Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Pnliprp1'

489558

Institutional Source

Beutler Lab

Gene Symbol

Pnliprp1

Ensembl Gene

ENSMUSG00000042179

Gene Name

pancreatic lipase related protein 1

Synonyms

Plrp1

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58728887-58744169 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 58730133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048644]

AlphaFold

Q5BKQ4

Predicted Effect

probably null
Transcript: ENSMUST00000048644

SMART Domains

Protein: ENSMUSP00000045465
Gene: ENSMUSG00000042179

Domain	Start	End	E-Value	Type
Pfam:Lipase	18	353	9.1e-157	PFAM
LH2	356	467	1.98e-17	SMART

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,963,644 (GRCm38)	Y319C	probably benign	Het
Actn4	A	C	7: 28,896,141 (GRCm38)	I763S	probably damaging	Het
Actr8	G	A	14: 29,978,589 (GRCm38)		probably null	Het
Adrb1	T	C	19: 56,722,904 (GRCm38)	L178P	probably damaging	Het
Afap1	A	G	5: 35,935,609 (GRCm38)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,687,442 (GRCm38)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,036,520 (GRCm38)	V76G	probably damaging	Het
B230118H07Rik	A	T	2: 101,576,010 (GRCm38)		probably null	Het
Bmp1	A	T	14: 70,508,007 (GRCm38)	I246K	probably damaging	Het
Camk4	A	T	18: 32,939,447 (GRCm38)	T18S	unknown	Het
Cep152	T	C	2: 125,581,700 (GRCm38)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,819,357 (GRCm38)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,980,273 (GRCm38)	T54P	probably damaging	Het
Cox20	A	G	1: 178,321,797 (GRCm38)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,753,017 (GRCm38)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,903,231 (GRCm38)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,910,359 (GRCm38)	H700Q	probably null	Het
Dnah10	A	G	5: 124,785,175 (GRCm38)	T2165A	probably damaging	Het
Dnah10	G	A	5: 124,770,599 (GRCm38)	V1516M	probably damaging	Het
Dock2	C	G	11: 34,294,123 (GRCm38)	M1072I	probably benign	Het
F11	T	A	8: 45,252,082 (GRCm38)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,316,523 (GRCm38)	I245F	probably damaging	Het
Gm13101	T	A	4: 143,965,142 (GRCm38)	H337L	probably benign	Het
Gm8909	G	A	17: 36,167,507 (GRCm38)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,433,423 (GRCm38)	C1685S	possibly damaging	Het
Il20	G	T	1: 130,910,740 (GRCm38)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,886,527 (GRCm38)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,588,378 (GRCm38)	I220V	probably benign	Het
Lce1j	T	G	3: 92,789,072 (GRCm38)	Q133P	unknown	Het
Lgals9	C	T	11: 78,963,505 (GRCm38)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,466,727 (GRCm38)		probably benign	Het
Map3k5	A	T	10: 20,118,441 (GRCm38)	H1027L	probably benign	Het
Morc3	A	G	16: 93,862,425 (GRCm38)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,108,695 (GRCm38)		probably null	Het
Ncapg2	T	C	12: 116,438,011 (GRCm38)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,407,448 (GRCm38)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,431,051 (GRCm38)	F298I	probably damaging	Het
Npas2	G	A	1: 39,287,476 (GRCm38)	R14Q	probably damaging	Het
Npas4	C	T	19: 4,986,870 (GRCm38)	C422Y	probably damaging	Het
Olfr1230	A	G	2: 89,296,421 (GRCm38)	L283S	probably damaging	Het
Olfr1381	T	A	11: 49,552,584 (GRCm38)	I279N	possibly damaging	Het
Olfr481	T	C	7: 108,081,286 (GRCm38)	V164A	probably benign	Het
Olfr749	T	C	14: 50,736,619 (GRCm38)	D181G	probably benign	Het
Pcdhga4	T	C	18: 37,686,493 (GRCm38)	I365T	probably damaging	Het
Pear1	T	A	3: 87,759,568 (GRCm38)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,853,693 (GRCm38)	F24I	probably benign	Het
Plcb3	G	A	19: 6,966,165 (GRCm38)	A122V	probably damaging	Het
Psmb3	T	A	11: 97,712,452 (GRCm38)	F164I	probably damaging	Het
Ptch2	T	A	4: 117,096,908 (GRCm38)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,387,781 (GRCm38)		probably benign	Het
Pusl1	A	G	4: 155,890,548 (GRCm38)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,402,501 (GRCm38)	L35I	probably damaging	Het
Rictor	T	C	15: 6,793,977 (GRCm38)	L1545P	probably benign	Het
Rtn4r	A	T	16: 18,151,394 (GRCm38)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,479,125 (GRCm38)		probably null	Het
Slc35b3	A	T	13: 38,944,596 (GRCm38)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,398,697 (GRCm38)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,393,267 (GRCm38)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,137,403 (GRCm38)	L999R	probably damaging	Het
Taf4	A	G	2: 179,913,524 (GRCm38)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,891,509 (GRCm38)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,956,489 (GRCm38)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,737,616 (GRCm38)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,700,726 (GRCm38)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,428,690 (GRCm38)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,065,881 (GRCm38)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,022,038 (GRCm38)		probably null	Het
Zzz3	A	G	3: 152,427,682 (GRCm38)	I126V	possibly damaging	Het

Other mutations in Pnliprp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Pnliprp1	APN	19	58,734,730 (GRCm38)	missense	probably damaging	1.00
IGL02367:Pnliprp1	APN	19	58,738,169 (GRCm38)	missense	probably benign
R0463:Pnliprp1	UTSW	19	58,738,196 (GRCm38)	nonsense	probably null
R0573:Pnliprp1	UTSW	19	58,734,882 (GRCm38)	missense	possibly damaging	0.89
R0591:Pnliprp1	UTSW	19	58,734,706 (GRCm38)	missense	probably damaging	1.00
R0608:Pnliprp1	UTSW	19	58,738,196 (GRCm38)	nonsense	probably null
R1169:Pnliprp1	UTSW	19	58,734,951 (GRCm38)	missense	probably damaging	1.00
R1575:Pnliprp1	UTSW	19	58,740,469 (GRCm38)	missense	probably benign	0.07
R1723:Pnliprp1	UTSW	19	58,732,142 (GRCm38)	missense	possibly damaging	0.79
R1879:Pnliprp1	UTSW	19	58,744,084 (GRCm38)	missense	probably benign	0.07
R1955:Pnliprp1	UTSW	19	58,734,972 (GRCm38)	missense	possibly damaging	0.94
R2090:Pnliprp1	UTSW	19	58,740,469 (GRCm38)	missense	probably benign	0.03
R2092:Pnliprp1	UTSW	19	58,741,184 (GRCm38)	missense	probably benign	0.02
R2342:Pnliprp1	UTSW	19	58,741,259 (GRCm38)	splice site	probably benign
R2421:Pnliprp1	UTSW	19	58,744,085 (GRCm38)	missense	probably benign	0.21
R4716:Pnliprp1	UTSW	19	58,740,469 (GRCm38)	missense	possibly damaging	0.61
R5463:Pnliprp1	UTSW	19	58,734,736 (GRCm38)	missense	probably damaging	1.00
R5478:Pnliprp1	UTSW	19	58,734,991 (GRCm38)	splice site	probably null
R6284:Pnliprp1	UTSW	19	58,734,984 (GRCm38)	missense	probably damaging	1.00
R7107:Pnliprp1	UTSW	19	58,729,150 (GRCm38)	missense	probably damaging	1.00
R7454:Pnliprp1	UTSW	19	58,741,100 (GRCm38)	missense	probably benign	0.29
R7470:Pnliprp1	UTSW	19	58,732,025 (GRCm38)	missense	possibly damaging	0.48
R7574:Pnliprp1	UTSW	19	58,738,249 (GRCm38)	missense	probably damaging	1.00
R7601:Pnliprp1	UTSW	19	58,732,094 (GRCm38)	missense	probably damaging	0.99
R8782:Pnliprp1	UTSW	19	58,730,593 (GRCm38)	missense	probably damaging	1.00
R9081:Pnliprp1	UTSW	19	58,734,974 (GRCm38)	missense	probably benign
R9445:Pnliprp1	UTSW	19	58,732,196 (GRCm38)	intron	probably benign
R9466:Pnliprp1	UTSW	19	58,734,649 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATAGCTTCCTCCTGAGCCC -3'
(R):5'- TCAAGGCTGAGCACAGAGTC -3'

Sequencing Primer
(F):5'- TCCTGAGCCCATCCATCC -3'
(R):5'- GATGGGGCTTACACAGTTATCATTCC -3'

Posted On

2017-10-10