Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Wisp2'

563264

Institutional Source

Beutler Lab

Gene Symbol

Wisp2

Ensembl Gene

ENSMUSG00000027656

Gene Name

WNT1 inducible signaling pathway protein 2

Synonyms

rCop1, Crgr4, CCN5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7242 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

163820861-163833146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163828852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 93 (F93S)

Ref Sequence

ENSEMBL: ENSMUSP00000029188 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029188
AA Change: F93S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: F93S

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,128	Y354F	probably damaging	Het
1700001J03Rik	A	T	5: 146,184,867	I74N	probably damaging	Het
4921501E09Rik	A	G	17: 33,067,127	Y234H	probably damaging	Het
Abca6	A	T	11: 110,241,653	V272D	possibly damaging	Het
Acot11	A	T	4: 106,762,493	S163R	probably benign	Het
Adcy5	T	C	16: 35,156,835	L246P	probably damaging	Het
Adgra1	A	T	7: 139,847,657		probably null	Het
Adgra2	A	G	8: 27,122,027	T1335A	probably damaging	Het
Armt1	T	C	10: 4,453,475	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,505	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,363,835	C163Y	unknown	Het
Cables1	T	C	18: 11,840,007	S68P	possibly damaging	Het
Cacna1d	A	G	14: 30,178,706	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Celf1	T	A	2: 91,003,257	C119*	probably null	Het
Cfap57	C	T	4: 118,593,096	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,927,250	M1K	probably null	Het
Chrnd	C	T	1: 87,197,479	T418I	probably damaging	Het
Coch	G	T	12: 51,593,561		probably benign	Het
Cop1	A	G	1: 159,284,548	T345A	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Corin	T	C	5: 72,305,055	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,617,339	T371N	probably benign	Het
Dap	T	A	15: 31,273,308	*103R	probably null	Het
Defb35	T	A	8: 21,940,757	V49E	unknown	Het
Dmtf1	T	A	5: 9,149,016	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,618,020	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,293,972	E264K	probably benign	Het
Dtx3l	A	T	16: 35,933,401	N278K	possibly damaging	Het
Fam161a	T	A	11: 23,020,037	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,745,796	S114T	unknown	Het
Focad	T	G	4: 88,309,906	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171	T418S	probably damaging	Het
Gclc	A	G	9: 77,785,371	Y264C	probably benign	Het
Ggn	G	A	7: 29,173,034	C649Y	possibly damaging	Het
Gm10184	G	A	17: 89,910,135	T61I	probably benign	Het
Gys1	A	G	7: 45,439,668		probably null	Het
Hsd3b1	T	C	3: 98,853,210	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,772,606	K191E	probably benign	Het
Ik	A	T	18: 36,748,222	S79C	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Mast4	A	G	13: 102,738,478	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885	V555E	probably damaging	Het
Met	G	A	6: 17,491,317	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,709,474	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011	D86E	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1120	G	A	2: 87,358,082	V213I	probably benign	Het
Olfr1352	A	T	10: 78,984,497	K236*	probably null	Het
Olfr504	T	G	7: 108,565,712	S28R	probably benign	Het
Olfr935	A	G	9: 38,995,141	I98T	probably benign	Het
Patj	A	T	4: 98,591,933	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,203,217	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,144,893	I309F	possibly damaging	Het
Phtf1	A	G	3: 103,998,696	S565G	probably damaging	Het
Plekha2	A	C	8: 25,088,395	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,856,388	M20V	unknown	Het
Pth2r	A	G	1: 65,388,620	D484G	probably benign	Het
Rapgef2	G	A	3: 79,087,903	Q665*	probably null	Het
Scamp1	G	A	13: 94,233,140	T59I	probably benign	Het
Sema4a	T	A	3: 88,450,109	D230V	probably damaging	Het
Snw1	C	T	12: 87,468,645	G45R	possibly damaging	Het
Sox30	T	A	11: 45,984,520		probably null	Het
Sspo	T	A	6: 48,473,952	I2665K	probably benign	Het
Stx5a	T	A	19: 8,755,277	W437R	unknown	Het
Tln1	A	G	4: 43,542,602	V1402A	probably benign	Het
Tpm1	A	G	9: 67,028,101	L244P	probably benign	Het
Try5	T	A	6: 41,313,454	E32V	probably benign	Het
Ttn	T	C	2: 76,721,729	N31188S	probably benign	Het
Tulp1	T	C	17: 28,363,405		probably null	Het
Usp13	T	G	3: 32,865,743		probably null	Het
Vax2	A	G	6: 83,711,316	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,485,613	Y139*	probably null	Het
Zfp423	T	C	8: 87,904,527	D21G	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
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
R9215:Wisp2	UTSW	2	163829046	missense	probably damaging	1.00
R9656:Wisp2	UTSW	2	163829065	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCCAAGGCTTCATTTTGTCAGATTC -3'
(R):5'- ATCACTGCCTGGTCACACAC -3'

Sequencing Primer
(F):5'- GTGAAATTACTTGGCCCATAGCTG -3'
(R):5'- GGCACCTGTATTCTCCTGGG -3'

Posted On

2019-06-26