Mutagenetix > Incidental Mutation

Incidental Mutation 'R3779:Pinlyp'

271961

Institutional Source

Beutler Lab

Gene Symbol

Pinlyp

Ensembl Gene

ENSMUSG00000011632

Gene Name

phospholipase A2 inhibitor and LY6/PLAUR domain containing

Synonyms

2310033E01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3779 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

24241083-24245543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24241260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 181 (T181S)

Ref Sequence

ENSEMBL: ENSMUSP00000011776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011776] [ENSMUST00000049020] [ENSMUST00000205573]

AlphaFold

Q9CQD7

Predicted Effect

probably benign
Transcript: ENSMUST00000011776
AA Change: T181S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000011776
Gene: ENSMUSG00000011632
AA Change: T181S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LU	27	123	9.63e-2	SMART
Pfam:UPAR_LY6	126	191	1.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049020

SMART Domains

Protein: ENSMUSP00000036699
Gene: ENSMUSG00000041037

Domain	Start	End	E-Value	Type
SCOP:d4tmka_	12	61	7e-3	SMART
low complexity region	64	75	N/A	INTRINSIC
low complexity region	92	112	N/A	INTRINSIC
low complexity region	132	145	N/A	INTRINSIC
low complexity region	236	267	N/A	INTRINSIC
low complexity region	409	455	N/A	INTRINSIC
low complexity region	520	538	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205573

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,273 (GRCm39)	C73R	probably damaging	Het
Acot10	A	G	15: 20,665,628 (GRCm39)	V371A	probably damaging	Het
Ambn	C	A	5: 88,613,201 (GRCm39)		probably benign	Het
Ankrd34a	T	C	3: 96,506,247 (GRCm39)	F484L	possibly damaging	Het
Bcl11a	A	G	11: 24,114,568 (GRCm39)	K637R	probably damaging	Het
Cenpe	T	C	3: 134,962,337 (GRCm39)	S1968P	possibly damaging	Het
Cfap61	T	C	2: 145,792,714 (GRCm39)	I52T	probably damaging	Het
Cit	A	T	5: 115,997,400 (GRCm39)	M128L	probably benign	Het
Cnga1	G	T	5: 72,762,126 (GRCm39)	L463I	probably damaging	Het
Dnah11	C	T	12: 118,094,448 (GRCm39)		probably benign	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,839,515 (GRCm39)	I1853T	unknown	Het
Flg2	C	T	3: 93,109,730 (GRCm39)	S586L	unknown	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm21886	G	T	18: 80,132,649 (GRCm39)	Q170K	possibly damaging	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Gm9376	T	C	14: 118,504,727 (GRCm39)	V53A	probably benign	Het
H2-T3	T	C	17: 36,500,574 (GRCm39)	T90A	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmgcs2	C	T	3: 98,206,428 (GRCm39)		probably benign	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Jak1	G	A	4: 101,013,687 (GRCm39)	H1014Y	probably benign	Het
Klrb1c	T	C	6: 128,757,306 (GRCm39)	D253G	probably damaging	Het
Lpin1	G	A	12: 16,614,569 (GRCm39)	T404M	probably damaging	Het
Map3k9	A	T	12: 81,790,565 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,039,926 (GRCm39)		probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Or6c38	A	G	10: 128,929,165 (GRCm39)	F226S	possibly damaging	Het
Pdgfrb	T	A	18: 61,205,738 (GRCm39)	S575T	probably damaging	Het
Phldb2	T	C	16: 45,569,118 (GRCm39)	Y1247C	probably damaging	Het
Pkn2	A	G	3: 142,499,741 (GRCm39)	V928A	possibly damaging	Het
Skint5	C	T	4: 113,636,237 (GRCm39)		probably benign	Het
Slc24a1	A	G	9: 64,855,579 (GRCm39)	Y443H	unknown	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syncrip	A	C	9: 88,358,992 (GRCm39)	D172E	probably damaging	Het
Tex26	T	C	5: 149,369,316 (GRCm39)	I48T	probably damaging	Het
Trpm6	A	C	19: 18,853,403 (GRCm39)	I1808L	possibly damaging	Het
Uba2	T	C	7: 33,854,071 (GRCm39)		probably null	Het
Vwa8	T	A	14: 79,339,762 (GRCm39)		probably benign	Het
Wfs1	C	A	5: 37,125,968 (GRCm39)	V308L	probably benign	Het
Wrn	T	A	8: 33,731,048 (GRCm39)	R1095W	probably damaging	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	probably damaging	Het

Other mutations in Pinlyp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB001:Pinlyp	UTSW	7	24,241,550 (GRCm39)	missense	possibly damaging	0.79
BB011:Pinlyp	UTSW	7	24,241,550 (GRCm39)	missense	possibly damaging	0.79
R0454:Pinlyp	UTSW	7	24,241,947 (GRCm39)	missense	possibly damaging	0.77
R1298:Pinlyp	UTSW	7	24,244,391 (GRCm39)	missense	probably damaging	1.00
R2163:Pinlyp	UTSW	7	24,241,226 (GRCm39)	missense	probably benign	0.41
R2219:Pinlyp	UTSW	7	24,245,433 (GRCm39)	unclassified	probably benign
R4777:Pinlyp	UTSW	7	24,241,568 (GRCm39)	missense	possibly damaging	0.57
R5432:Pinlyp	UTSW	7	24,241,892 (GRCm39)	missense	probably damaging	1.00
R6101:Pinlyp	UTSW	7	24,245,405 (GRCm39)	missense	possibly damaging	0.70
R7855:Pinlyp	UTSW	7	24,241,865 (GRCm39)	critical splice donor site	probably null
R7924:Pinlyp	UTSW	7	24,241,550 (GRCm39)	missense	possibly damaging	0.79
R7949:Pinlyp	UTSW	7	24,245,375 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAAGATGCATCTGTCACAAGG -3'
(R):5'- AGGAAGTTCCGTAGTACTGGATG -3'

Sequencing Primer
(F):5'- CACAAGGAATGAGGTTTGTACTGTC -3'
(R):5'- AAGTTCCGTAGTACTGGATGATGGTG -3'

Posted On

2015-03-25