Incidental Mutation 'R9382:Wnt7b'
ID 710120
Institutional Source Beutler Lab
Gene Symbol Wnt7b
Ensembl Gene ENSMUSG00000022382
Gene Name wingless-type MMTV integration site family, member 7B
Synonyms Wnt-7b
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9382 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85419638-85466022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85443175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 76 (Q76R)
Ref Sequence ENSEMBL: ENSMUSP00000105051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023015] [ENSMUST00000109424] [ENSMUST00000167968] [ENSMUST00000229191] [ENSMUST00000229495]
AlphaFold P28047
Predicted Effect silent
Transcript: ENSMUST00000023015
SMART Domains Protein: ENSMUSP00000023015
Gene: ENSMUSG00000022382

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
WNT1 40 349 1.29e-214 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109424
AA Change: Q76R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105051
Gene: ENSMUSG00000022382
AA Change: Q76R

DomainStartEndE-ValueType
low complexity region 20 38 N/A INTRINSIC
WNT1 44 353 1.29e-214 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167968
AA Change: Q9R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130627
Gene: ENSMUSG00000022382
AA Change: Q9R

DomainStartEndE-ValueType
WNT1 1 282 1.21e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229191
AA Change: Q80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000229495
AA Change: Q9R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family, which consists of structurally related genes that 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. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null embryos die at midgestational stages due to placental abnormalities involving the fusion of the chorion and allantois. Mice homozygous for a truncated allele display neonatal lethality, respiratory failure, and lung hemorrhage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,870,711 (GRCm39) S147L probably benign Het
Abraxas1 A G 5: 100,957,649 (GRCm39) V190A probably benign Het
Aoc1l2 A T 6: 48,907,298 (GRCm39) K99N probably benign Het
Aox1 T A 1: 58,104,501 (GRCm39) H559Q possibly damaging Het
Arhgap31 C T 16: 38,422,988 (GRCm39) G1026D probably benign Het
C1ra T C 6: 124,490,819 (GRCm39) F71L probably benign Het
C530025M09Rik T C 2: 149,672,640 (GRCm39) H165R unknown Het
Celf2 A T 2: 6,726,404 (GRCm39) M43K probably damaging Het
Celsr3 T C 9: 108,706,961 (GRCm39) V1148A possibly damaging Het
Cmya5 T G 13: 93,229,884 (GRCm39) K1735Q probably benign Het
Cntln A C 4: 84,968,318 (GRCm39) M846L probably benign Het
Cntn5 T C 9: 9,673,817 (GRCm39) T762A probably benign Het
Col11a1 T A 3: 113,899,046 (GRCm39) L525Q unknown Het
Col12a1 T C 9: 79,589,364 (GRCm39) T1064A probably benign Het
Cyc1 T C 15: 76,229,273 (GRCm39) V211A possibly damaging Het
Ddx56 A G 11: 6,215,516 (GRCm39) S296P probably damaging Het
Deptor A T 15: 54,975,798 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,265 (GRCm39) R409H possibly damaging Het
Fam228b T A 12: 4,798,147 (GRCm39) E190V probably damaging Het
Fkbp15 A T 4: 62,237,210 (GRCm39) L635H probably damaging Het
Frem1 G A 4: 82,901,622 (GRCm39) L969F possibly damaging Het
Gabrg2 T C 11: 41,858,433 (GRCm39) R232G probably benign Het
Gpr26 G A 7: 131,568,963 (GRCm39) D103N probably damaging Het
Grid2ip T G 5: 143,361,103 (GRCm39) probably null Het
Ints7 T C 1: 191,351,793 (GRCm39) V834A probably damaging Het
Kcnh7 T A 2: 62,667,612 (GRCm39) H309L probably benign Het
Mael T C 1: 166,053,282 (GRCm39) E241G probably damaging Het
Neb T A 2: 52,122,277 (GRCm39) E584V Het
Nexn C T 3: 151,959,401 (GRCm39) V23M probably damaging Het
Npas1 T C 7: 16,190,231 (GRCm39) probably null Het
Or51f1 T C 7: 102,506,014 (GRCm39) I158M probably benign Het
Pcdh17 T G 14: 84,685,522 (GRCm39) V663G probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Poln T A 5: 34,164,842 (GRCm39) K844N probably damaging Het
Prkar1b C T 5: 139,036,442 (GRCm39) D227N probably damaging Het
Proc T A 18: 32,256,336 (GRCm39) I444F probably damaging Het
Ptprn G T 1: 75,229,135 (GRCm39) H791N probably benign Het
Ror1 T C 4: 100,191,709 (GRCm39) S160P probably benign Het
Satb2 T A 1: 56,870,797 (GRCm39) probably null Het
Slc43a3 C T 2: 84,780,771 (GRCm39) A332V probably benign Het
Sp100 G A 1: 85,627,336 (GRCm39) V410M probably damaging Het
Srgap2 T C 1: 131,217,346 (GRCm39) T989A probably benign Het
Ssc5d T C 7: 4,930,283 (GRCm39) probably null Het
Tll2 A G 19: 41,116,997 (GRCm39) Y273H probably benign Het
Tub T C 7: 108,626,211 (GRCm39) V295A possibly damaging Het
Unc13b T A 4: 43,172,512 (GRCm39) D1113E unknown Het
Usp9y C A Y: 1,364,776 (GRCm39) M1012I probably benign Het
Vmn1r238 A G 18: 3,122,676 (GRCm39) V246A probably damaging Het
Vmn2r88 T G 14: 51,656,197 (GRCm39) V802G Het
Zan T C 5: 137,389,917 (GRCm39) R4852G unknown Het
Zfp618 A T 4: 63,051,258 (GRCm39) T680S probably damaging Het
Zfp784 T A 7: 5,041,338 (GRCm39) D25V unknown Het
Other mutations in Wnt7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02543:Wnt7b APN 15 85,443,097 (GRCm39) splice site probably benign
R0243:Wnt7b UTSW 15 85,443,103 (GRCm39) critical splice donor site probably null
R0735:Wnt7b UTSW 15 85,421,696 (GRCm39) missense probably damaging 1.00
R0835:Wnt7b UTSW 15 85,421,978 (GRCm39) missense probably damaging 1.00
R1917:Wnt7b UTSW 15 85,443,281 (GRCm39) missense probably damaging 1.00
R1919:Wnt7b UTSW 15 85,443,281 (GRCm39) missense probably damaging 1.00
R3914:Wnt7b UTSW 15 85,422,059 (GRCm39) missense possibly damaging 0.90
R5893:Wnt7b UTSW 15 85,465,575 (GRCm39) intron probably benign
R7483:Wnt7b UTSW 15 85,421,615 (GRCm39) missense possibly damaging 0.95
R7498:Wnt7b UTSW 15 85,427,880 (GRCm39) missense probably damaging 1.00
R7787:Wnt7b UTSW 15 85,428,112 (GRCm39) missense probably damaging 0.99
R8079:Wnt7b UTSW 15 85,421,646 (GRCm39) missense probably damaging 1.00
R8278:Wnt7b UTSW 15 85,427,887 (GRCm39) missense
R9506:Wnt7b UTSW 15 85,465,613 (GRCm39) missense unknown
Z1177:Wnt7b UTSW 15 85,443,270 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGGCCACTCATCCATAC -3'
(R):5'- GCGGTTCTAACACTTCCAGG -3'

Sequencing Primer
(F):5'- ACTCATCCATACACATAGGCTG -3'
(R):5'- CCGAGGGGTTCTCAACAC -3'
Posted On 2022-04-18