Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02578:Ucn'

299279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ucn

Ensembl Gene

ENSMUSG00000038676

Gene Name

urocortin

Synonyms

Ucn1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02578

Quality Score

Status

Chromosome

Chromosomal Location

31295407-31296173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31295738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 43 (W43G)

Ref Sequence

ENSEMBL: ENSMUSP00000144390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013771] [ENSMUST00000043475] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201184] [ENSMUST00000202241] [ENSMUST00000201353] [ENSMUST00000202769]

AlphaFold

P81615

Predicted Effect

probably benign
Transcript: ENSMUST00000013771

SMART Domains

Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077

Domain	Start	End	E-Value	Type
RING	26	81	8.61e-9	SMART
BBOX	121	163	1.23e-4	SMART
Blast:BBC	170	295	1e-27	BLAST
low complexity region	331	348	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043475
AA Change: W43G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035321
Gene: ENSMUSG00000038676
AA Change: W43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	56	62	N/A	INTRINSIC
CRF	81	119	4.02e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154241

SMART Domains

Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	108	175	2.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200744

SMART Domains

Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	103	163	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200833

SMART Domains

Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200864

SMART Domains

Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201171

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201184
AA Change: W43G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144390
Gene: ENSMUSG00000038676
AA Change: W43G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	56	62	N/A	INTRINSIC
CRF	81	119	4.02e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201750

Predicted Effect

probably benign
Transcript: ENSMUST00000202241

SMART Domains

Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	176	4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201353

SMART Domains

Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202769

SMART Domains

Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077

Domain	Start	End	E-Value	Type
RING	26	81	8.61e-9	SMART
BBOX	121	163	1.23e-4	SMART
Blast:BBC	170	295	1e-27	BLAST
low complexity region	331	348	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the corticotropin-releasing hormone peptide family that participates in coordinating autonomic, endocrine, and behavioral responses to stress. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional hormone. Mice lacking the encoded protein exhibit a heightened anxiety-like behaviors and a significantly reduced acoustic startle response. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mutant mice exhibit impaired hearing and reduced acoustic startle response associated with a reduction in outer hair cell length. In addition, some mutant mice exhibit elevated anxiety-like behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,023,179 (GRCm39)		probably null	Het
Ago1	T	A	4: 126,333,324 (GRCm39)	D545V	probably benign	Het
Arid2	T	C	15: 96,270,116 (GRCm39)	S1410P	probably benign	Het
Cbfa2t3	T	A	8: 123,360,187 (GRCm39)	D488V	possibly damaging	Het
Cdx2	T	C	5: 147,240,094 (GRCm39)	D194G	probably damaging	Het
Cyp4a32	A	G	4: 115,466,939 (GRCm39)	Q208R	possibly damaging	Het
Degs1	A	C	1: 182,106,592 (GRCm39)	Y222*	probably null	Het
Dnah7a	T	A	1: 53,472,074 (GRCm39)	E3564D	probably benign	Het
Dsg4	A	T	18: 20,604,250 (GRCm39)	I906F	possibly damaging	Het
Elovl3	A	G	19: 46,123,132 (GRCm39)	H236R	possibly damaging	Het
Foxp2	A	G	6: 15,376,814 (GRCm39)		probably benign	Het
Gm9892	A	T	8: 52,649,328 (GRCm39)		noncoding transcript	Het
Herc2	A	G	7: 55,756,283 (GRCm39)		probably null	Het
Hhat	A	G	1: 192,376,221 (GRCm39)	V304A	probably damaging	Het
Il16	C	T	7: 83,327,194 (GRCm39)		probably null	Het
Kansl1l	G	A	1: 66,840,848 (GRCm39)	Q151*	probably null	Het
Kmt2c	G	T	5: 25,571,198 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,412,032 (GRCm39)	N18S	probably benign	Het
Lcor	G	T	19: 41,547,589 (GRCm39)	G391V	probably damaging	Het
Mical2	A	T	7: 111,950,580 (GRCm39)	T845S	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mphosph8	C	T	14: 56,911,667 (GRCm39)	A230V	probably benign	Het
Myh2	T	A	11: 67,077,517 (GRCm39)	M884K	probably benign	Het
Nlrp3	T	C	11: 59,439,227 (GRCm39)	L268P	probably damaging	Het
Ntng1	T	A	3: 110,042,710 (GRCm39)	T39S	probably benign	Het
Or10ag58	T	A	2: 87,265,401 (GRCm39)	I190K	probably damaging	Het
Or1j14	A	C	2: 36,418,156 (GRCm39)	H244P	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Pde4b	T	A	4: 102,112,494 (GRCm39)	M26K	possibly damaging	Het
Polh	G	A	17: 46,505,218 (GRCm39)	Q133*	probably null	Het
Postn	A	T	3: 54,284,625 (GRCm39)	N647I	possibly damaging	Het
Scimp	T	A	11: 70,682,387 (GRCm39)	I110F	possibly damaging	Het
Sell	A	G	1: 163,893,165 (GRCm39)	D127G	probably damaging	Het
Serpinb12	G	A	1: 106,883,220 (GRCm39)		probably null	Het
She	A	G	3: 89,739,373 (GRCm39)	E188G	probably damaging	Het
Shisal2a	C	T	4: 108,225,225 (GRCm39)	M112I	probably benign	Het
Slc22a1	T	C	17: 12,886,126 (GRCm39)	Y169C	probably damaging	Het
Slco2a1	C	T	9: 102,923,957 (GRCm39)	T57I	probably damaging	Het
Sox2	A	T	3: 34,704,745 (GRCm39)	M61L	probably benign	Het
Sra1	G	A	18: 36,803,150 (GRCm39)	Q32*	probably null	Het
Syne2	T	A	12: 76,069,053 (GRCm39)	S4340T	possibly damaging	Het
Xdh	C	T	17: 74,213,241 (GRCm39)	M836I	probably damaging	Het
Xirp2	T	A	2: 67,341,591 (GRCm39)	D1277E	probably damaging	Het

Other mutations in Ucn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4932:Ucn	UTSW	5	31,295,842 (GRCm39)	missense	probably benign
R8855:Ucn	UTSW	5	31,295,857 (GRCm39)	missense	probably benign	0.33
R8866:Ucn	UTSW	5	31,295,857 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16