Mutagenetix > Incidental Mutation

Incidental Mutation 'R9552:Stc2'

720561

Institutional Source

Beutler Lab

Gene Symbol

Stc2

Ensembl Gene

ENSMUSG00000020303

Gene Name

stanniocalcin 2

Synonyms

mustc2, Stc2l

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31309441-31320061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31310332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 235 (S235P)

Ref Sequence

ENSEMBL: ENSMUSP00000020546 (fasta)

Gene Model

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

AlphaFold

O88452

Predicted Effect

probably benign
Transcript: ENSMUST00000020546
AA Change: S235P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: S235P

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Gramd1c	A	T	16: 43,807,294 (GRCm39)	M356K	probably damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kcnh5	T	C	12: 75,023,334 (GRCm39)	Y578C	probably benign	Het
Lctl	A	G	9: 64,025,049 (GRCm39)	I12V	probably benign	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nid1	T	A	13: 13,677,045 (GRCm39)	I995N	probably damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rapgef4	A	G	2: 72,008,561 (GRCm39)	I246M	probably benign	Het
Rnasel	T	A	1: 153,630,673 (GRCm39)	N396K	possibly damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stt3a	T	C	9: 36,645,675 (GRCm39)	D672G	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Unc80	A	G	1: 66,717,282 (GRCm39)	D2946G	possibly damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
Z1176:Stc2	UTSW	11	31,310,415 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAGGAAAGCTTTCATGGCCC -3'
(R):5'- TTGTGAACCTGCTGCTGACC -3'

Sequencing Primer
(F):5'- CGGATGTCGGAATACTCAGACTG -3'
(R):5'- CTGACCTGCGGGGAAGATG -3'

Posted On

2022-08-09