Incidental Mutation 'R8336:Nkd2'
ID 644635
Institutional Source Beutler Lab
Gene Symbol Nkd2
Ensembl Gene ENSMUSG00000021567
Gene Name naked cuticle 2
Synonyms 2210403L10Rik
MMRRC Submission 067729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8336 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 73966653-73995750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73969192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 425 (P425T)
Ref Sequence ENSEMBL: ENSMUSP00000022051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000022051] [ENSMUST00000118096] [ENSMUST00000222004]
AlphaFold Q8VE28
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: P425T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: P425T

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: P413T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: P413T

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 probably benign
Transcript: ENSMUST00000222004
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T C 14: 64,223,545 (GRCm39) K77R probably benign Het
Acta1 C T 8: 124,619,310 (GRCm39) E261K possibly damaging Het
Adamts19 A T 18: 59,140,444 (GRCm39) I848L possibly damaging Het
Adck1 C A 12: 88,335,249 (GRCm39) T45K probably damaging Het
Agl A G 3: 116,566,495 (GRCm39) F291S Het
BC048671 T C 6: 90,279,849 (GRCm39) V24A probably benign Het
Brsk2 C T 7: 141,538,211 (GRCm39) A119V probably damaging Het
Cacnb1 A G 11: 97,894,119 (GRCm39) Y468H probably benign Het
Cep89 A T 7: 35,127,141 (GRCm39) K501* probably null Het
Ces2a T A 8: 105,465,665 (GRCm39) F306I probably damaging Het
Col6a4 T A 9: 105,952,528 (GRCm39) I457F possibly damaging Het
Cts7 A G 13: 61,504,723 (GRCm39) probably null Het
Dnah12 C A 14: 26,432,220 (GRCm39) T444K probably benign Het
Dusp5 T C 19: 53,529,406 (GRCm39) S270P probably damaging Het
Eppk1 T TCAC 15: 75,992,152 (GRCm39) probably null Het
Esam T A 9: 37,448,362 (GRCm39) I267K probably benign Het
Fastkd1 A G 2: 69,542,489 (GRCm39) V106A probably damaging Het
Fsip2 A G 2: 82,821,099 (GRCm39) T5611A possibly damaging Het
Gcc2 A G 10: 58,108,189 (GRCm39) D933G probably damaging Het
Gm16506 T A 14: 43,964,825 (GRCm39) H39L Het
Gm5145 A T 17: 20,790,687 (GRCm39) N22Y probably damaging Het
Gm6465 A T 5: 11,896,780 (GRCm39) R50W probably damaging Het
Hivep1 C A 13: 42,309,405 (GRCm39) D548E probably benign Het
Hnrnpl C A 7: 28,513,462 (GRCm39) S178R possibly damaging Het
Hsp90b1 A G 10: 86,526,968 (GRCm39) *803Q probably null Het
Kdm5a A G 6: 120,396,407 (GRCm39) N1088S probably benign Het
Klk1b11 C T 7: 43,425,865 (GRCm39) probably benign Het
Kmt5b T C 19: 3,865,531 (GRCm39) I865T probably damaging Het
Map3k10 C A 7: 27,372,884 (GRCm39) R189L probably benign Het
Nav3 A G 10: 109,603,430 (GRCm39) S1040P probably damaging Het
Neb T C 2: 52,163,902 (GRCm39) S2019G probably damaging Het
Nfrkb T C 9: 31,314,815 (GRCm39) V545A possibly damaging Het
Or5h26 T C 16: 58,987,918 (GRCm39) Y196C possibly damaging Het
Ostm1 A G 10: 42,572,334 (GRCm39) Y239C probably damaging Het
Pabpc1l A G 2: 163,874,204 (GRCm39) D203G probably benign Het
Pcdhb21 T A 18: 37,648,942 (GRCm39) Y690* probably null Het
Pla2r1 C A 2: 60,253,027 (GRCm39) V1355F possibly damaging Het
Pms1 C T 1: 53,245,985 (GRCm39) S518N probably benign Het
Rab44 A T 17: 29,367,249 (GRCm39) *726C probably null Het
Rin1 A T 19: 5,105,013 (GRCm39) H691L possibly damaging Het
Slc30a9 T A 5: 67,473,058 (GRCm39) Y47* probably null Het
Sp9 T A 2: 73,104,796 (GRCm39) V450D possibly damaging Het
Sstr3 T C 15: 78,424,693 (GRCm39) N18S probably damaging Het
Sugct T A 13: 17,032,504 (GRCm39) Y416F probably benign Het
Tcf3 T C 10: 80,257,000 (GRCm39) T75A probably benign Het
Tenm3 A G 8: 48,746,808 (GRCm39) V999A probably damaging Het
Tfap2c T A 2: 172,399,112 (GRCm39) L453* probably null Het
Trip12 A T 1: 84,743,762 (GRCm39) M515K probably benign Het
Vstm2a G A 11: 16,207,801 (GRCm39) probably benign 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
R0635:Nkd2 UTSW 13 73,975,013 (GRCm39) missense probably benign 0.03
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
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'- CCAGGGGATGCTGTATTCTCTAC -3'
(R):5'- AAGCCAGGGAAAGCTCTCAG -3'

Sequencing Primer
(F):5'- GATGCTGTATTCTCTACTGGGCAC -3'
(R):5'- TCAGCTATTGCCTGCAGG -3'
Posted On 2020-09-02