Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Cort'

605325

Institutional Source

Beutler Lab

Gene Symbol

Cort

Ensembl Gene

ENSMUSG00000028971

Gene Name

cortistatin

Synonyms

CST, PCST

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF058 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

149125034-149126763 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCCACTCGT to G at 149125412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135536 (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

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	91	1.4e-36	PFAM
Pfam:CENP-T_C	18	116	2.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030815

SMART Domains

Protein: ENSMUSP00000030815
Gene: ENSMUSG00000028971

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	76	2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150150

SMART Domains

Protein: ENSMUSP00000121878
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	64	1.2e-12	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	Het

Other mutations in Cort

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Cort	APN	4	149125295	missense	probably damaging	1.00
R6537:Cort	UTSW	4	149126624	missense	probably benign
R7079:Cort	UTSW	4	149127391	missense	probably benign	0.11
R7383:Cort	UTSW	4	149125404	missense	possibly damaging	0.78
R7994:Cort	UTSW	4	149125305	missense	probably damaging	1.00
RF022:Cort	UTSW	4	149125412	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCGTTGGCATCTCACAGG -3'
(R):5'- CACTCTGACTTTGAGGGAGTG -3'

Sequencing Primer
(F):5'- TTGGCATCTCACAGGGTGGC -3'
(R):5'- AAGGAACAGTTTGCTCTCTGTG -3'

Posted On

2019-12-04