Incidental Mutation 'R8501:Wfdc2'
ID 655312
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 067838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8501 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164405279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 44 (D44G)
Ref Sequence ENSEMBL: ENSMUSP00000017867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
AlphaFold Q9DAU7
Predicted Effect probably damaging
Transcript: ENSMUST00000017867
AA Change: D44G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: D44G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 74 8.42e-4 SMART
WAP 128 173 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109344
SMART Domains Protein: ENSMUSP00000104968
Gene: ENSMUSG00000017723

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 28 73 1.12e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109345
AA Change: D44G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: D44G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 74 8.42e-4 SMART
WAP 76 121 1.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125051
AA Change: D60G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723
AA Change: D60G

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,844,724 (GRCm39) V98M probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Atg2a T C 19: 6,304,420 (GRCm39) S1146P probably damaging Het
Atg3 C A 16: 45,003,294 (GRCm39) D207E probably damaging Het
Atp8b3 A G 10: 80,355,980 (GRCm39) V1244A probably benign Het
Cacna1i T C 15: 80,266,247 (GRCm39) probably null Het
Ccdc171 G T 4: 83,581,895 (GRCm39) E675* probably null Het
Cep68 A T 11: 20,189,132 (GRCm39) S627T unknown Het
Chrnd T C 1: 87,120,338 (GRCm39) W165R probably damaging Het
Col6a2 G T 10: 76,439,391 (GRCm39) A791D probably damaging Het
Dlg2 C A 7: 92,024,930 (GRCm39) S598R probably damaging Het
Elfn2 G T 15: 78,558,500 (GRCm39) Q16K probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Grm8 A T 6: 27,618,540 (GRCm39) M434K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf2 G C 7: 142,207,779 (GRCm39) P106R probably damaging Het
Klf7 T C 1: 64,118,322 (GRCm39) S92G probably benign Het
Mme T A 3: 63,234,156 (GRCm39) M73K probably damaging Het
Musk G C 4: 58,367,502 (GRCm39) K588N probably damaging Het
Naa30 C A 14: 49,410,353 (GRCm39) H94N possibly damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nfya A G 17: 48,706,017 (GRCm39) L52P unknown Het
Or14j5 A G 17: 38,161,756 (GRCm39) Y91C probably damaging Het
Or1j17 A G 2: 36,578,809 (GRCm39) N265S probably benign Het
Or51b6 T A 7: 103,555,818 (GRCm39) H54Q Het
Otogl A T 10: 107,626,421 (GRCm39) M1481K probably benign Het
P4ha3 A G 7: 99,962,562 (GRCm39) D440G probably damaging Het
Pcdhb13 A T 18: 37,577,493 (GRCm39) T624S probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Piezo2 A G 18: 63,178,611 (GRCm39) Y1769H probably damaging Het
Plekha6 T A 1: 133,215,575 (GRCm39) V913E probably benign Het
Rapgefl1 A G 11: 98,733,053 (GRCm39) E211G possibly damaging Het
Rcc2 T C 4: 140,443,237 (GRCm39) L305P probably damaging Het
Rgs3 G T 4: 62,521,193 (GRCm39) V47F possibly damaging Het
Scly A G 1: 91,246,798 (GRCm39) S370G probably damaging Het
Setmar T A 6: 108,052,822 (GRCm39) D105E probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Sp140 A T 1: 85,569,461 (GRCm39) N357I probably damaging Het
Trim30c G C 7: 104,036,677 (GRCm39) T227R probably benign Het
Unc79 G A 12: 103,058,897 (GRCm39) V1014I probably damaging Het
Vmn1r151 A T 7: 22,199,034 (GRCm39) F24I probably damaging Het
Vmn2r78 T C 7: 86,570,094 (GRCm39) V204A probably damaging Het
Vps13a T C 19: 16,659,484 (GRCm39) D1681G probably benign Het
Vwa2 T C 19: 56,897,414 (GRCm39) V573A probably benign Het
Zfp40 T A 17: 23,397,272 (GRCm39) N75I probably damaging Het
Other mutations in Wfdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Wfdc2 APN 2 164,405,979 (GRCm39) missense probably benign 0.01
IGL02946:Wfdc2 APN 2 164,406,009 (GRCm39) missense probably benign 0.00
IGL03408:Wfdc2 APN 2 164,405,283 (GRCm39) nonsense probably null
R1528:Wfdc2 UTSW 2 164,407,828 (GRCm39) missense probably damaging 1.00
R5368:Wfdc2 UTSW 2 164,405,354 (GRCm39) missense possibly damaging 0.92
R6532:Wfdc2 UTSW 2 164,405,296 (GRCm39) missense probably benign 0.13
R6737:Wfdc2 UTSW 2 164,405,362 (GRCm39) nonsense probably null
R6742:Wfdc2 UTSW 2 164,404,706 (GRCm39) missense probably benign 0.18
R6818:Wfdc2 UTSW 2 164,405,070 (GRCm39) critical splice donor site probably null
R7573:Wfdc2 UTSW 2 164,407,741 (GRCm39) missense probably benign 0.04
R8750:Wfdc2 UTSW 2 164,407,818 (GRCm39) missense probably damaging 1.00
X0065:Wfdc2 UTSW 2 164,406,019 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGAATCCGAAATCCTTGGGG -3'
(R):5'- TTTACCCCAGGCCAGACAAG -3'

Sequencing Primer
(F):5'- CCGAAATCCTTGGGGTTGAAATTTG -3'
(R):5'- CTGGATCTGGGATGCCCTTC -3'
Posted On 2020-10-20