Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Wisp2'

699108

Institutional Source

Beutler Lab

Gene Symbol

Wisp2

Ensembl Gene

ENSMUSG00000027656

Gene Name

WNT1 inducible signaling pathway protein 2

Synonyms

rCop1, Crgr4, CCN5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163820861-163833146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163829046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 158 (C158S)

Ref Sequence

ENSEMBL: ENSMUSP00000029188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029188]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029188
AA Change: C158S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: C158S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IB	24	93	1.67e-16	SMART
VWC	100	163	5.9e-16	SMART
TSP1	195	239	9.68e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

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 WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 108,054,439	A354T	probably damaging	Het
Ano1	A	G	7: 144,595,605	S840P	probably damaging	Het
Arap1	A	G	7: 101,400,007	Q923R	probably benign	Het
Blk	T	C	14: 63,373,550	M448V	probably damaging	Het
Calhm2	C	A	19: 47,132,866	R288L	possibly damaging	Het
Card11	A	T	5: 140,880,399	M913K	possibly damaging	Het
Carf	A	C	1: 60,150,645	E676D	possibly damaging	Het
Ccr2	A	G	9: 124,105,986	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,281,906	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,435,171	T112A	possibly damaging	Het
Clint1	T	C	11: 45,883,751	V28A	probably damaging	Het
Col13a1	C	A	10: 61,850,211		probably null	Het
Cryz	G	T	3: 154,618,809	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,702,173	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,047,506	T320I	possibly damaging	Het
Dock7	G	C	4: 98,970,851	N1431K	unknown	Het
Fam110c	G	T	12: 31,073,864		probably benign	Het
Fam160a2	A	G	7: 105,385,089	L445P	possibly damaging	Het
Fbn2	A	T	18: 58,076,675	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,291,499	R655H	probably damaging	Het
Gbp2	T	C	3: 142,632,275		probably null	Het
Gm5861	A	T	5: 11,186,482	I161F	possibly damaging	Het
Hmgcll1	A	G	9: 76,074,801	D176G	probably benign	Het
Inafm1	A	T	7: 16,273,130	I54N	probably damaging	Het
Ipo9	C	G	1: 135,419,295	M152I	probably benign	Het
Khdrbs3	C	T	15: 69,092,949	T333M	probably damaging	Het
Lefty2	A	G	1: 180,897,580	T292A	probably benign	Het
Lgr5	T	C	10: 115,475,180	E237G	probably damaging	Het
Lrig2	T	A	3: 104,491,008	E268D	probably benign	Het
Mbtd1	T	A	11: 93,943,802	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,620,639	V828A	possibly damaging	Het
Ncapd3	C	A	9: 27,064,090	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,254,028	K857R	probably benign	Het
Olfr1367	C	T	13: 21,347,834	A302V	probably damaging	Het
Olfr1428	A	T	19: 12,108,652	M72K	probably damaging	Het
Olfr728	T	C	14: 50,140,372	Y89C	probably benign	Het
Olfr905	C	T	9: 38,473,398	S217F	probably damaging	Het
P4ha2	T	C	11: 54,126,400	F456L	probably benign	Het
Palm2	T	A	4: 57,709,595	V180E	probably damaging	Het
Pard3b	A	G	1: 62,164,185	D424G	probably damaging	Het
Pecam1	A	G	11: 106,688,971	S422P	probably damaging	Het
Pias2	T	A	18: 77,128,981	V296E	probably damaging	Het
Plekha5	T	A	6: 140,556,007	S640R	possibly damaging	Het
Prdx2	A	G	8: 84,971,303	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,776,221	E113K	probably benign	Het
Pxylp1	A	T	9: 96,825,058	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,762,240	V226F	possibly damaging	Het
Rel	T	C	11: 23,748,870	D139G	probably benign	Het
Rnf214	C	T	9: 45,904,831	D28N	probably benign	Het
Slc26a5	A	G	5: 21,837,287	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,599,266	A322T	probably benign	Het
Slc47a1	T	C	11: 61,371,821	I81V	probably benign	Het
Smad5	T	A	13: 56,733,002	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,092,835	D241G	probably benign	Het
Spata16	C	T	3: 26,667,845	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,728,009	Q571K	probably benign	Het
Sspo	G	A	6: 48,463,935	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,256,155	F381I	probably damaging	Het
Tjp1	T	C	7: 65,312,847	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,787,116	I762T	probably damaging	Het
Tnxb	A	G	17: 34,672,590	T636A	unknown	Het
Trat1	T	A	16: 48,754,274	R54*	probably null	Het
Tubb4a	A	T	17: 57,080,769	V419E	probably damaging	Het
Txn2	A	T	15: 77,919,765	W84R	unknown	Het
Uggt2	A	G	14: 119,041,594	Y834H	probably damaging	Het
Upp2	T	C	2: 58,780,053	L257P	probably damaging	Het
Vmn2r67	C	T	7: 85,152,800	V98I	probably benign	Het
Zfp354c	T	C	11: 50,815,839	I136M	probably benign	Het

Other mutations in Wisp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Wisp2	APN	2	163829022	missense	probably damaging	1.00
BB002:Wisp2	UTSW	2	163829041	missense	possibly damaging	0.82
BB012:Wisp2	UTSW	2	163829041	missense	possibly damaging	0.82
R0336:Wisp2	UTSW	2	163832322	missense	probably damaging	0.98
R0600:Wisp2	UTSW	2	163825313	missense	probably damaging	1.00
R1241:Wisp2	UTSW	2	163829077	missense	unknown
R1779:Wisp2	UTSW	2	163828986	missense	probably damaging	1.00
R2921:Wisp2	UTSW	2	163832346	missense	probably benign	0.11
R2923:Wisp2	UTSW	2	163832346	missense	probably benign	0.11
R4049:Wisp2	UTSW	2	163828984	missense	probably damaging	1.00
R4344:Wisp2	UTSW	2	163828986	missense	probably damaging	1.00
R5409:Wisp2	UTSW	2	163825238	missense	probably damaging	1.00
R5529:Wisp2	UTSW	2	163825359	critical splice donor site	probably null
R5663:Wisp2	UTSW	2	163825253	missense	probably damaging	1.00
R6401:Wisp2	UTSW	2	163829026	missense	probably benign	0.45
R6685:Wisp2	UTSW	2	163828948	missense	possibly damaging	0.87
R7242:Wisp2	UTSW	2	163828852	missense	probably benign	0.27
R7925:Wisp2	UTSW	2	163829041	missense	possibly damaging	0.82
R8066:Wisp2	UTSW	2	163828942	missense	probably damaging	1.00
R8701:Wisp2	UTSW	2	163828866	missense	probably damaging	1.00
R8962:Wisp2	UTSW	2	163825240	nonsense	probably null
R9656:Wisp2	UTSW	2	163829065	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTGTGCAGTCGAAGAGGATGAC -3'
(R):5'- CACCTGAACTTGAACTATGTCTTAC -3'

Sequencing Primer
(F):5'- CGGGAGCTGTGAGGTGAATG -3'
(R):5'- ATACCATGTGCATGCCTGG -3'

Posted On

2022-02-07