Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Lypd6'

634082

Institutional Source

Beutler Lab

Gene Symbol

Lypd6

Ensembl Gene

ENSMUSG00000050447

Gene Name

LY6/PLAUR domain containing 6

Synonyms

E130115E03Rik

MMRRC Submission

067597-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50066429-50193569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50190747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 149 (T149M)

Ref Sequence

ENSEMBL: ENSMUSP00000061578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053208] [ENSMUST00000112712] [ENSMUST00000128451] [ENSMUST00000169232]

AlphaFold

Q8BPP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053208
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061578
Gene: ENSMUSG00000050447
AA Change: T149M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	47	141	1.04e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112712
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108332
Gene: ENSMUSG00000050447
AA Change: T149M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	47	141	1.04e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128451

SMART Domains

Protein: ENSMUSP00000116803
Gene: ENSMUSG00000050447

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:LU	47	123	4e-51	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169232
AA Change: T149M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131002
Gene: ENSMUSG00000050447
AA Change: T149M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	47	141	1.04e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,025 (GRCm38)	A661E	probably benign	Het
4932438A13Rik	T	C	3: 36,975,713 (GRCm38)	V2423A	probably benign	Het
4933425L06Rik	T	A	13: 105,109,783 (GRCm38)	V284E	probably benign	Het
Abhd14a	T	A	9: 106,440,761 (GRCm38)	T142S	probably benign	Het
Actn1	A	G	12: 80,196,393 (GRCm38)		probably null	Het
Adss	T	C	1: 177,796,351 (GRCm38)	N15S	probably benign	Het
Alpk2	A	G	18: 65,305,983 (GRCm38)	S780P	probably benign	Het
Asap1	G	T	15: 64,110,966 (GRCm38)	L830M	probably damaging	Het
Atic	T	C	1: 71,569,873 (GRCm38)	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,046,044 (GRCm38)	I87N	probably damaging	Het
Bace2	G	T	16: 97,424,586 (GRCm38)	V407L	possibly damaging	Het
Bmp3	A	T	5: 98,872,669 (GRCm38)	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,933,711 (GRCm38)	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,516,554 (GRCm38)	L89Q	probably damaging	Het
Cep83	T	A	10: 94,768,935 (GRCm38)	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,147,207 (GRCm38)	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,288 (GRCm38)	D579E	probably damaging	Het
Chd9	T	A	8: 91,025,387 (GRCm38)	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,903,906 (GRCm38)	T937S	possibly damaging	Het
Clock	T	A	5: 76,266,414 (GRCm38)	D17V	possibly damaging	Het
Cpm	T	C	10: 117,683,315 (GRCm38)	L376P	probably damaging	Het
Crocc2	T	C	1: 93,189,001 (GRCm38)		probably null	Het
Csnk1g2	A	G	10: 80,639,802 (GRCm38)	D401G	probably damaging	Het
Cyb5r4	C	T	9: 87,042,810 (GRCm38)	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,700,196 (GRCm38)	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,085,774 (GRCm38)	H30L	probably damaging	Het
Dab2	G	A	15: 6,423,926 (GRCm38)	V182I	probably benign	Het
Dnah1	G	T	14: 31,297,110 (GRCm38)	F1342L	probably damaging	Het
Draxin	A	T	4: 148,115,666 (GRCm38)	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,971,357 (GRCm38)	V39M	probably damaging	Het
Erlin1	A	G	19: 44,069,329 (GRCm38)	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,300,078 (GRCm38)	S78T	possibly damaging	Het
Fer1l4	A	G	2: 156,048,231 (GRCm38)	V258A	probably benign	Het
Fgb	T	C	3: 83,042,515 (GRCm38)	D445G	probably damaging	Het
Fgd6	T	C	10: 94,074,332 (GRCm38)		probably null	Het
Frem3	T	A	8: 80,615,240 (GRCm38)	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,609,903 (GRCm38)	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167 (GRCm38)	A511V	probably benign	Het
Gldc	A	T	19: 30,133,761 (GRCm38)	N538K	probably benign	Het
Glipr1l1	C	T	10: 112,078,384 (GRCm38)	P217S	probably benign	Het
Gm35339	C	A	15: 76,363,619 (GRCm38)	F1614L		Het
Gpr161	A	G	1: 165,306,436 (GRCm38)	N89S	probably damaging	Het
Gypa	T	A	8: 80,509,463 (GRCm38)	S166T	probably benign	Het
Hcar1	A	G	5: 123,879,089 (GRCm38)	S180P	probably damaging	Het
Hcn1	T	C	13: 117,602,734 (GRCm38)	S11P	unknown	Het
Hectd4	A	G	5: 121,318,756 (GRCm38)	E728G	possibly damaging	Het
Ints14	A	T	9: 64,973,250 (GRCm38)	H213L	possibly damaging	Het
Itih1	A	T	14: 30,937,090 (GRCm38)	M323K	possibly damaging	Het
Ivl	A	G	3: 92,571,778 (GRCm38)	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,509,465 (GRCm38)	N545K	probably benign	Het
Kdm4b	A	T	17: 56,389,534 (GRCm38)	R417W	probably damaging	Het
Kif13a	T	C	13: 46,778,968 (GRCm38)	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,778,557 (GRCm38)	H261L	probably benign	Het
Kpnb1	A	G	11: 97,175,747 (GRCm38)		probably null	Het
Lamc3	C	A	2: 31,914,971 (GRCm38)	T621N	probably benign	Het
Lingo3	T	C	10: 80,834,761 (GRCm38)	H445R	probably benign	Het
Ly75	G	A	2: 60,314,228 (GRCm38)	T1297I	possibly damaging	Het
Mcrs1	A	T	15: 99,248,732 (GRCm38)	D139E	probably damaging	Het
Muc5b	G	A	7: 141,861,000 (GRCm38)	S2561N	unknown	Het
Mybpc1	C	T	10: 88,523,003 (GRCm38)	G1095R	probably damaging	Het
Myh1	A	G	11: 67,202,572 (GRCm38)	Y163C	probably damaging	Het
Notch4	T	A	17: 34,582,509 (GRCm38)	C1110*	probably null	Het
Olfr1257	A	G	2: 89,881,065 (GRCm38)	I80V	probably benign	Het
Olfr527	A	T	7: 140,336,230 (GRCm38)	I123F	probably damaging	Het
Olfr705	C	T	7: 106,714,618 (GRCm38)	S21N	probably benign	Het
Olfr705	T	A	7: 106,714,619 (GRCm38)	S21C		Het
Pcsk1	T	A	13: 75,090,091 (GRCm38)	C10*	probably null	Het
Pdlim5	A	T	3: 142,312,187 (GRCm38)	S107T	probably benign	Het
Plac8l1	T	A	18: 42,180,380 (GRCm38)	D99V	probably damaging	Het
Plin2	A	T	4: 86,657,112 (GRCm38)	V400E	probably damaging	Het
Plxna1	G	A	6: 89,357,120 (GRCm38)	P176S	probably benign	Het
Pnn	A	G	12: 59,070,437 (GRCm38)	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,510,036 (GRCm38)	E231G	probably benign	Het
Ppara	A	T	15: 85,797,876 (GRCm38)	M258L	probably benign	Het
Prune2	G	A	19: 17,120,518 (GRCm38)	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,163 (GRCm38)	T47M	probably damaging	Het
Rdh5	T	C	10: 128,918,100 (GRCm38)	I117V	probably benign	Het
Rpain	G	A	11: 70,973,898 (GRCm38)	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,530,810 (GRCm38)	V126A	possibly damaging	Het
Senp7	G	T	16: 56,111,726 (GRCm38)	L129F	probably damaging	Het
Setd1a	A	G	7: 127,791,227 (GRCm38)	D1025G	unknown	Het
Sirt4	A	T	5: 115,483,023 (GRCm38)	V30E	probably damaging	Het
Slit1	C	A	19: 41,727,073 (GRCm38)	R113L	probably damaging	Het
Stxbp5l	G	A	16: 37,208,054 (GRCm38)	T549I	noncoding transcript	Het
Sytl2	A	G	7: 90,409,470 (GRCm38)	M926V	probably damaging	Het
Tgfbr2	C	T	9: 116,130,006 (GRCm38)	W113*	probably null	Het
Tmem86a	A	G	7: 47,053,764 (GRCm38)	Y213C	probably damaging	Het
Tpo	T	A	12: 30,104,046 (GRCm38)	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,673,310 (GRCm38)	A889E	probably damaging	Het
Tyw1	A	G	5: 130,300,014 (GRCm38)	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,409,227 (GRCm38)	K17R	probably benign	Het
Usp46	T	A	5: 74,002,693 (GRCm38)	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,573,092 (GRCm38)	H61R	probably benign	Het
Wdr75	T	A	1: 45,822,546 (GRCm38)	N715K	probably benign	Het
Zfp772	A	T	7: 7,204,097 (GRCm38)	C198*	probably null	Het

Other mutations in Lypd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Lypd6	APN	2	50,188,783 (GRCm38)	missense	probably benign	0.16
IGL02476:Lypd6	APN	2	50,190,728 (GRCm38)	missense	possibly damaging	0.84
R0098:Lypd6	UTSW	2	50,190,780 (GRCm38)	missense	probably benign	0.01
R0098:Lypd6	UTSW	2	50,190,780 (GRCm38)	missense	probably benign	0.01
R0302:Lypd6	UTSW	2	50,165,667 (GRCm38)	splice site	probably benign
R0464:Lypd6	UTSW	2	50,190,678 (GRCm38)	missense	probably damaging	1.00
R1577:Lypd6	UTSW	2	50,190,698 (GRCm38)	nonsense	probably null
R1843:Lypd6	UTSW	2	50,188,762 (GRCm38)	missense	possibly damaging	0.94
R2849:Lypd6	UTSW	2	50,165,652 (GRCm38)	missense	probably damaging	1.00
R4663:Lypd6	UTSW	2	50,173,611 (GRCm38)	nonsense	probably null
R4716:Lypd6	UTSW	2	50,188,843 (GRCm38)	critical splice donor site	probably null
R5802:Lypd6	UTSW	2	50,173,601 (GRCm38)	missense	probably benign	0.25
R8798:Lypd6	UTSW	2	50,188,762 (GRCm38)	missense	possibly damaging	0.94
R9653:Lypd6	UTSW	2	50,190,746 (GRCm38)	missense	probably benign	0.01
Z1177:Lypd6	UTSW	2	50,190,807 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCATTTGCTAAGACGGAGAC -3'
(R):5'- TAATGGGTGGCTGCGATGAC -3'

Sequencing Primer
(F):5'- TAAGACGGAGACTGTTCCTTCCAG -3'
(R):5'- GGCTGCGATGACGTCTG -3'

Posted On

2020-07-13