Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Lypd3'

190071

Institutional Source

Beutler Lab

Gene Symbol

Lypd3

Ensembl Gene

ENSMUSG00000057454

Gene Name

Ly6/Plaur domain containing 3

Synonyms

2310061G07Rik, C4.4A

MMRRC Submission

039739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24335995-24340543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24339755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 274 (I274T)

Ref Sequence

ENSEMBL: ENSMUSP00000079543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080718]

AlphaFold

Q91YK8

Predicted Effect

probably benign
Transcript: ENSMUST00000080718
AA Change: I274T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079543
Gene: ENSMUSG00000057454
AA Change: I274T

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LU	33	128	7.26e-26	SMART
Pfam:UPAR_LY6	142	224	1.3e-16	PFAM
low complexity region	234	255	N/A	INTRINSIC
low complexity region	258	278	N/A	INTRINSIC
low complexity region	303	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180699

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Homozygous null mice show no overt epidermal phenotype and have normal squamous epithelia morphology but are lighter and leaner than controls. Males display delayed wound healing whereas females show reduced food intake and a lower incidence of invasive lesions in a BBN-induced bladder cancer model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059 (GRCm39)		probably benign	Het
4931406C07Rik	G	A	9: 15,209,153 (GRCm39)	T47I	probably damaging	Het
Adcy2	T	A	13: 68,868,865 (GRCm39)	N558I	probably damaging	Het
Ago3	G	A	4: 126,264,085 (GRCm39)	P374S	probably damaging	Het
Ak8	T	C	2: 28,650,007 (GRCm39)	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
BC005624	T	C	2: 30,868,922 (GRCm39)	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,181 (GRCm39)	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875 (GRCm39)	P593L	probably damaging	Het
Clcn6	G	A	4: 148,102,025 (GRCm39)	T353I	probably benign	Het
Cstl1	G	A	2: 148,593,079 (GRCm39)		probably null	Het
Cyp2d10	A	C	15: 82,289,783 (GRCm39)	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,566,230 (GRCm39)	R18H	unknown	Het
Ddi2	A	G	4: 141,411,308 (GRCm39)	F535L	probably benign	Het
Dop1a	C	T	9: 86,436,133 (GRCm39)	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,149,953 (GRCm39)	T115A	probably benign	Het
Ercc6l2	T	A	13: 64,020,272 (GRCm39)		probably benign	Het
Gm7052	A	G	17: 22,258,823 (GRCm39)		probably benign	Het
Gm9925	G	A	18: 74,198,573 (GRCm39)		probably benign	Het
Gnas	T	A	2: 174,141,768 (GRCm39)	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,302,484 (GRCm39)	C138*	probably null	Het
Igsf8	C	T	1: 172,144,972 (GRCm39)	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,135,959 (GRCm39)	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,074,167 (GRCm39)	V77E	probably damaging	Het
Kif13b	T	A	14: 64,998,115 (GRCm39)		probably benign	Het
Lca5l	T	C	16: 95,977,164 (GRCm39)	N214S	probably benign	Het
Luc7l3	T	C	11: 94,188,582 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,264,377 (GRCm39)		probably null	Het
Mchr1	A	G	15: 81,121,364 (GRCm39)	Y38C	probably damaging	Het
Mia2	T	A	12: 59,191,552 (GRCm39)	L716*	probably null	Het
Mki67	A	G	7: 135,302,295 (GRCm39)	L913P	probably benign	Het
Mug2	T	A	6: 122,013,191 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,472,563 (GRCm39)	L58P	probably damaging	Het
Or4p23	G	A	2: 88,576,482 (GRCm39)	P250L	probably damaging	Het
Or8h9	A	T	2: 86,789,424 (GRCm39)	I126N	probably damaging	Het
Pak1ip1	T	C	13: 41,166,164 (GRCm39)	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,612,705 (GRCm39)	D555G	probably benign	Het
Pygb	G	A	2: 150,669,067 (GRCm39)	G671D	probably damaging	Het
Rab30	A	T	7: 92,478,875 (GRCm39)	I79L	possibly damaging	Het
Rab44	C	A	17: 29,357,080 (GRCm39)	T70K	probably damaging	Het
Rccd1	C	G	7: 79,970,411 (GRCm39)	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,470,125 (GRCm39)	V329A	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc22a14	T	C	9: 119,010,050 (GRCm39)	N15S	probably benign	Het
Smurf2	G	A	11: 106,715,573 (GRCm39)	H632Y	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgm6	T	C	2: 129,987,079 (GRCm39)	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,734,021 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,521,160 (GRCm39)	N174S	probably damaging	Het
Ttc8	C	A	12: 98,910,142 (GRCm39)	T123K	probably benign	Het
Ugt1a7c	T	A	1: 88,023,447 (GRCm39)	M202K	probably damaging	Het
Vmn2r7	T	A	3: 64,598,880 (GRCm39)	H559L	possibly damaging	Het
Zfp511	A	G	7: 139,617,192 (GRCm39)	D96G	probably benign	Het
Zfp868	A	G	8: 70,065,060 (GRCm39)	Y92H	probably benign	Het
Zzz3	T	A	3: 152,154,735 (GRCm39)	D633E	probably damaging	Het

Other mutations in Lypd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Lypd3	APN	7	24,340,018 (GRCm39)	missense	probably benign	0.00
IGL01443:Lypd3	APN	7	24,336,063 (GRCm39)	missense	probably benign	0.03
R0200:Lypd3	UTSW	7	24,339,656 (GRCm39)	missense	probably damaging	1.00
R0726:Lypd3	UTSW	7	24,337,969 (GRCm39)	nonsense	probably null
R5714:Lypd3	UTSW	7	24,338,494 (GRCm39)	missense	possibly damaging	0.86
R5771:Lypd3	UTSW	7	24,339,787 (GRCm39)	missense	probably benign
R6137:Lypd3	UTSW	7	24,339,919 (GRCm39)	missense	probably benign	0.00
R6908:Lypd3	UTSW	7	24,337,858 (GRCm39)	missense	probably damaging	1.00
R6932:Lypd3	UTSW	7	24,337,858 (GRCm39)	missense	probably damaging	1.00
R6935:Lypd3	UTSW	7	24,337,858 (GRCm39)	missense	probably damaging	1.00
R7632:Lypd3	UTSW	7	24,337,865 (GRCm39)	missense	possibly damaging	0.60
R8769:Lypd3	UTSW	7	24,337,932 (GRCm39)	missense	probably damaging	0.99
R9663:Lypd3	UTSW	7	24,338,349 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAACGCCGACCTTCGCAACAAG -3'
(R):5'- ATGAGACATTCACAGCATCGCGCC -3'

Sequencing Primer
(F):5'- GACCTTCGCAACAAGACCTATTTC -3'
(R):5'- AGTGCCAGAGCCTCCTTTAG -3'

Posted On

2014-05-14