Incidental Mutation 'R9411:Nkd2'
ID 711821
Institutional Source Beutler Lab
Gene Symbol Nkd2
Ensembl Gene ENSMUSG00000021567
Gene Name naked cuticle 2
Synonyms 2210403L10Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9411 (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 A at 73969330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 379 (L379F)
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 benign
Transcript: ENSMUST00000022051
AA Change: L379F

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: L379F

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: L367F

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: L367F

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,919,919 (GRCm39) A285T probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg7 T A 6: 114,690,289 (GRCm39) M650K probably benign Het
B020011L13Rik G A 1: 117,729,246 (GRCm39) G251E probably benign Het
Bhlha9 T C 11: 76,564,018 (GRCm39) V215A probably benign Het
Bmal1 C A 7: 112,907,837 (GRCm39) S513* probably null Het
C2cd3 T C 7: 100,065,704 (GRCm39) V452A Het
Cd55 G A 1: 130,368,114 (GRCm39) H370Y probably benign Het
Col6a1 A G 10: 76,547,487 (GRCm39) V662A unknown Het
Crocc A G 4: 140,749,577 (GRCm39) probably null Het
Cspg4b T A 13: 113,504,767 (GRCm39) N1965K Het
Dnah1 C T 14: 31,018,256 (GRCm39) V1421M probably damaging Het
Eid3 T G 10: 82,703,652 (GRCm39) I371S probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Garem1 C T 18: 21,369,057 (GRCm39) probably null Het
Gcn1 C T 5: 115,733,098 (GRCm39) T1045M possibly damaging Het
Ggt6 T A 11: 72,326,560 (GRCm39) L39H probably damaging Het
Glrb T C 3: 80,767,610 (GRCm39) probably null Het
Gpr171 T A 3: 59,005,311 (GRCm39) K155* probably null Het
Has2 T A 15: 56,531,306 (GRCm39) T470S possibly damaging Het
Ighv1-34 C T 12: 114,815,070 (GRCm39) V31M probably damaging Het
Kdm2a A T 19: 4,412,835 (GRCm39) N50K probably damaging Het
Mfsd9 C T 1: 40,829,692 (GRCm39) V30M probably damaging Het
Msra A G 14: 64,471,331 (GRCm39) I126T probably benign Het
Nr2f2 A C 7: 70,007,525 (GRCm39) V319G Het
Ntng2 A T 2: 29,138,048 (GRCm39) L2Q probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcnt T C 10: 76,258,896 (GRCm39) E523G probably damaging Het
Pllp C T 8: 95,402,868 (GRCm39) A158T probably benign Het
Plxna4 A G 6: 32,159,682 (GRCm39) S1431P probably damaging Het
Pramel16 A T 4: 143,676,215 (GRCm39) F296L probably damaging Het
Pramel31 A G 4: 144,089,997 (GRCm39) I346V probably benign Het
Prpf40a T C 2: 53,029,200 (GRCm39) D951G unknown Het
Retn G A 8: 3,707,378 (GRCm39) A113T probably benign Het
Rexo1 G T 10: 80,397,248 (GRCm39) R3S Het
Rras T A 7: 44,669,979 (GRCm39) I137N possibly damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sntb2 A G 8: 107,737,931 (GRCm39) D493G probably damaging Het
Socs5 T C 17: 87,442,521 (GRCm39) I487T possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Suco T A 1: 161,666,356 (GRCm39) I515F probably damaging Het
Syn2 T C 6: 115,231,152 (GRCm39) V269A possibly damaging Het
Tmbim6 T C 15: 99,304,501 (GRCm39) L186P probably damaging Het
Tmem234 T C 4: 129,495,988 (GRCm39) Y57H probably damaging Het
Tnik C A 3: 28,684,754 (GRCm39) P861T probably damaging Het
Tns1 A G 1: 73,992,662 (GRCm39) L45P probably damaging Het
Veph1 T A 3: 65,995,238 (GRCm39) D671V possibly damaging Het
Vwc2l A T 1: 70,767,980 (GRCm39) I15F probably benign Het
Zdbf2 A T 1: 63,343,288 (GRCm39) N556Y probably damaging Het
Zfp202 T A 9: 40,118,878 (GRCm39) V97D probably damaging Het
Zfp800 T C 6: 28,243,430 (GRCm39) I512V possibly damaging Het
Zkscan2 T C 7: 123,084,405 (GRCm39) D573G 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
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
R8336:Nkd2 UTSW 13 73,969,192 (GRCm39) missense probably damaging 1.00
R9288:Nkd2 UTSW 13 73,995,177 (GRCm39) intron probably benign
R9766:Nkd2 UTSW 13 73,995,131 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGGCATCACATAGCCCTCAG -3'
(R):5'- ATCACAAGAGTCGGATGCC -3'

Sequencing Primer
(F):5'- TTCATGCTCCACCATGGT -3'
(R):5'- AAGTCCTGGCTGAGCATGTCATAC -3'
Posted On 2022-05-16