Mutagenetix > Incidental Mutation

Incidental Mutation 'R5714:Lypd3'

451048

Institutional Source

Beutler Lab

Gene Symbol

Lypd3

Ensembl Gene

ENSMUSG00000057454

Gene Name

Ly6/Plaur domain containing 3

Synonyms

2310061G07Rik, C4.4A

MMRRC Submission

043186-MU

Accession Numbers

Essential gene?

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

Stock #

R5714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24335995-24340543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24338494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 182 (T182A)

Ref Sequence

ENSEMBL: ENSMUSP00000079543 (fasta)

Gene Model

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

AlphaFold

Q91YK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080718
AA Change: T182A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079543
Gene: ENSMUSG00000057454
AA Change: T182A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	T	18: 65,438,532 (GRCm39)	Q1421K	possibly damaging	Het
Ankub1	G	A	3: 57,580,258 (GRCm39)	T133M	probably benign	Het
Bcar3	G	A	3: 122,248,736 (GRCm39)	V112M	possibly damaging	Het
Cacna1s	A	G	1: 136,039,804 (GRCm39)	K1476R	probably benign	Het
Cdc42ep1	C	A	15: 78,733,977 (GRCm39)	A359E	possibly damaging	Het
Cemip	T	A	7: 83,624,387 (GRCm39)	D483V	probably damaging	Het
Cyp4f39	G	A	17: 32,700,799 (GRCm39)	R156H	probably damaging	Het
Dpys	T	A	15: 39,720,553 (GRCm39)	H69L	probably damaging	Het
Fbxl21	A	G	13: 56,674,885 (GRCm39)	I79V	probably benign	Het
Fgf9	T	C	14: 58,347,022 (GRCm39)	L205P	probably damaging	Het
Fkbp14	A	G	6: 54,562,835 (GRCm39)	F144L	probably damaging	Het
Flnb	A	C	14: 7,929,073 (GRCm38)	D1934A	probably damaging	Het
Garre1	G	A	7: 33,939,941 (GRCm39)	Q717*	probably null	Het
Glul	T	C	1: 153,782,243 (GRCm39)		probably benign	Het
Helz	T	A	11: 107,517,347 (GRCm39)		probably null	Het
Kap	A	G	6: 133,828,956 (GRCm39)	Y42H	probably benign	Het
Kcnh8	T	C	17: 53,285,150 (GRCm39)	V1040A	probably benign	Het
Kptn	A	G	7: 15,854,683 (GRCm39)		probably null	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mios	T	A	6: 8,215,434 (GRCm39)	I210K	probably damaging	Het
Nat8f2	A	G	6: 85,844,891 (GRCm39)	V157A	probably benign	Het
Or1e16	T	A	11: 73,286,187 (GRCm39)		probably null	Het
Pard3b	C	A	1: 62,677,075 (GRCm39)	A1140E	probably null	Het
Pcnt	A	T	10: 76,256,325 (GRCm39)	D638E	probably damaging	Het
Pdgfra	T	C	5: 75,346,673 (GRCm39)	I834T	probably damaging	Het
Phyhd1	T	A	2: 30,169,994 (GRCm39)	L162H	probably damaging	Het
Polg	C	A	7: 79,101,739 (GRCm39)	A1026S	possibly damaging	Het
Prl7c1	A	T	13: 27,962,949 (GRCm39)	L18*	probably null	Het
Rars2	T	A	4: 34,645,779 (GRCm39)	M232K	probably benign	Het
Rtl1	A	G	12: 109,560,114 (GRCm39)	V575A	probably damaging	Het
Slc18b1	A	T	10: 23,674,664 (GRCm39)	T40S	probably benign	Het
Slc22a19	T	C	19: 7,688,387 (GRCm39)	T58A	probably damaging	Het
Slc27a6	A	T	18: 58,731,625 (GRCm39)	E325V	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Srd5a3	T	A	5: 76,301,413 (GRCm39)	F214Y	probably benign	Het
Tgfbr2	A	T	9: 116,004,092 (GRCm39)	L5Q	probably damaging	Het
Tmem94	C	A	11: 115,684,016 (GRCm39)	Q779K	probably benign	Het
Ttn	G	A	2: 76,652,837 (GRCm39)	P216S	probably benign	Het
Ush2a	A	T	1: 188,132,454 (GRCm39)	Q892L	probably benign	Het
Vgll4	A	T	6: 114,867,737 (GRCm39)	M38K	possibly damaging	Het
Vmn2r109	A	G	17: 20,773,121 (GRCm39)	I500T	probably damaging	Het
Vps33a	T	C	5: 123,707,563 (GRCm39)	I135V	probably benign	Het
Wscd1	T	C	11: 71,675,261 (GRCm39)		probably null	Het
Zfp457	C	A	13: 67,444,490 (GRCm39)	M4I	possibly damaging	Het
Zfp532	G	A	18: 65,756,606 (GRCm39)	G180R	possibly damaging	Het
Zfp97	A	G	17: 17,365,871 (GRCm39)	T457A	possibly 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
R1706:Lypd3	UTSW	7	24,339,755 (GRCm39)	missense	probably benign	0.00
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'- GAGTCACAGGTATAGCTGGC -3'
(R):5'- CATACATTTCCCGTGATGCTGTAG -3'

Sequencing Primer
(F):5'- GGTTGTCTAGATCTCTCAGCAAGAC -3'
(R):5'- TCCCGTGATGCTGTAGGACAAG -3'

Posted On

2017-01-03