Incidental Mutation 'R8271:Nkd2'
ID637737
Institutional Source Beutler Lab
Gene Symbol Nkd2
Ensembl Gene ENSMUSG00000021567
Gene Namenaked cuticle 2
Synonyms2210403L10Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8271 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location73818534-73847631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 73821318 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 343 (G343V)
Ref Sequence ENSEMBL: ENSMUSP00000022051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000022051] [ENSMUST00000118096]
Predicted Effect probably benign
Transcript: ENSMUST00000017900
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 99 113 N/A INTRINSIC
Pfam:AA_permease 123 308 1e-22 PFAM
low complexity region 390 407 N/A INTRINSIC
Pfam:AA_permease 410 696 1.5e-40 PFAM
Pfam:SLC12 708 834 4.6e-18 PFAM
Pfam:SLC12 818 1083 2.3e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000022051
AA Change: G343V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: G343V

DomainStartEndE-ValueType
SCOP:d1alva_ 133 160 7e-3 SMART
low complexity region 341 358 N/A INTRINSIC
low complexity region 380 390 N/A INTRINSIC
low complexity region 441 459 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118096
AA Change: G331V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: G331V

DomainStartEndE-ValueType
SCOP:d1alva_ 121 148 7e-3 SMART
low complexity region 329 346 N/A INTRINSIC
low complexity region 368 378 N/A INTRINSIC
low complexity region 429 447 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile but show a slight and background-sensitive reduction in average litter size relative to control mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,686,212 I202L probably benign Het
Acadsb A T 7: 131,443,694 T452S unknown Het
Ago2 A T 15: 73,119,466 L541Q probably damaging Het
Ap2a2 A T 7: 141,620,899 E553V probably damaging Het
Astn2 T C 4: 65,992,426 K442E unknown Het
Bicd1 A G 6: 149,513,135 T449A probably benign Het
Btn1a1 T A 13: 23,461,749 Q150L probably benign Het
C1ra G A 6: 124,522,651 G599R probably damaging Het
Camta2 T A 11: 70,671,060 Q1076L probably benign Het
Capza2 T A 6: 17,657,215 C157S probably damaging Het
Ccnk A G 12: 108,195,855 probably benign Het
Chd3 T A 11: 69,360,657 D516V probably damaging Het
Cntnap5b A G 1: 100,072,107 T197A probably benign Het
Comp A G 8: 70,376,460 N260S probably damaging Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Ddx60 T A 8: 61,940,108 probably null Het
Defb22 C T 2: 152,485,792 V158I unknown Het
Diaph3 T C 14: 86,866,513 S812G probably damaging Het
Dohh G T 10: 81,386,010 Q79H probably benign Het
Dyrk1b T G 7: 28,182,655 V147G probably benign Het
Fastkd2 C T 1: 63,748,024 T539I probably benign Het
Gm7534 G T 4: 134,202,967 T9K unknown Het
Itpr3 G A 17: 27,087,648 D229N probably damaging Het
Kcnv1 A T 15: 45,109,358 D376E probably benign Het
Kif13a C A 13: 46,752,581 V1577F probably benign Het
L3mbtl4 G A 17: 68,486,943 R314H probably damaging Het
Mcoln2 A C 3: 146,192,424 N100T unknown Het
Mdh1b C T 1: 63,720,005 V143M possibly damaging Het
Mfsd4b4 G T 10: 39,892,105 Q377K probably benign Het
Mpv17l T C 16: 13,944,720 F122S probably damaging Het
Mylk T C 16: 34,922,579 S1154P probably damaging Het
Myo5b A G 18: 74,627,190 Y259C probably damaging Het
Nek1 G A 8: 61,105,612 V931M probably benign Het
Obox8 T A 7: 14,332,003 T197S probably benign Het
Olfr1029 T C 2: 85,975,422 Y60H probably damaging Het
Olfr1029 T G 2: 85,975,741 M166R probably benign Het
Olfr1086 T A 2: 86,676,874 H153L probably benign Het
Olfr1272 A G 2: 90,282,272 F101S possibly damaging Het
Olfr16 T A 1: 172,957,177 C127* probably null Het
Olfr309 G A 7: 86,306,754 R120C probably benign Het
Olfr480 A G 7: 108,065,773 S342P probably damaging Het
Palb2 A T 7: 122,124,874 S551T probably damaging Het
Pcdha12 T A 18: 37,021,900 D557E probably damaging Het
Pcdhb21 T A 18: 37,515,868 D683E probably benign Het
Plekhb1 A G 7: 100,656,729 probably benign Het
Plekhg5 A G 4: 152,103,007 N90D probably damaging Het
Pnpla1 A G 17: 28,881,605 D482G probably benign Het
Rc3h1 A T 1: 160,940,759 probably benign Het
Rfpl4 C T 7: 5,110,540 R214H probably benign Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Setd5 T C 6: 113,115,070 I284T possibly damaging Het
Smurf1 C T 5: 144,894,087 E293K possibly damaging Het
Tas2r106 A T 6: 131,678,060 I276N probably damaging Het
Tbc1d2 C A 4: 46,649,791 A82S possibly damaging Het
Tex19.2 A G 11: 121,117,184 I146T possibly damaging Het
Tmem107 T G 11: 69,071,455 N79K probably damaging Het
Tpsab1 A T 17: 25,345,331 S50T probably benign Het
Ttn T A 2: 76,723,250 K31008* probably null Het
Ubox5 T C 2: 130,599,709 T353A probably benign Het
Usp24 T A 4: 106,428,514 H2445Q probably damaging Het
Uvrag T C 7: 98,888,491 D499G probably benign Het
Xndc1 A T 7: 102,079,136 N247I possibly damaging Het
Yipf2 A T 9: 21,589,995 W226R probably damaging Het
Zfp335 T A 2: 164,898,053 Q793L probably damaging Het
Zfp385c A G 11: 100,657,465 S54P probably damaging Het
Other mutations in Nkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Nkd2 APN 13 73821480 missense probably benign 0.01
IGL03121:Nkd2 APN 13 73821379 missense probably benign 0.11
R0635:Nkd2 UTSW 13 73826894 missense probably benign 0.03
R4062:Nkd2 UTSW 13 73822690 missense probably null 1.00
R4546:Nkd2 UTSW 13 73823356 missense probably benign 0.02
R4724:Nkd2 UTSW 13 73847005 missense probably damaging 0.99
R4934:Nkd2 UTSW 13 73822722 missense probably damaging 1.00
R5051:Nkd2 UTSW 13 73825076 missense probably benign 0.06
R5353:Nkd2 UTSW 13 73821438 missense probably damaging 0.99
R6228:Nkd2 UTSW 13 73821460 missense probably benign 0.00
R6242:Nkd2 UTSW 13 73822786 missense probably damaging 0.98
R6530:Nkd2 UTSW 13 73822690 missense probably null 1.00
R7475:Nkd2 UTSW 13 73825742 missense probably damaging 1.00
R7486:Nkd2 UTSW 13 73847442 splice site probably benign
R7530:Nkd2 UTSW 13 73846959 missense possibly damaging 0.88
R8336:Nkd2 UTSW 13 73821073 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGCCCCTTAAGTGGTGAGTG -3'
(R):5'- CAAGAACATCATGGCAGGGC -3'

Sequencing Primer
(F):5'- CCTTAAGTGGTGAGTGGCCTTCTC -3'
(R):5'- GCAGGGCCACACACATTC -3'
Posted On2020-07-28