Incidental Mutation 'R0635:Nkd2'
ID 56629
Institutional Source Beutler Lab
Gene Symbol Nkd2
Ensembl Gene ENSMUSG00000021567
Gene Name naked cuticle 2
Synonyms 2210403L10Rik
MMRRC Submission 038824-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0635 (G1)
Quality Score 163
Status Validated
Chromosome 13
Chromosomal Location 73966653-73995750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73975013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000113794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022051] [ENSMUST00000118096] [ENSMUST00000222004]
AlphaFold Q8VE28
Predicted Effect probably benign
Transcript: ENSMUST00000022051
AA Change: D70G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: D70G

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 benign
Transcript: ENSMUST00000118096
AA Change: D58G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: D58G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139696
Predicted Effect probably benign
Transcript: ENSMUST00000222004
Meta Mutation Damage Score 0.1153 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 99% (68/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,264,891 (GRCm39) probably benign Het
Adamts15 A G 9: 30,816,066 (GRCm39) L631P probably damaging Het
Adamts17 T C 7: 66,558,353 (GRCm39) F266L probably damaging Het
Adgrb1 C A 15: 74,412,741 (GRCm39) Q488K possibly damaging Het
Armh4 A G 14: 50,010,600 (GRCm39) L369S probably benign Het
Cep290 A G 10: 100,328,538 (GRCm39) D109G probably damaging Het
Chil5 A T 3: 105,924,519 (GRCm39) Y229N possibly damaging Het
Cntnap1 A G 11: 101,074,285 (GRCm39) T742A probably benign Het
Col6a3 A T 1: 90,735,808 (GRCm39) probably null Het
Col6a5 G A 9: 105,805,805 (GRCm39) P1034S unknown Het
Daxx T A 17: 34,131,618 (GRCm39) D442E probably benign Het
Dmxl1 T C 18: 49,984,490 (GRCm39) probably benign Het
Dnah11 A G 12: 117,971,731 (GRCm39) F2942S probably damaging Het
Garin4 T C 1: 190,895,924 (GRCm39) T240A probably benign Het
Glg1 A G 8: 111,890,396 (GRCm39) probably benign Het
Gm10272 G A 10: 77,542,535 (GRCm39) probably benign Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Haao A G 17: 84,146,003 (GRCm39) F83S probably damaging Het
Hdgfl2 T A 17: 56,403,057 (GRCm39) L177Q probably damaging Het
Hrh1 T C 6: 114,457,106 (GRCm39) V129A probably damaging Het
Ift43 T A 12: 86,131,855 (GRCm39) probably benign Het
Il21r T C 7: 125,231,678 (GRCm39) Y369H probably damaging Het
Il2ra C T 2: 11,685,177 (GRCm39) T171M probably benign Het
Lao1 C T 4: 118,825,493 (GRCm39) R438C probably benign Het
Lrrcc1 G A 3: 14,624,288 (GRCm39) S350N probably benign Het
Mageb5 T A X: 90,823,599 (GRCm39) Y260F probably benign Het
Marchf5 A T 19: 37,197,807 (GRCm39) I159F possibly damaging Het
Mgat4a G A 1: 37,491,375 (GRCm39) A282V probably benign Het
Mipep G A 14: 61,066,839 (GRCm39) V420I probably damaging Het
Morc2b A T 17: 33,356,661 (GRCm39) F370L possibly damaging Het
Mt1 A T 8: 94,906,449 (GRCm39) probably null Het
Ncapd2 A G 6: 125,149,999 (GRCm39) V943A probably benign Het
Nol8 C G 13: 49,830,234 (GRCm39) S1106C probably benign Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Nusap1 A G 2: 119,458,148 (GRCm39) T95A probably damaging Het
Ocln T A 13: 100,642,744 (GRCm39) Q197L probably damaging Het
Or5p70 T A 7: 107,994,971 (GRCm39) F215I probably benign Het
Oxtr A G 6: 112,466,161 (GRCm39) Y200H probably damaging Het
Paip2b T C 6: 83,786,891 (GRCm39) E115G possibly damaging Het
Pcm1 T A 8: 41,720,216 (GRCm39) probably benign Het
Pcnt T C 10: 76,240,419 (GRCm39) D1205G probably damaging Het
Phka1 G A X: 101,665,006 (GRCm39) R186C probably damaging Het
Pik3cb A G 9: 98,946,271 (GRCm39) probably benign Het
Pik3r1 C T 13: 101,893,926 (GRCm39) R81K probably benign Het
Ppa1 A G 10: 61,501,219 (GRCm39) D162G probably benign Het
Ppa1 A G 10: 61,502,749 (GRCm39) R191G probably damaging Het
Ppp4r3c2 T C X: 88,796,128 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Rgr T A 14: 36,760,904 (GRCm39) R218* probably null Het
Rreb1 A T 13: 38,125,540 (GRCm39) Q1282L possibly damaging Het
Scel T A 14: 103,820,575 (GRCm39) probably null Het
Sema6b A G 17: 56,436,971 (GRCm39) probably null Het
Slc4a1 T C 11: 102,243,498 (GRCm39) E711G possibly damaging Het
Snx19 C A 9: 30,340,106 (GRCm39) L415M probably damaging Het
Snx19 T G 9: 30,340,107 (GRCm39) L415R probably damaging Het
Specc1 G A 11: 62,009,729 (GRCm39) R495Q probably damaging Het
Tead1 T C 7: 112,490,913 (GRCm39) probably benign Het
Timm10b A C 7: 105,289,895 (GRCm39) probably benign Het
Ubxn7 T A 16: 32,186,235 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,605,861 (GRCm39) Y258N possibly damaging Het
Vmn2r77 T A 7: 86,460,383 (GRCm39) F570I probably benign Het
Vmn2r98 T C 17: 19,300,759 (GRCm39) V587A probably benign Het
Zfp398 T C 6: 47,840,074 (GRCm39) I101T probably damaging Het
Zfp808 T A 13: 62,320,233 (GRCm39) H487Q probably damaging Het
Other mutations in Nkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Nkd2 APN 13 73,969,599 (GRCm39) missense probably benign 0.01
IGL03121:Nkd2 APN 13 73,969,498 (GRCm39) missense probably benign 0.11
R4062:Nkd2 UTSW 13 73,970,809 (GRCm39) missense probably null 1.00
R4546:Nkd2 UTSW 13 73,971,475 (GRCm39) missense probably benign 0.02
R4724:Nkd2 UTSW 13 73,995,124 (GRCm39) missense probably damaging 0.99
R4934:Nkd2 UTSW 13 73,970,841 (GRCm39) missense probably damaging 1.00
R5051:Nkd2 UTSW 13 73,973,195 (GRCm39) missense probably benign 0.06
R5353:Nkd2 UTSW 13 73,969,557 (GRCm39) missense probably damaging 0.99
R6228:Nkd2 UTSW 13 73,969,579 (GRCm39) missense probably benign 0.00
R6242:Nkd2 UTSW 13 73,970,905 (GRCm39) missense probably damaging 0.98
R6530:Nkd2 UTSW 13 73,970,809 (GRCm39) missense probably null 1.00
R7475:Nkd2 UTSW 13 73,973,861 (GRCm39) missense probably damaging 1.00
R7486:Nkd2 UTSW 13 73,995,561 (GRCm39) splice site probably benign
R7530:Nkd2 UTSW 13 73,995,078 (GRCm39) missense possibly damaging 0.88
R8271:Nkd2 UTSW 13 73,969,437 (GRCm39) missense probably damaging 1.00
R8336:Nkd2 UTSW 13 73,969,192 (GRCm39) missense probably damaging 1.00
R9288:Nkd2 UTSW 13 73,995,177 (GRCm39) intron probably benign
R9411:Nkd2 UTSW 13 73,969,330 (GRCm39) missense probably benign 0.10
R9766:Nkd2 UTSW 13 73,995,131 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCTGCCTGCTTGGTAAGGAATCTC -3'
(R):5'- ACATTCTGCTGTGTGAAGCTGGAAG -3'

Sequencing Primer
(F):5'- GAATCTCAGGTAACAGGTCTCTGC -3'
(R):5'- CACAGATCACGCCGAGAAG -3'
Posted On 2013-07-11