Incidental Mutation 'R4448:Wwc2'
ID 328838
Institutional Source Beutler Lab
Gene Symbol Wwc2
Ensembl Gene ENSMUSG00000031563
Gene Name WW, C2 and coiled-coil domain containing 2
Synonyms D8Ertd594e
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 48279117-48443579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48321702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 471 (Y471H)
Ref Sequence ENSEMBL: ENSMUSP00000056121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057561]
AlphaFold Q6NXJ0
Predicted Effect unknown
Transcript: ENSMUST00000057561
AA Change: Y471H
SMART Domains Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: Y471H

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
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gpr4 G A 7: 18,956,926 (GRCm39) A283T probably damaging Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging 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
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
R6993:Wwc2 UTSW 8 48,300,500 (GRCm39) missense unknown
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'- ACAGGGATGCCACTGACTTG -3'
(R):5'- GTGTTCCAGTAGAGACGTCC -3'

Sequencing Primer
(F):5'- ATGCCACTGACTTGGAGGC -3'
(R):5'- AGACGTCCTCTGCCTGG -3'
Posted On 2015-07-21