Mutagenetix > Incidental Mutation

Incidental Mutation 'R3033:Lypd8'

263350

Institutional Source

Beutler Lab

Gene Symbol

Lypd8

Ensembl Gene

ENSMUSG00000013643

Gene Name

LY6/PLAUR domain containing 8

Synonyms

2210415F13Rik

MMRRC Submission

040549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58269869-58281365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58275453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 63 (Y63H)

Ref Sequence

ENSEMBL: ENSMUSP00000104454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013787] [ENSMUST00000108826]

AlphaFold

Q9D7S0

Predicted Effect

probably damaging
Transcript: ENSMUST00000013787
AA Change: Y63H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643
AA Change: Y63H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPAR_LY6	23	105	3.4e-5	PFAM
Pfam:UPAR_LY6	121	197	2.3e-5	PFAM
low complexity region	199	212	N/A	INTRINSIC
low complexity region	248	254	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108826
AA Change: Y63H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643
AA Change: Y63H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPAR_LY6	23	105	1.9e-4	PFAM
Pfam:UPAR_LY6	121	197	4.9e-5	PFAM
low complexity region	199	212	N/A	INTRINSIC
low complexity region	248	254	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Ly6/PLAUR family of cysteine-rich proteins that plays an important role in the protection of colonic epithelium from flagellated microbiota. The encoded protein undergoes proteolytic processing to generate a mature, glycosylphosphatidylinositol-anchored protein that is localized to the apical surface of the colonic epithelial cells. Mice lacking the encoded protein are sensitive to chemically induced intestinal inflammation. [provided by RefSeq, Aug 2016]
PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,184,227 (GRCm39)	D591G	probably benign	Het
Aqp4	T	A	18: 15,526,617 (GRCm39)	E288V	possibly damaging	Het
Astn2	T	C	4: 65,562,943 (GRCm39)	Y894C	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Dennd4c	AGGAGCTCCTGGAGC	AGGAGC	4: 86,743,557 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,150,333 (GRCm39)	D810G	probably benign	Het
Dst	T	C	1: 34,191,366 (GRCm39)	I222T	probably damaging	Het
Eif4g3	A	T	4: 137,830,721 (GRCm39)	T159S	probably damaging	Het
Ercc5	A	G	1: 44,219,734 (GRCm39)	E1002G	possibly damaging	Het
Gm5414	T	C	15: 101,533,044 (GRCm39)	E461G	probably damaging	Het
Heatr5a	A	T	12: 51,997,821 (GRCm39)	C359*	probably null	Het
Ift88	G	A	14: 57,715,501 (GRCm39)	D515N	probably damaging	Het
Kmt2a	A	G	9: 44,733,160 (GRCm39)		probably benign	Het
Mcm3	A	T	1: 20,878,992 (GRCm39)	Y594N	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Naip1	T	C	13: 100,568,966 (GRCm39)	M322V	probably benign	Het
Neurl2	T	C	2: 164,674,975 (GRCm39)	E129G	probably benign	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rapgef2	A	G	3: 78,981,613 (GRCm39)		probably null	Het
Selenbp1	T	C	3: 94,845,351 (GRCm39)	V149A	probably benign	Het
Smg9	A	G	7: 24,115,949 (GRCm39)	D280G	probably damaging	Het
Tlr1	T	C	5: 65,082,912 (GRCm39)	D555G	probably damaging	Het
Tomm70a	G	A	16: 56,942,388 (GRCm39)	G55D	probably damaging	Het
Tpte	T	A	8: 22,810,888 (GRCm39)	S182T	possibly damaging	Het
Zfp58	T	C	13: 67,639,741 (GRCm39)	E250G	probably damaging	Het

Other mutations in Lypd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Lypd8	APN	11	58,281,046 (GRCm39)	missense	possibly damaging	0.53
confusion	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
quandary	UTSW	11	58,275,439 (GRCm39)	missense	probably damaging	1.00
R0096:Lypd8	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
R0628:Lypd8	UTSW	11	58,275,499 (GRCm39)	missense	probably damaging	1.00
R0711:Lypd8	UTSW	11	58,277,583 (GRCm39)	missense	probably benign	0.00
R2294:Lypd8	UTSW	11	58,277,680 (GRCm39)	missense	probably damaging	0.99
R4562:Lypd8	UTSW	11	58,273,215 (GRCm39)	critical splice donor site	probably null
R4610:Lypd8	UTSW	11	58,277,675 (GRCm39)	missense	probably benign	0.00
R5224:Lypd8	UTSW	11	58,277,634 (GRCm39)	missense	possibly damaging	0.93
R5468:Lypd8	UTSW	11	58,277,586 (GRCm39)	missense	probably damaging	0.96
R6213:Lypd8	UTSW	11	58,281,160 (GRCm39)	missense	probably benign
R6228:Lypd8	UTSW	11	58,277,629 (GRCm39)	missense	possibly damaging	0.60
R6528:Lypd8	UTSW	11	58,275,439 (GRCm39)	missense	probably damaging	1.00
R6947:Lypd8	UTSW	11	58,273,592 (GRCm39)	missense	probably benign	0.00
R7811:Lypd8	UTSW	11	58,281,064 (GRCm39)	missense	possibly damaging	0.53
R9006:Lypd8	UTSW	11	58,277,586 (GRCm39)	missense	possibly damaging	0.77
R9209:Lypd8	UTSW	11	58,273,640 (GRCm39)	missense	possibly damaging	0.93
RF018:Lypd8	UTSW	11	58,281,058 (GRCm39)	small insertion	probably benign
RF028:Lypd8	UTSW	11	58,281,065 (GRCm39)	small insertion	probably benign
RF039:Lypd8	UTSW	11	58,281,057 (GRCm39)	small insertion	probably benign
RF042:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
RF043:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
RF054:Lypd8	UTSW	11	58,281,077 (GRCm39)	small insertion	probably benign
RF057:Lypd8	UTSW	11	58,281,065 (GRCm39)	small insertion	probably benign
Z1088:Lypd8	UTSW	11	58,277,556 (GRCm39)	missense	possibly damaging	0.92
Z1186:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1186:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,281,064 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,281,070 (GRCm39)	small insertion	probably benign
Z1186:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1186:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1187:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1187:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1187:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1187:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1188:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1188:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1188:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1188:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1189:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1189:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1189:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1189:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1190:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1190:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1190:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1190:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1191:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1191:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63
Z1191:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1191:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,273,601 (GRCm39)	missense	probably benign
Z1192:Lypd8	UTSW	11	58,281,069 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,068 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,061 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,281,059 (GRCm39)	small insertion	probably benign
Z1192:Lypd8	UTSW	11	58,275,489 (GRCm39)	missense	probably benign	0.02
Z1192:Lypd8	UTSW	11	58,275,475 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGAGTGCTCTGATGGGGAAC -3'
(R):5'- ACTGGAGACATCTACCCCTAGC -3'

Sequencing Primer
(F):5'- GTTAAAGACGTGCCATTGCC -3'
(R):5'- GAGACATCTACCCCTAGCCAAGC -3'

Posted On

2015-02-05