Incidental Mutation 'IGL03121:Nkd2'
ID 409967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkd2
Ensembl Gene ENSMUSG00000021567
Gene Name naked cuticle 2
Synonyms 2210403L10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03121
Quality Score
Chromosome 13
Chromosomal Location 73818534-73847631 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73821379 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 311 (A311S)
Ref Sequence ENSEMBL: ENSMUSP00000113794 (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

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 benign
Transcript: ENSMUST00000022051
AA Change: A323S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: A323S

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: A311S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: A311S

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: ENSMUST00000220522
Predicted Effect probably benign
Transcript: ENSMUST00000222004
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,761,650 S4P possibly damaging Het
A2m A G 6: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Brd8 A T 18: 34,606,687 F678I probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Olfr780 A G 10: 129,322,168 I182V probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Ube2q2 A T 9: 55,195,039 probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Wipi2 G A 5: 142,663,102 E252K probably benign Het
Other mutations in Nkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Nkd2 APN 13 73821480 missense probably benign 0.01
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
R8271:Nkd2 UTSW 13 73821318 missense probably damaging 1.00
R8336:Nkd2 UTSW 13 73821073 missense probably damaging 1.00
R9411:Nkd2 UTSW 13 73821211 missense probably benign 0.10
Posted On 2016-08-02