Mutagenetix > Incidental Mutation

Incidental Mutation 'R1298:Pinlyp'

158213

Institutional Source

Beutler Lab

Gene Symbol

Pinlyp

Ensembl Gene

ENSMUSG00000011632

Gene Name

phospholipase A2 inhibitor and LY6/PLAUR domain containing

Synonyms

2310033E01Rik

MMRRC Submission

039364-MU

Accession Numbers

Essential gene?

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

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24241083-24245543 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24244391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 51 (D51V)

Ref Sequence

ENSEMBL: ENSMUSP00000011776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011776] [ENSMUST00000063249] [ENSMUST00000205573]

AlphaFold

Q9CQD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000011776
AA Change: D51V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011776
Gene: ENSMUSG00000011632
AA Change: D51V

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: ENSMUST00000063249

SMART Domains

Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	151	6.9e-66	PFAM
low complexity region	212	238	N/A	INTRINSIC
low complexity region	278	294	N/A	INTRINSIC
BRCT	317	393	8e-19	SMART
low complexity region	407	424	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
BRCT	538	617	5.5e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205561

Predicted Effect

probably benign
Transcript: ENSMUST00000205573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206889

Meta Mutation Damage Score

0.1279

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	G	6: 116,404,225 (GRCm39)	W145R	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Bbs4	A	T	9: 59,247,096 (GRCm39)	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593 (GRCm39)	V346A	probably benign	Het
Cdk18	A	C	1: 132,050,189 (GRCm39)		probably benign	Het
Cyp2j11	C	T	4: 96,195,497 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,136,118 (GRCm39)	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,852,752 (GRCm39)	E118G	probably benign	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Eif1ad5	T	A	12: 87,946,853 (GRCm39)	D98E	probably benign	Het
Gm14496	T	C	2: 181,637,885 (GRCm39)	F320L	probably benign	Het
Gsdmc3	A	T	15: 63,732,130 (GRCm39)	L299M	probably damaging	Het
H6pd	T	C	4: 150,066,971 (GRCm39)	I472V	probably benign	Het
Hao2	G	T	3: 98,790,985 (GRCm39)	T63K	possibly damaging	Het
Jag2	C	T	12: 112,879,939 (GRCm39)		probably benign	Het
Mapre3	A	G	5: 31,022,211 (GRCm39)	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,393,334 (GRCm39)	S2966P	probably damaging	Het
Nsd3	T	A	8: 26,169,952 (GRCm39)	V696E	possibly damaging	Het
Obscn	A	G	11: 58,945,723 (GRCm39)	Y4163H	possibly damaging	Het
Or11h4b	A	T	14: 50,918,337 (GRCm39)	Y251*	probably null	Het
Or12e8	G	A	2: 87,188,414 (GRCm39)	A209T	probably benign	Het
Or6c3	G	T	10: 129,308,933 (GRCm39)	C124F	probably damaging	Het
Pde2a	A	G	7: 101,156,409 (GRCm39)	E607G	probably benign	Het
Rcbtb2	T	A	14: 73,399,828 (GRCm39)	I87N	probably damaging	Het
Sfswap	A	G	5: 129,618,442 (GRCm39)	I459V	probably benign	Het
Slitrk6	T	C	14: 110,989,297 (GRCm39)	N137D	possibly damaging	Het
Smg1	A	T	7: 117,767,434 (GRCm39)		probably benign	Het
Sobp	T	A	10: 42,898,331 (GRCm39)	H418L	probably damaging	Het
Spock1	A	C	13: 57,660,563 (GRCm39)	D180E	probably benign	Het
Upk3a	G	A	15: 84,904,752 (GRCm39)	V167I	probably benign	Het
Vmn1r180	T	C	7: 23,652,572 (GRCm39)	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,396,775 (GRCm39)	E149G	probably benign	Het
Zgrf1	T	C	3: 127,377,538 (GRCm39)	C44R	possibly 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
R2163:Pinlyp	UTSW	7	24,241,226 (GRCm39)	missense	probably benign	0.41
R2219:Pinlyp	UTSW	7	24,245,433 (GRCm39)	unclassified	probably benign
R3779:Pinlyp	UTSW	7	24,241,260 (GRCm39)	missense	probably benign	0.20
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'- TGTGTCCTCTCATAGTTACCTCACCAAG -3'
(R):5'- AAAGCCCAAGTCACGGTCTGAAG -3'

Sequencing Primer
(F):5'- agaccattgtgagccacc -3'
(R):5'- ACGGTCTGAAGACCTTCTTTAAC -3'

Posted On

2014-02-18