Incidental Mutation 'R8750:Wfdc2'
ID 663749
Institutional Source Beutler Lab
Gene Symbol Wfdc2
Ensembl Gene ENSMUSG00000017723
Gene Name WAP four-disulfide core domain 2
Synonyms HE4, WAP5, 1600023A02Rik
MMRRC Submission 068593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164404635-164410430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164407818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 162 (N162K)
Ref Sequence ENSEMBL: ENSMUSP00000017867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017867] [ENSMUST00000099097] [ENSMUST00000109344] [ENSMUST00000109345] [ENSMUST00000125051]
AlphaFold Q9DAU7
Predicted Effect probably damaging
Transcript: ENSMUST00000017867
AA Change: N162K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: N162K

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: ENSMUST00000099097
SMART Domains Protein: ENSMUSP00000096695
Gene: ENSMUSG00000074596

DomainStartEndE-ValueType
KU 33 86 1.11e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109344
AA Change: N62K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104968
Gene: ENSMUSG00000017723
AA Change: N62K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 28 73 1.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109345
AA Change: N110K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: N110K

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 benign
Transcript: ENSMUST00000125051
SMART Domains Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723

DomainStartEndE-ValueType
WAP 48 90 8.42e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,247 (GRCm39) Q172* probably null Het
Ankib1 A G 5: 3,752,890 (GRCm39) probably null Het
Avpr1b C T 1: 131,527,674 (GRCm39) R66C probably damaging Het
Bbs7 A T 3: 36,661,744 (GRCm39) C152S possibly damaging Het
Cacna1a C A 8: 85,285,784 (GRCm39) R810S probably damaging Het
Ccdc17 G A 4: 116,457,129 (GRCm39) A538T possibly damaging Het
Cd93 T C 2: 148,285,080 (GRCm39) M89V probably benign Het
Clec11a G T 7: 43,955,323 (GRCm39) D157E probably benign Het
Crtam A C 9: 40,895,641 (GRCm39) D228E probably benign Het
Cyp2a4 A G 7: 26,012,209 (GRCm39) I331V probably benign Het
Cysltr2 T C 14: 73,267,078 (GRCm39) I211V probably benign Het
Dcaf13 T C 15: 38,982,836 (GRCm39) S123P probably damaging Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dnah1 A T 14: 31,026,924 (GRCm39) L700Q probably benign Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dpyd C T 3: 118,935,585 (GRCm39) S670L probably damaging Het
Dsg2 A T 18: 20,708,069 (GRCm39) I57F possibly damaging Het
Dzip3 A C 16: 48,801,338 (GRCm39) I62S probably damaging Het
Ern1 A T 11: 106,312,776 (GRCm39) S202T probably damaging Het
Foxm1 T A 6: 128,350,206 (GRCm39) C517* probably null Het
Galnt16 G A 12: 80,644,879 (GRCm39) V501I probably benign Het
Gmip A T 8: 70,273,134 (GRCm39) R840S probably benign Het
Gna14 A C 19: 16,585,458 (GRCm39) I279L Het
Irak2 T C 6: 113,663,783 (GRCm39) M444T probably benign Het
Itfg2 T C 6: 128,389,755 (GRCm39) probably null Het
Kif5a T A 10: 127,083,909 (GRCm39) H94L probably damaging Het
Kmt2e A G 5: 23,698,215 (GRCm39) T636A probably benign Het
Krba1 T C 6: 48,382,212 (GRCm39) S152P probably damaging Het
Mad1l1 T A 5: 140,300,822 (GRCm39) M25L probably benign Het
Map7d1 T C 4: 126,132,315 (GRCm39) N286D probably benign Het
Mfrp A G 9: 44,014,802 (GRCm39) K280E probably benign Het
Mlh3 G T 12: 85,308,488 (GRCm39) L1100I probably damaging Het
Mrgprx2 T C 7: 48,131,778 (GRCm39) I347V probably benign Het
Mtnr1b A T 9: 15,785,724 (GRCm39) C11* probably null Het
Mx1 T C 16: 97,252,917 (GRCm39) E401G probably damaging Het
Mypn T C 10: 63,003,036 (GRCm39) D367G probably benign Het
Nherf2 T C 17: 24,861,233 (GRCm39) I176V probably damaging Het
Or52a33 T A 7: 103,289,059 (GRCm39) D96V probably damaging Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8s8 T G 15: 98,354,929 (GRCm39) I246R probably damaging Het
Or9g19 T A 2: 85,600,307 (GRCm39) L54H probably damaging Het
Plcb1 T G 2: 135,177,369 (GRCm39) M567R probably damaging Het
Plekhd1 A T 12: 80,752,861 (GRCm39) D109V probably damaging Het
Polr2e A G 10: 79,875,424 (GRCm39) I17T probably benign Het
Pot1b T C 17: 55,973,537 (GRCm39) D421G probably benign Het
Prkar1b A T 5: 139,036,451 (GRCm39) W224R probably damaging Het
Psmd1 C A 1: 86,016,585 (GRCm39) R490S probably damaging Het
Pwp2 A G 10: 78,013,659 (GRCm39) W521R probably damaging Het
Rhpn2 C A 7: 35,075,680 (GRCm39) Q286K probably benign Het
Rnf103 T A 6: 71,486,602 (GRCm39) M411K probably benign Het
Scpep1 A C 11: 88,835,298 (GRCm39) V125G probably damaging Het
Serpinb9c C T 13: 33,335,793 (GRCm39) V248M probably null Het
Snx15 T A 19: 6,170,593 (GRCm39) N282I probably benign Het
Spaca3 A T 11: 80,758,514 (GRCm39) D159V probably benign Het
Srrm4 A G 5: 116,605,567 (GRCm39) V230A unknown Het
Ssu2 T A 6: 112,359,312 (GRCm39) I103F possibly damaging Het
Strip2 T A 6: 29,931,815 (GRCm39) F453I probably damaging Het
Tac2 C T 10: 127,564,319 (GRCm39) P72L possibly damaging Het
Tiparp T G 3: 65,460,125 (GRCm39) S473R probably damaging Het
Tmem135 C T 7: 88,956,456 (GRCm39) R53Q probably damaging Het
Tmem200b T A 4: 131,649,406 (GRCm39) F109I probably damaging Het
Tmem245 A T 4: 56,886,141 (GRCm39) I825N probably damaging Het
Tmem63c G T 12: 87,103,306 (GRCm39) V27F probably damaging Het
Tshz1 T C 18: 84,033,162 (GRCm39) I415M probably damaging Het
Tut4 C G 4: 108,407,940 (GRCm39) A1403G probably damaging Het
Zeb2 T A 2: 44,887,939 (GRCm39) I373F probably damaging Het
Zfp27 T C 7: 29,594,804 (GRCm39) N387S possibly damaging Het
Zfp760 A T 17: 21,941,356 (GRCm39) H177L possibly damaging Het
Zg16 A G 7: 126,649,518 (GRCm39) S148P possibly damaging Het
Zic2 A G 14: 122,714,129 (GRCm39) N348D probably benign Het
Zswim4 A T 8: 84,939,313 (GRCm39) D856E possibly 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
R8501:Wfdc2 UTSW 2 164,405,279 (GRCm39) missense probably damaging 0.97
X0065:Wfdc2 UTSW 2 164,406,019 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAACTCAGATAGGCAGCTCTG -3'
(R):5'- GCTTGCACATTATCCGCATAGTG -3'

Sequencing Primer
(F):5'- AGCTCTGCTGTTGGTGAACC -3'
(R):5'- CCATACCTAGGCGTTTCT -3'
Posted On 2021-03-08