Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Smoc2'

400653

Institutional Source

Beutler Lab

Gene Symbol

Smoc2

Ensembl Gene

ENSMUSG00000023886

Gene Name

SPARC related modular calcium binding 2

Synonyms

5430426J21Rik, 1700056C05Rik, Smoc2l

MMRRC Submission

042810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14499768-14625052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14589227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 232 (N232S)

Ref Sequence

ENSEMBL: ENSMUSP00000024660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024660]

AlphaFold

Q8CD91

Predicted Effect

probably benign
Transcript: ENSMUST00000024660
AA Change: N232S

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
AA Change: N232S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KAZAL	39	84	1.49e-12	SMART
TY	110	157	3.07e-14	SMART
low complexity region	166	177	N/A	INTRINSIC
TY	237	285	3.34e-15	SMART
Pfam:SPARC_Ca_bdg	302	412	8.6e-13	PFAM

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for one KO allele exhibit protection from induced kidney fibrosis and reduced interstitial myofibroblast accumulation. Another KO allele leads to shortening and widening of the skull. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Cish	T	A	9: 107,177,111 (GRCm39)		probably null	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nr2e3	G	T	9: 59,857,059 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or8g54	T	A	9: 39,707,492 (GRCm39)	S274T	probably damaging	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkdcc	C	A	17: 83,523,413 (GRCm39)	H173Q	probably damaging	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r122	T	C	7: 20,868,023 (GRCm39)	T11A	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably damaging	Het

Other mutations in Smoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Smoc2	APN	17	14,545,876 (GRCm39)	missense	probably damaging	1.00
IGL02085:Smoc2	APN	17	14,567,495 (GRCm39)	missense	possibly damaging	0.79
IGL02309:Smoc2	APN	17	14,595,789 (GRCm39)	splice site	probably benign
IGL02975:Smoc2	APN	17	14,556,872 (GRCm39)	missense	probably damaging	0.98
enamel	UTSW	17	14,545,896 (GRCm39)	missense	probably damaging	1.00
FR4976:Smoc2	UTSW	17	14,621,824 (GRCm39)	small deletion	probably benign
R2291:Smoc2	UTSW	17	14,589,233 (GRCm39)	missense	possibly damaging	0.53
R2343:Smoc2	UTSW	17	14,564,604 (GRCm39)	missense	probably benign	0.22
R2888:Smoc2	UTSW	17	14,617,887 (GRCm39)	critical splice donor site	probably null
R3878:Smoc2	UTSW	17	14,545,879 (GRCm39)	missense	probably damaging	1.00
R4872:Smoc2	UTSW	17	14,589,295 (GRCm39)	missense	probably benign	0.12
R5153:Smoc2	UTSW	17	14,556,841 (GRCm39)	missense	probably damaging	1.00
R5175:Smoc2	UTSW	17	14,595,719 (GRCm39)	missense	possibly damaging	0.89
R5292:Smoc2	UTSW	17	14,556,835 (GRCm39)	missense	probably damaging	0.98
R5794:Smoc2	UTSW	17	14,589,310 (GRCm39)	missense	possibly damaging	0.94
R7810:Smoc2	UTSW	17	14,545,884 (GRCm39)	missense	probably damaging	1.00
R7996:Smoc2	UTSW	17	14,595,730 (GRCm39)	nonsense	probably null
R8811:Smoc2	UTSW	17	14,545,896 (GRCm39)	missense	probably damaging	1.00
R9214:Smoc2	UTSW	17	14,556,839 (GRCm39)	missense	probably damaging	1.00
R9287:Smoc2	UTSW	17	14,619,686 (GRCm39)	missense	probably damaging	1.00
X0026:Smoc2	UTSW	17	14,556,895 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CTCACTGTAGTGCTAGGACAG -3'
(R):5'- AACAAGAGCTGAGCCCATAG -3'

Sequencing Primer
(F):5'- GCACACAGCATCATTTAGCTG -3'
(R):5'- GCTGAGCCCATAGAAAGAATCTTG -3'

Posted On

2016-07-06