Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Lypd3'

538861

Institutional Source

Beutler Lab

Gene Symbol

Lypd3

Ensembl Gene

ENSMUSG00000057454

Gene Name

Ly6/Plaur domain containing 3

Synonyms

2310061G07Rik, C4.4A

MMRRC Submission

045000-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24335995-24340543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 24337858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 75 (G75R)

Ref Sequence

ENSEMBL: ENSMUSP00000079543 (fasta)

Gene Model

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

AlphaFold

Q91YK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080718
AA Change: G75R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079543
Gene: ENSMUSG00000057454
AA Change: G75R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,477,668 (GRCm39)	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,047,707 (GRCm39)		probably null	Het
B3glct	T	C	5: 149,619,941 (GRCm39)		probably null	Het
Bbs9	T	G	9: 22,479,019 (GRCm39)	I154S	probably damaging	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,780,371 (GRCm39)		probably null	Het
Celf6	T	C	9: 59,511,106 (GRCm39)	V349A	probably benign	Het
Chd9	A	G	8: 91,683,044 (GRCm39)	T495A	probably benign	Het
Cxxc1	G	A	18: 74,353,630 (GRCm39)	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,992,268 (GRCm39)	V223A	probably damaging	Het
Dlc1	A	G	8: 37,404,841 (GRCm39)	F316S	probably benign	Het
Dnajc12	C	A	10: 63,233,104 (GRCm39)	Q82K	probably benign	Het
Dock8	G	A	19: 25,165,746 (GRCm39)	E1877K	probably damaging	Het
Epha3	T	G	16: 63,418,612 (GRCm39)	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,402,701 (GRCm39)	C220F	probably damaging	Het
Fryl	A	G	5: 73,179,554 (GRCm39)	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,368,898 (GRCm39)	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,476,741 (GRCm39)	N77D	probably benign	Het
Ints13	A	T	6: 146,456,531 (GRCm39)	D438E	probably damaging	Het
Itgb6	C	T	2: 60,480,365 (GRCm39)	V324M	probably benign	Het
Kdm7a	G	T	6: 39,121,373 (GRCm39)	L861M	possibly damaging	Het
Kirrel3	A	G	9: 34,924,697 (GRCm39)	T302A	possibly damaging	Het
Lama2	A	T	10: 26,907,192 (GRCm39)		probably null	Het
Lrp2	A	T	2: 69,302,709 (GRCm39)	C3007S	probably damaging	Het
Mastl	T	C	2: 23,045,988 (GRCm39)		probably benign	Het
Mcf2l	T	C	8: 13,068,919 (GRCm39)	V1087A	probably benign	Het
Mcmdc2	C	A	1: 10,001,003 (GRCm39)		probably null	Het
Ms4a3	A	G	19: 11,615,659 (GRCm39)	I39T	probably damaging	Het
Mylk	T	G	16: 34,700,643 (GRCm39)	C495G	probably benign	Het
Myo10	A	G	15: 25,804,469 (GRCm39)	D1588G	probably damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,108,122 (GRCm39)	I460V	probably benign	Het
Nmt1	T	G	11: 102,949,080 (GRCm39)	S312A	possibly damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2d4	T	C	7: 106,543,839 (GRCm39)	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,996,222 (GRCm39)	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,429,577 (GRCm39)	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,140,885 (GRCm39)	I559T	probably damaging	Het
Plec	G	A	15: 76,070,081 (GRCm39)	Q806*	probably null	Het
Prss51	C	T	14: 64,333,601 (GRCm39)	A70V	probably benign	Het
Psd3	A	T	8: 68,416,829 (GRCm39)	I356K	probably benign	Het
Ptprn2	A	T	12: 116,852,508 (GRCm39)	I522F	probably benign	Het
Rab39	T	C	9: 53,617,369 (GRCm39)	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,033,112 (GRCm39)	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,011,370 (GRCm39)	D238E	probably benign	Het
Ripor2	G	A	13: 24,890,215 (GRCm39)	G697S	probably damaging	Het
Scn11a	A	T	9: 119,621,492 (GRCm39)	F642I	probably damaging	Het
Serinc4	G	A	2: 121,284,086 (GRCm39)	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,040,712 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,991,211 (GRCm39)	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,340,776 (GRCm39)	S455P	probably damaging	Het
Ttn	C	A	2: 76,720,202 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,440,682 (GRCm39)	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,990,400 (GRCm39)	T97A	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
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
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'- AGCCTGTTCTCGTTGGACTG -3'
(R):5'- GATGTCTGCAGTCTTCAACCC -3'

Sequencing Primer
(F):5'- GGACTGTATTCTTTGAAGCTCTTC -3'
(R):5'- TAGCTCCCAGCCCTAGTGTG -3'

Posted On

2018-11-06