Mutagenetix > Incidental Mutation

Incidental Mutation 'R2294:Lypd8'

245108

Institutional Source

Beutler Lab

Gene Symbol

Lypd8

Ensembl Gene

ENSMUSG00000013643

Gene Name

LY6/PLAUR domain containing 8

Synonyms

2210415F13Rik

MMRRC Submission

040293-MU

Accession Numbers

Essential gene?

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

Stock #

R2294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58269869-58281365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58277680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 154 (N154I)

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: N154I

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

SMART Domains

Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643
AA Change: N154I

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: N154I

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

SMART Domains

Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643
AA Change: N154I

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

Meta Mutation Damage Score

0.3409

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (30/30)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,495,322 (GRCm39)	V673I	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Chchd3	T	C	6: 32,829,122 (GRCm39)	E166G	probably damaging	Het
Chrna7	A	T	7: 62,760,172 (GRCm39)	S135T	probably benign	Het
Dxo	G	A	17: 35,057,962 (GRCm39)		probably null	Het
Fbxw18	A	G	9: 109,505,865 (GRCm39)	S469P	probably damaging	Het
G3bp2	G	A	5: 92,205,887 (GRCm39)	R290C	probably damaging	Het
Hydin	T	C	8: 111,026,591 (GRCm39)	L103P	probably damaging	Het
Lrig3	C	T	10: 125,802,363 (GRCm39)	R7*	probably null	Het
Lrp6	A	G	6: 134,434,705 (GRCm39)	C1333R	probably damaging	Het
Luzp2	T	C	7: 54,821,938 (GRCm39)		probably benign	Het
Ndufs1	A	T	1: 63,200,155 (GRCm39)	D252E	probably damaging	Het
Nos3	T	A	5: 24,569,855 (GRCm39)	V7E	probably damaging	Het
Or1e33	A	G	11: 73,738,312 (GRCm39)	L213P	probably damaging	Het
Osbpl6	A	T	2: 76,407,423 (GRCm39)	D446V	possibly damaging	Het
Pik3c2b	C	A	1: 132,994,513 (GRCm39)	P159H	probably damaging	Het
Pkhd1l1	C	T	15: 44,343,003 (GRCm39)	T160I	probably damaging	Het
Prelid3a	C	T	18: 67,605,941 (GRCm39)	T16M	probably damaging	Het
Prl7b1	A	T	13: 27,786,854 (GRCm39)	M125K	possibly damaging	Het
Rars1	C	A	11: 35,708,363 (GRCm39)		probably benign	Het
Ripk1	A	G	13: 34,200,991 (GRCm39)	T235A	probably benign	Het
Slc38a2	C	A	15: 96,589,643 (GRCm39)	V363L	probably benign	Het
Slc6a21	G	A	7: 44,929,952 (GRCm39)	A147T	possibly damaging	Het
Tgfb3	T	C	12: 86,116,684 (GRCm39)	N118S	probably benign	Het
Tmem175	T	C	5: 108,786,525 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,757,436 (GRCm39)	N252K	probably benign	Het
Trappc8	G	T	18: 20,999,211 (GRCm39)	C305*	probably null	Het
Tyro3	T	C	2: 119,636,126 (GRCm39)	V223A	probably damaging	Het
Yipf2	C	T	9: 21,501,177 (GRCm39)	V74M	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
R3033:Lypd8	UTSW	11	58,275,453 (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'- TCTCAGGACAGTGTGATAACG -3'
(R):5'- TGAACCTGGGGTGTGACTAC -3'

Sequencing Primer
(F):5'- CGTGAATCTAAGTAACGGCTTTCC -3'
(R):5'- GCAACCAGATGTAGCCCTAG -3'

Posted On

2014-10-30