Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Wnt5b'

425957

Institutional Source

Beutler Lab

Gene Symbol

Wnt5b

Ensembl Gene

ENSMUSG00000030170

Gene Name

wingless-type MMTV integration site family, member 5B

Synonyms

Wnt-5b

MMRRC Submission

042965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119409492-119521308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119417394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 157 (L157R)

Ref Sequence

ENSEMBL: ENSMUSP00000137065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117171] [ENSMUST00000118120] [ENSMUST00000119369] [ENSMUST00000178696]

AlphaFold

P22726

Predicted Effect

probably damaging
Transcript: ENSMUST00000117171
AA Change: L157R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: L157R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
WNT1	50	359	3.47e-215	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118120
AA Change: L119R

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: L119R

Domain	Start	End	E-Value	Type
WNT1	12	321	3.47e-215	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119369
AA Change: L170R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: L170R

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
WNT1	63	372	3.47e-215	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178696
AA Change: L157R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: L157R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
WNT1	50	359	3.47e-215	SMART

Meta Mutation Damage Score

0.3782

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes. [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
1110025L11Rik	A	T	16: 88,860,653 (GRCm39)	Y60*	probably null	Het
Abca6	T	A	11: 110,135,121 (GRCm39)	E221D	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adi1	A	G	12: 28,725,274 (GRCm39)	D8G	probably benign	Het
Adnp	T	C	2: 168,024,869 (GRCm39)	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,574,011 (GRCm39)	H4R	probably benign	Het
Atp6v0a1	T	C	11: 100,929,633 (GRCm39)	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,216,015 (GRCm39)	N94I	probably benign	Het
Catsperg1	T	C	7: 28,884,924 (GRCm39)	N899S	probably damaging	Het
Cilk1	A	G	9: 78,067,997 (GRCm39)	T463A	probably benign	Het
Coro2a	A	G	4: 46,542,255 (GRCm39)	S373P	probably damaging	Het
Cpsf6	G	C	10: 117,197,921 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,497,099 (GRCm39)	N3099K	probably damaging	Het
Ctla2b	T	A	13: 61,043,946 (GRCm39)	E74D	probably damaging	Het
Dnah2	T	A	11: 69,391,683 (GRCm39)	T671S	probably benign	Het
Drd5	T	A	5: 38,478,248 (GRCm39)	S414T	probably benign	Het
Dyrk2	C	T	10: 118,695,753 (GRCm39)	D502N	probably damaging	Het
Ecel1	A	T	1: 87,080,598 (GRCm39)	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,622,903 (GRCm39)	R24Q	unknown	Het
Eloc	A	C	1: 16,718,192 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,515,819 (GRCm39)		probably benign	Het
Fam89b	T	C	19: 5,778,733 (GRCm39)	D152G	probably damaging	Het
Gm15455	G	A	1: 33,875,927 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Hdac10	T	C	15: 89,010,887 (GRCm39)	Y238C	probably damaging	Het
Ighv2-5	T	C	12: 113,649,502 (GRCm39)	T12A	possibly damaging	Het
Insrr	T	C	3: 87,718,007 (GRCm39)		probably null	Het
Irf9	T	C	14: 55,843,914 (GRCm39)		probably benign	Het
Itpr2	A	T	6: 146,277,653 (GRCm39)	C280*	probably null	Het
Kcnk18	T	C	19: 59,208,271 (GRCm39)	C36R	probably damaging	Het
Khdc4	T	A	3: 88,603,913 (GRCm39)	H243Q	probably benign	Het
Klhl14	G	T	18: 21,785,051 (GRCm39)	N125K	probably benign	Het
Lce1i	T	C	3: 92,685,042 (GRCm39)	S45G	unknown	Het
Lrmda	A	C	14: 22,077,374 (GRCm39)	D37A	probably damaging	Het
Marco	A	C	1: 120,413,583 (GRCm39)	D280E	probably damaging	Het
Meak7	T	C	8: 120,499,157 (GRCm39)	I112V	probably benign	Het
Miox	C	T	15: 89,220,450 (GRCm39)	Q180*	probably null	Het
Npdc1	A	T	2: 25,298,682 (GRCm39)	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,063,274 (GRCm39)	K205R	probably damaging	Het
Or2ak6	T	A	11: 58,593,326 (GRCm39)	H266Q	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,829,720 (GRCm39)	R723C	probably benign	Het
Pdlim5	T	A	3: 141,964,947 (GRCm39)	E295D	probably damaging	Het
Poli	C	A	18: 70,650,499 (GRCm39)	E314*	probably null	Het
Ptpro	A	G	6: 137,357,222 (GRCm39)	N238D	probably benign	Het
R3hdm1	A	G	1: 128,159,084 (GRCm39)	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,187,375 (GRCm39)	V1338M	probably damaging	Het
Saa3	T	C	7: 46,362,085 (GRCm39)	Y53C	probably damaging	Het
Septin14	T	A	5: 129,760,650 (GRCm39)	E398D	probably benign	Het
Six3	T	C	17: 85,931,270 (GRCm39)	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,311,919 (GRCm39)	S34P	probably damaging	Het
Smarca2	C	A	19: 26,617,829 (GRCm39)	Q287K	probably benign	Het
Stard9	C	T	2: 120,533,387 (GRCm39)	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,748,363 (GRCm39)		probably null	Het
Tbc1d8	A	T	1: 39,465,169 (GRCm39)	V73E	probably damaging	Het
Tmem120a	T	C	5: 135,765,104 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,819,370 (GRCm39)	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb24	T	A	10: 41,340,578 (GRCm39)	V536E	probably damaging	Het
Zfp593	G	A	4: 133,972,615 (GRCm39)	A67V	probably benign	Het
Zfp995	A	T	17: 22,099,473 (GRCm39)	F254I	probably benign	Het

Other mutations in Wnt5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Wnt5b	APN	6	119,417,515 (GRCm39)	missense	possibly damaging	0.70
IGL01822:Wnt5b	APN	6	119,410,433 (GRCm39)	missense	probably damaging	1.00
Blizzard	UTSW	6	119,423,319 (GRCm39)	missense	probably damaging	1.00
Invierno	UTSW	6	119,417,272 (GRCm39)	missense	probably damaging	1.00
luftmensch	UTSW	6	119,410,813 (GRCm39)	missense	probably damaging	0.97
R0557:Wnt5b	UTSW	6	119,410,779 (GRCm39)	missense	probably damaging	1.00
R0732:Wnt5b	UTSW	6	119,423,543 (GRCm39)	nonsense	probably null
R1472:Wnt5b	UTSW	6	119,410,442 (GRCm39)	missense	probably damaging	1.00
R1673:Wnt5b	UTSW	6	119,423,315 (GRCm39)	missense	probably benign	0.19
R4202:Wnt5b	UTSW	6	119,417,272 (GRCm39)	missense	probably damaging	1.00
R5100:Wnt5b	UTSW	6	119,417,449 (GRCm39)	missense	probably benign	0.20
R5264:Wnt5b	UTSW	6	119,410,813 (GRCm39)	missense	probably damaging	0.97
R5394:Wnt5b	UTSW	6	119,417,283 (GRCm39)	missense	probably damaging	0.98
R5482:Wnt5b	UTSW	6	119,423,392 (GRCm39)	missense	probably benign	0.19
R5741:Wnt5b	UTSW	6	119,410,690 (GRCm39)	missense	probably damaging	1.00
R5902:Wnt5b	UTSW	6	119,425,199 (GRCm39)	missense	probably benign	0.00
R6005:Wnt5b	UTSW	6	119,410,615 (GRCm39)	missense	probably benign	0.04
R6061:Wnt5b	UTSW	6	119,410,603 (GRCm39)	missense	probably damaging	0.98
R6208:Wnt5b	UTSW	6	119,423,473 (GRCm39)	missense	probably damaging	1.00
R6405:Wnt5b	UTSW	6	119,410,457 (GRCm39)	missense	probably benign	0.06
R6478:Wnt5b	UTSW	6	119,410,751 (GRCm39)	missense	probably damaging	1.00
R6482:Wnt5b	UTSW	6	119,410,573 (GRCm39)	missense	possibly damaging	0.88
R7047:Wnt5b	UTSW	6	119,425,217 (GRCm39)	start gained	probably benign
R7338:Wnt5b	UTSW	6	119,425,092 (GRCm39)	splice site	probably null
R8044:Wnt5b	UTSW	6	119,423,319 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGAGTGAAGGCTTGCAG -3'
(R):5'- CAGTGACGGGCTTACCATCTATTG -3'

Sequencing Primer
(F):5'- GCTTGCAGGCCAACACC -3'
(R):5'- TATTGTCCCCGCTGCAGGTAG -3'

Posted On

2016-08-04