Mutagenetix > Incidental Mutation

Incidental Mutation 'R7079:Cort'

568390

Institutional Source

Beutler Lab

Gene Symbol

Cort

Ensembl Gene

ENSMUSG00000028971

Gene Name

cortistatin

Synonyms

PCST, CST

MMRRC Submission

045173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149209491-149211220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 149211848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 85 (G85R)

Ref Sequence

ENSEMBL: ENSMUSP00000101321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030813] [ENSMUST00000030815] [ENSMUST00000105695] [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: ENSMUST00000105695

SMART Domains

Protein: ENSMUSP00000101320
Gene: ENSMUSG00000073705

Domain	Start	End	E-Value	Type
Pfam:CENP-S	16	75	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105696
AA Change: G85R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101321
Gene: ENSMUSG00000073705
AA Change: G85R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (50/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,402,323 (GRCm39)	L405S	possibly damaging	Het
2310009B15Rik	T	A	1: 138,779,865 (GRCm39)	Q129L	possibly damaging	Het
4921509C19Rik	T	G	2: 151,315,198 (GRCm39)	D160A	probably damaging	Het
Aspn	A	G	13: 49,720,031 (GRCm39)	Y349C	probably damaging	Het
Atp2b1	A	G	10: 98,854,595 (GRCm39)	T1063A	probably benign	Het
BC035947	T	C	1: 78,474,552 (GRCm39)	E660G	probably damaging	Het
Cadps2	A	G	6: 23,323,408 (GRCm39)	L970P	probably damaging	Het
Caskin1	T	C	17: 24,717,858 (GRCm39)	I215T	probably benign	Het
Cyp1a2	T	C	9: 57,589,161 (GRCm39)	I218V	probably benign	Het
Egfem1	T	A	3: 29,207,731 (GRCm39)	H140Q	probably benign	Het
Elapor2	A	G	5: 9,449,253 (GRCm39)	Y127C	probably damaging	Het
Fbln5	G	A	12: 101,723,667 (GRCm39)	P345S	probably damaging	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Gfpt2	G	A	11: 49,728,578 (GRCm39)	V679I	possibly damaging	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Grm1	T	C	10: 10,955,702 (GRCm39)	D194G	probably damaging	Het
Hectd1	G	A	12: 51,834,638 (GRCm39)	T875M	possibly damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hhat	T	C	1: 192,235,354 (GRCm39)	H434R	possibly damaging	Het
Itpripl2	A	G	7: 118,090,092 (GRCm39)	F156L	possibly damaging	Het
Kctd11	A	G	11: 69,770,847 (GRCm39)	Y64H	probably damaging	Het
Lmln	T	C	16: 32,887,661 (GRCm39)	L97P	probably benign	Het
Lrrc30	T	C	17: 67,939,016 (GRCm39)	D188G	possibly damaging	Het
Mmd	T	A	11: 90,158,325 (GRCm39)		probably null	Het
Nav3	G	A	10: 109,603,153 (GRCm39)	S1132L	probably benign	Het
Or1l4	C	A	2: 37,092,185 (GRCm39)	H311N	probably benign	Het
Or4c101	C	A	2: 88,389,853 (GRCm39)	N2K	probably damaging	Het
Or52ab7	C	T	7: 102,978,391 (GRCm39)	R233C	probably benign	Het
Pcdh15	A	G	10: 74,152,957 (GRCm39)	T421A	probably benign	Het
Pfkm	G	A	15: 97,992,963 (GRCm39)	R7H	probably benign	Het
Psme2b	A	G	11: 48,836,443 (GRCm39)	F168S	probably damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn13	T	C	5: 103,649,752 (GRCm39)	V385A	probably benign	Het
Reep5	G	A	18: 34,480,176 (GRCm39)	T189I	probably damaging	Het
Sacm1l	T	A	9: 123,399,062 (GRCm39)	Y272N	probably damaging	Het
Slc26a6	T	A	9: 108,735,147 (GRCm39)	H348Q	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spata31f1a	T	C	4: 42,851,718 (GRCm39)	E146G	probably benign	Het
Stkld1	A	G	2: 26,839,359 (GRCm39)	I342V	probably benign	Het
Trim23	A	T	13: 104,323,801 (GRCm39)		probably null	Het
Trmt13	T	C	3: 116,376,480 (GRCm39)	T304A	probably benign	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Ubqln3	A	T	7: 103,790,578 (GRCm39)	I504K	probably benign	Het
Uhrf2	T	G	19: 30,060,190 (GRCm39)	N519K	probably null	Het
Wdr93	T	C	7: 79,399,040 (GRCm39)	M58T	probably damaging	Het
Wwc2	G	A	8: 48,300,580 (GRCm39)	T961M	unknown	Het
Zfp35	C	T	18: 24,136,357 (GRCm39)	H234Y	possibly damaging	Het
Zscan21	C	T	5: 138,124,728 (GRCm39)	P215S	probably benign	Het

Other mutations in Cort

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Cort	APN	4	149,209,752 (GRCm39)	missense	probably damaging	1.00
R6537:Cort	UTSW	4	149,211,081 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGGATGAACCAAGAGCATGTCC -3'
(R):5'- AGTCTATCGACGTGCATGTCTAC -3'

Sequencing Primer
(F):5'- AGAGCATGTCCCAGACTGC -3'
(R):5'- TCAGAGGTCAAGTTTGTTAGGAACC -3'

Posted On

2019-07-16