Mutagenetix > Incidental Mutation

Incidental Mutation 'R5051:Nkd2'

394666

Institutional Source

Beutler Lab

Gene Symbol

Nkd2

Ensembl Gene

ENSMUSG00000021567

Gene Name

naked cuticle 2

Synonyms

2210403L10Rik

MMRRC Submission

042641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5051 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73966653-73995750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73973195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 147 (V147A)

Ref Sequence

ENSEMBL: ENSMUSP00000022051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022051] [ENSMUST00000118096] [ENSMUST00000222004]

AlphaFold

Q8VE28

Predicted Effect

probably benign
Transcript: ENSMUST00000022051
AA Change: V147A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: V147A

Domain	Start	End	E-Value	Type
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: V135A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: V135A

Domain	Start	End	E-Value	Type
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

0.0860

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

98% (62/63)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	G	A	11: 25,718,990 (GRCm39)	T51I	unknown	Het
Alms1	C	T	6: 85,604,916 (GRCm39)	Q2189*	probably null	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Ap3d1	T	G	10: 80,555,033 (GRCm39)	T431P	probably damaging	Het
Arnt	A	G	3: 95,377,648 (GRCm39)	T125A	probably benign	Het
Atp10a	TGTCCGTC	TGTC	7: 58,389,994 (GRCm39)		probably null	Het
Bscl2	A	T	19: 8,822,643 (GRCm39)	R195*	probably null	Het
Ccdc146	C	T	5: 21,508,081 (GRCm39)	V656I	possibly damaging	Het
Ccn6	A	G	10: 39,031,152 (GRCm39)	F124L	probably benign	Het
Ccr4	T	C	9: 114,321,714 (GRCm39)	Y117C	probably damaging	Het
Cd55	T	A	1: 130,376,085 (GRCm39)	D355V	probably damaging	Het
Cntn6	T	A	6: 104,749,558 (GRCm39)	I259N	probably damaging	Het
Cspg4	A	G	9: 56,793,020 (GRCm39)	I252V	possibly damaging	Het
Dmbt1	T	C	7: 130,696,472 (GRCm39)	V895A	probably benign	Het
Ect2	A	G	3: 27,156,635 (GRCm39)	V775A	probably benign	Het
Gm14486	T	C	2: 30,548,889 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,756,393 (GRCm39)	N444S	possibly damaging	Het
Heatr5b	T	C	17: 79,102,703 (GRCm39)	D1225G	probably damaging	Het
Il1rl2	G	A	1: 40,382,254 (GRCm39)	V189I	probably benign	Het
Kif1a	G	A	1: 93,003,876 (GRCm39)		probably null	Het
Ltbr	T	A	6: 125,289,733 (GRCm39)	T154S	probably damaging	Het
Mrgpra6	C	T	7: 46,835,690 (GRCm39)	V244I	probably benign	Het
Myo15a	G	A	11: 60,378,251 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,204,106 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,268,913 (GRCm39)	N496K	possibly damaging	Het
Nlrp3	G	C	11: 59,457,025 (GRCm39)	R1013P	probably benign	Het
Or4d11	C	A	19: 12,013,288 (GRCm39)	V273F	possibly damaging	Het
Or4k36	T	A	2: 111,146,599 (GRCm39)	Y258*	probably null	Het
Pdk2	T	C	11: 94,919,598 (GRCm39)	S263G	probably benign	Het
Pla2g4e	T	A	2: 120,004,785 (GRCm39)	I520F	probably damaging	Het
Plat	A	G	8: 23,263,688 (GRCm39)	T196A	probably benign	Het
Podn	T	A	4: 107,872,043 (GRCm39)	D400V	probably benign	Het
Poteg	T	C	8: 27,943,357 (GRCm39)	V147A	possibly damaging	Het
Prkar2a	A	G	9: 108,622,690 (GRCm39)	N315D	probably benign	Het
Rac2	A	G	15: 78,449,134 (GRCm39)	I13T	possibly damaging	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Relch	T	A	1: 105,619,711 (GRCm39)	N313K	possibly damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Supv3l1	A	C	10: 62,279,196 (GRCm39)	I240S	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tead4	A	C	6: 128,271,262 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,460,019 (GRCm39)	A444V	possibly damaging	Het
Tgds	A	T	14: 118,365,639 (GRCm39)	I73K	probably damaging	Het
Tmem117	C	A	15: 94,612,794 (GRCm39)	T110K	probably damaging	Het
Trim30a	T	A	7: 104,060,913 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,548,636 (GRCm39)	T636I	probably damaging	Het
Ybey	G	A	10: 76,304,173 (GRCm39)	R10W	probably damaging	Het
Zap70	A	G	1: 36,820,532 (GRCm39)	I576V	probably benign	Het
Zfp64	T	C	2: 168,768,304 (GRCm39)	D436G	probably damaging	Het

Other mutations in Nkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGGATGTTAAAATGGGCTCTGC -3'
(R):5'- ACCTCTTCCTGGCTGACAAC -3'

Sequencing Primer
(F):5'- CCCTTCTGTCTTAGGAAAGTTCTAG -3'
(R):5'- TCCTGGCTGACAACCAGGAAG -3'

Posted On

2016-06-15