K probably damaging Het
Bbs1 T C 19: 4,893,010 T451A probably benign Het
BC034090 T C 1: 155,225,447 D719G possibly damaging Het
Bcr T C 10: 75,157,071 probably benign Het
Bmp2 A T 2: 133,561,027 Q166L probably benign Het
Bms1 A T 6: 118,404,583 S665T probably benign Het
Ccser1 A T 6: 62,380,142 T855S possibly damaging Het
Cfap36 C T 11: 29,222,875 V217M probably benign Het
Clca3b T C 3: 144,836,632 N470D probably damaging Het
Cyp4f14 G T 17: 32,914,566 D105E probably benign Het
Dnah1 A G 14: 31,287,873 S1913P probably benign Het
Fam91a1 A T 15: 58,430,735 H308L probably damaging Het
Fbn1 A C 2: 125,324,947 I2016M probably damaging Het
Fibcd1 T A 2: 31,833,874 Q251L possibly damaging Het
Flg2 T A 3: 93,202,109 Y481* probably null Het
Ly9 A T 1: 171,593,451 I624N probably damaging Het
Mapt C T 11: 104,322,485 S301L probably damaging Het
Meiob G A 17: 24,823,629 V144I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo5a T A 9: 75,161,497 C660* probably null Het
Necab3 G T 2: 154,547,568 probably benign Het
Nr2c2ap A G 8: 70,132,629 Y93C probably damaging Het
Nxpe5 A G 5: 138,248,834 D356G probably benign Het
Olfr1331 T A 4: 118,869,287 Y168N probably damaging Het
Olfr225 A T 11: 59,613,321 Y119F possibly damaging Het
Plce1 A G 19: 38,745,788 Q1544R probably damaging Het
Plppr4 T A 3: 117,322,220 T605S probably benign Het
Poglut1 C A 16: 38,542,916 W167L possibly damaging Het
Pou2f1 G T 1: 165,902,298 R162S probably damaging Het
Ptprf A G 4: 118,223,220 probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Rexo2 A G 9: 48,474,447 S126P probably damaging Het
Robo4 A G 9: 37,411,104 S844G probably damaging Het
Scn7a A G 2: 66,683,327 probably benign Het
Sdc1 A G 12: 8,790,459 T75A possibly damaging Het
Slc38a4 C T 15: 97,019,809 E12K probably benign Het
Tbck T C 3: 132,743,093 probably null Het
Tex2 A T 11: 106,568,535 V23E probably damaging Het
Zfp770 A G 2: 114,195,932 V552A probably benign Het
Zfyve26 T C 12: 79,249,460 probably benign Het
Other mutations in Cort
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6537:Cort UTSW 4 149126624 missense probably benign
Posted On2011-07-12