Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Stc2'

343690

Institutional Source

Beutler Lab

Gene Symbol

Stc2

Ensembl Gene

ENSMUSG00000020303

Gene Name

stanniocalcin 2

Synonyms

mustc2, Stc2l

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31309441-31320061 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 31315326 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 null
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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Efhb	C	A	17: 53,733,303 (GRCm39)	A523S	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Myom2	A	G	8: 15,156,459 (GRCm39)	I769V	probably benign	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 3,993,375 (GRCm39)		probably null	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,312,284 (GRCm39)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	probably damaging	Het

Other mutations in Stc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02145:Stc2	APN	11	31,317,875 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACCAGTTGGGACTTGGCTAG -3'
(R):5'- TGCGTCATAAATTTGGCTGCATC -3'

Sequencing Primer
(F):5'- TTGTGGGAATTTCAAATCTGATGATC -3'
(R):5'- GCATCAGCAGGAAGTGTCC -3'

Posted On

2015-09-24