Incidental Mutation 'R6993:Wwc2'
ID 543974
Institutional Source Beutler Lab
Gene Symbol Wwc2
Ensembl Gene ENSMUSG00000031563
Gene Name WW, C2 and coiled-coil domain containing 2
Synonyms D8Ertd594e
MMRRC Submission 045099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6993 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 48279117-48443579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48300500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 988 (F988I)
Ref Sequence ENSEMBL: ENSMUSP00000056121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057561]
AlphaFold Q6NXJ0
Predicted Effect unknown
Transcript: ENSMUST00000057561
AA Change: F988I
SMART Domains Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: F988I

DomainStartEndE-ValueType
WW 11 43 3.92e-11 SMART
WW 58 90 4.65e-4 SMART
low complexity region 143 156 N/A INTRINSIC
coiled coil region 162 194 N/A INTRINSIC
coiled coil region 223 254 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
coiled coil region 359 423 N/A INTRINSIC
low complexity region 540 567 N/A INTRINSIC
C2 713 818 5.29e0 SMART
coiled coil region 857 884 N/A INTRINSIC
coiled coil region 1067 1144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (66/67)
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 WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,975,053 (GRCm39) E10G possibly damaging Het
Akap9 A G 5: 4,115,866 (GRCm39) I3429V possibly damaging Het
Braf T A 6: 39,620,097 (GRCm39) I441F probably damaging Het
C5ar1 A T 7: 15,982,837 (GRCm39) V61E probably damaging Het
Camk2a C A 18: 61,076,247 (GRCm39) probably benign Het
Cd163 A G 6: 124,294,673 (GRCm39) Y579C probably damaging Het
Celf1 T C 2: 90,840,821 (GRCm39) Y363H probably damaging Het
Cntn3 T C 6: 102,255,365 (GRCm39) T178A probably damaging Het
Cryab C T 9: 50,664,748 (GRCm39) P58S probably benign Het
Ctsf G T 19: 4,908,511 (GRCm39) R290L probably benign Het
Ctsw T A 19: 5,515,865 (GRCm39) I258F probably damaging Het
Dnah7b T C 1: 46,234,299 (GRCm39) probably null Het
Drg1 TCATCTTCCA TCA 11: 3,200,294 (GRCm39) probably null Het
Etfb A G 7: 43,105,978 (GRCm39) T172A possibly damaging Het
Etfdh A G 3: 79,519,338 (GRCm39) Y272H probably benign Het
Ewsr1 C T 11: 5,021,573 (GRCm39) R454Q probably benign Het
F2rl2 T A 13: 95,837,642 (GRCm39) I229N probably damaging Het
Fam162a A T 16: 35,870,215 (GRCm39) I88N probably damaging Het
Fastkd5 A G 2: 130,458,459 (GRCm39) S44P probably benign Het
Fat3 T G 9: 15,830,517 (GRCm39) S4326R probably damaging Het
Fbf1 T C 11: 116,043,610 (GRCm39) K400E probably benign Het
Fndc7 A G 3: 108,783,907 (GRCm39) V234A probably benign Het
Gfi1 T A 5: 107,865,634 (GRCm39) H481L probably damaging Het
Gm5591 T A 7: 38,218,647 (GRCm39) H742L probably benign Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
H2-DMb1 A C 17: 34,376,324 (GRCm39) T148P possibly damaging Het
H2-T3 A G 17: 36,497,962 (GRCm39) L317P probably damaging Het
Hes3 T C 4: 152,371,380 (GRCm39) T190A probably benign Het
Hivep1 C T 13: 42,312,190 (GRCm39) L1477F possibly damaging Het
Insr C T 8: 3,308,752 (GRCm39) G95S probably damaging Het
Irf9 A G 14: 55,846,414 (GRCm39) I394V probably benign Het
Kat2b T C 17: 53,945,550 (GRCm39) L323P probably damaging Het
Kdr T C 5: 76,133,071 (GRCm39) D69G probably benign Het
Krt1c C T 15: 101,724,395 (GRCm39) E290K probably damaging Het
Krtap4-6 G T 11: 99,556,545 (GRCm39) R61S unknown Het
Ldc1 A G 4: 130,112,106 (GRCm39) L192P probably damaging Het
Lrrc27 A T 7: 138,822,540 (GRCm39) K477M probably damaging Het
Lvrn T C 18: 47,015,365 (GRCm39) V579A probably benign Het
Malrd1 A T 2: 16,155,602 (GRCm39) I2004L unknown Het
Mast4 A T 13: 102,872,482 (GRCm39) N2103K probably benign Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Myo18a T A 11: 77,749,900 (GRCm39) probably benign Het
Or10d5 T A 9: 39,861,933 (GRCm39) M45L probably benign Het
Or52ab2 G T 7: 102,969,998 (GRCm39) probably benign Het
Pcdhga10 A G 18: 37,882,309 (GRCm39) Y690C probably damaging Het
Pdcd2 A G 17: 15,747,343 (GRCm39) Y65H probably damaging Het
Ppp1r12a A G 10: 108,076,698 (GRCm39) E309G probably benign Het
Psmb8 A G 17: 34,418,617 (GRCm39) D123G probably damaging Het
Ptcd3 A T 6: 71,862,299 (GRCm39) W513R probably damaging Het
Ptx4 G A 17: 25,343,898 (GRCm39) V383I possibly damaging Het
Ric1 T C 19: 29,564,013 (GRCm39) L589S probably damaging Het
Rmnd5b A G 11: 51,515,427 (GRCm39) probably benign Het
Sec16a A T 2: 26,313,586 (GRCm39) S1925T probably damaging Het
Slc16a11 T A 11: 70,106,842 (GRCm39) M360K possibly damaging Het
Slc19a2 T A 1: 164,088,391 (GRCm39) F79I probably benign Het
Slc2a6 G T 2: 26,917,255 (GRCm39) S45R probably damaging Het
Slco1a7 G A 6: 141,711,468 (GRCm39) T81I possibly damaging Het
Sppl3 T A 5: 115,220,349 (GRCm39) M87K probably damaging Het
Tbcel A T 9: 42,327,413 (GRCm39) L330* probably null Het
Tbx5 A T 5: 120,009,454 (GRCm39) Y321F possibly damaging Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Unc45a A T 7: 79,975,403 (GRCm39) Y934N probably damaging Het
Unc80 A T 1: 66,588,952 (GRCm39) Q1039L possibly damaging Het
Vmn2r112 T C 17: 22,822,195 (GRCm39) L291P probably benign Het
Zfp947 G A 17: 22,364,961 (GRCm39) P238S probably benign Het
Other mutations in Wwc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Wwc2 APN 8 48,299,193 (GRCm39) missense unknown
IGL01397:Wwc2 APN 8 48,321,311 (GRCm39) missense unknown
IGL01522:Wwc2 APN 8 48,321,668 (GRCm39) missense unknown
IGL01530:Wwc2 APN 8 48,316,974 (GRCm39) missense unknown
IGL01867:Wwc2 APN 8 48,336,615 (GRCm39) missense probably benign 0.02
IGL01991:Wwc2 APN 8 48,322,901 (GRCm39) nonsense probably null
IGL02092:Wwc2 APN 8 48,317,570 (GRCm39) missense unknown
IGL02320:Wwc2 APN 8 48,316,882 (GRCm39) splice site probably null
IGL02503:Wwc2 APN 8 48,302,418 (GRCm39) missense unknown
H8562:Wwc2 UTSW 8 48,373,701 (GRCm39) missense possibly damaging 0.77
R0244:Wwc2 UTSW 8 48,353,756 (GRCm39) missense probably benign 0.16
R0331:Wwc2 UTSW 8 48,333,239 (GRCm39) missense probably benign 0.15
R0349:Wwc2 UTSW 8 48,321,701 (GRCm39) missense unknown
R0542:Wwc2 UTSW 8 48,321,414 (GRCm39) missense unknown
R0645:Wwc2 UTSW 8 48,353,674 (GRCm39) splice site probably benign
R1081:Wwc2 UTSW 8 48,281,799 (GRCm39) unclassified probably benign
R1167:Wwc2 UTSW 8 48,311,814 (GRCm39) nonsense probably null
R1646:Wwc2 UTSW 8 48,295,937 (GRCm39) missense unknown
R1860:Wwc2 UTSW 8 48,443,137 (GRCm39) missense possibly damaging 0.90
R2070:Wwc2 UTSW 8 48,321,356 (GRCm39) missense unknown
R2183:Wwc2 UTSW 8 48,295,961 (GRCm39) missense unknown
R3969:Wwc2 UTSW 8 48,309,358 (GRCm39) missense unknown
R4096:Wwc2 UTSW 8 48,295,937 (GRCm39) missense unknown
R4387:Wwc2 UTSW 8 48,284,681 (GRCm39) missense unknown
R4447:Wwc2 UTSW 8 48,321,702 (GRCm39) missense unknown
R4448:Wwc2 UTSW 8 48,321,702 (GRCm39) missense unknown
R4450:Wwc2 UTSW 8 48,321,702 (GRCm39) missense unknown
R4646:Wwc2 UTSW 8 48,373,636 (GRCm39) missense probably damaging 1.00
R4869:Wwc2 UTSW 8 48,373,713 (GRCm39) missense probably damaging 0.99
R5159:Wwc2 UTSW 8 48,353,796 (GRCm39) missense probably benign 0.03
R5317:Wwc2 UTSW 8 48,300,590 (GRCm39) missense unknown
R5391:Wwc2 UTSW 8 48,316,906 (GRCm39) missense unknown
R5728:Wwc2 UTSW 8 48,317,096 (GRCm39) missense unknown
R5871:Wwc2 UTSW 8 48,321,458 (GRCm39) missense unknown
R5943:Wwc2 UTSW 8 48,443,137 (GRCm39) missense possibly damaging 0.90
R6137:Wwc2 UTSW 8 48,309,298 (GRCm39) missense unknown
R6169:Wwc2 UTSW 8 48,311,878 (GRCm39) missense unknown
R6363:Wwc2 UTSW 8 48,340,197 (GRCm39) splice site probably null
R6421:Wwc2 UTSW 8 48,353,781 (GRCm39) missense probably damaging 1.00
R6467:Wwc2 UTSW 8 48,304,943 (GRCm39) missense unknown
R6712:Wwc2 UTSW 8 48,353,838 (GRCm39) missense probably benign 0.42
R6765:Wwc2 UTSW 8 48,353,826 (GRCm39) missense possibly damaging 0.85
R6766:Wwc2 UTSW 8 48,353,826 (GRCm39) missense possibly damaging 0.85
R6767:Wwc2 UTSW 8 48,353,826 (GRCm39) missense possibly damaging 0.85
R6768:Wwc2 UTSW 8 48,353,826 (GRCm39) missense possibly damaging 0.85
R6782:Wwc2 UTSW 8 48,353,826 (GRCm39) missense possibly damaging 0.85
R7016:Wwc2 UTSW 8 48,300,583 (GRCm39) missense unknown
R7079:Wwc2 UTSW 8 48,300,580 (GRCm39) missense unknown
R7219:Wwc2 UTSW 8 48,311,919 (GRCm39) missense unknown
R7258:Wwc2 UTSW 8 48,296,034 (GRCm39) missense unknown
R7334:Wwc2 UTSW 8 48,322,829 (GRCm39) missense unknown
R7375:Wwc2 UTSW 8 48,316,955 (GRCm39) missense unknown
R7451:Wwc2 UTSW 8 48,317,610 (GRCm39) missense not run
R7505:Wwc2 UTSW 8 48,333,185 (GRCm39) missense probably damaging 0.96
R7825:Wwc2 UTSW 8 48,443,197 (GRCm39) missense probably damaging 1.00
R7854:Wwc2 UTSW 8 48,321,512 (GRCm39) missense unknown
R7904:Wwc2 UTSW 8 48,309,270 (GRCm39) missense unknown
R8811:Wwc2 UTSW 8 48,336,579 (GRCm39) missense possibly damaging 0.48
R8985:Wwc2 UTSW 8 48,331,919 (GRCm39) missense probably benign 0.09
R9004:Wwc2 UTSW 8 48,373,732 (GRCm39) missense probably damaging 0.99
R9133:Wwc2 UTSW 8 48,305,007 (GRCm39) missense unknown
R9339:Wwc2 UTSW 8 48,353,859 (GRCm39) missense probably damaging 1.00
R9598:Wwc2 UTSW 8 48,328,360 (GRCm39) missense probably damaging 0.98
R9633:Wwc2 UTSW 8 48,304,959 (GRCm39) frame shift probably null
R9634:Wwc2 UTSW 8 48,304,959 (GRCm39) frame shift probably null
R9691:Wwc2 UTSW 8 48,281,799 (GRCm39) unclassified probably benign
R9799:Wwc2 UTSW 8 48,321,595 (GRCm39) missense unknown
Z1176:Wwc2 UTSW 8 48,321,584 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGACCCTGAGTGTTTGGGG -3'
(R):5'- ATGCTCACTCCCTAGAAGAATGG -3'

Sequencing Primer
(F):5'- GGTATGACACTCTACTCAGTGAGC -3'
(R):5'- TCCCTAGAAGAATGGCACCCATATG -3'
Posted On 2019-05-13