Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Stc2'

281736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stc2

Ensembl Gene

ENSMUSG00000020303

Gene Name

stanniocalcin 2

Synonyms

mustc2, Stc2l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

31309441-31320061 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 31317875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020546]

AlphaFold

O88452

Predicted Effect

probably benign
Transcript: ENSMUST00000020546

SMART Domains

Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303

Domain	Start	End	E-Value	Type
Pfam:Stanniocalcin	12	215	1.4e-94	PFAM
low complexity region	271	282	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152094

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are 10-15% larger and grow at a faster rate than wild-type controls from 4 weeks onward. The increased body weight results from an increase in the weight of most major organs, with the exception of testis. Mean alkaline phosphatase levels are 144% of wild-type levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	Het

Other mutations in Stc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03330:Stc2	APN	11	31,319,804 (GRCm39)	missense	probably benign	0.01
R0016:Stc2	UTSW	11	31,310,177 (GRCm39)	missense	probably benign	0.00
R0016:Stc2	UTSW	11	31,310,177 (GRCm39)	missense	probably benign	0.00
R0025:Stc2	UTSW	11	31,315,559 (GRCm39)	splice site	probably null
R1510:Stc2	UTSW	11	31,315,418 (GRCm39)	nonsense	probably null
R4581:Stc2	UTSW	11	31,315,326 (GRCm39)	splice site	probably null
R6106:Stc2	UTSW	11	31,310,392 (GRCm39)	missense	probably benign
R6252:Stc2	UTSW	11	31,310,346 (GRCm39)	missense	probably damaging	0.98
R6675:Stc2	UTSW	11	31,310,307 (GRCm39)	missense	probably benign
R6797:Stc2	UTSW	11	31,315,351 (GRCm39)	nonsense	probably null
R7192:Stc2	UTSW	11	31,319,872 (GRCm39)	start gained	probably benign
R7545:Stc2	UTSW	11	31,317,799 (GRCm39)	missense	probably damaging	1.00
R7570:Stc2	UTSW	11	31,317,798 (GRCm39)	missense	probably damaging	1.00
R7846:Stc2	UTSW	11	31,315,413 (GRCm39)	missense	probably benign	0.13
R8057:Stc2	UTSW	11	31,317,806 (GRCm39)	nonsense	probably null
R8273:Stc2	UTSW	11	31,319,777 (GRCm39)	missense	possibly damaging	0.80
R9146:Stc2	UTSW	11	31,317,847 (GRCm39)	missense	probably damaging	0.98
R9374:Stc2	UTSW	11	31,310,332 (GRCm39)	missense	probably benign	0.00
R9499:Stc2	UTSW	11	31,310,332 (GRCm39)	missense	probably benign	0.00
R9552:Stc2	UTSW	11	31,310,332 (GRCm39)	missense	probably benign	0.00
Z1176:Stc2	UTSW	11	31,310,415 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16