Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02367:Pnliprp1'

290783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnliprp1

Ensembl Gene

ENSMUSG00000042179

Gene Name

pancreatic lipase related protein 1

Synonyms

Plrp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02367

Quality Score

Status

Chromosome

Chromosomal Location

58717319-58732601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58726601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 319 (D319E)

Ref Sequence

ENSEMBL: ENSMUSP00000045465 (fasta)

Gene Model

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

AlphaFold

Q5BKQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000048644
AA Change: D319E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045465
Gene: ENSMUSG00000042179
AA Change: D319E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,748 (GRCm39)	L1215P	probably benign	Het
Angptl7	T	C	4: 148,584,601 (GRCm39)	N49S	possibly damaging	Het
Asns	A	G	6: 7,685,411 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,781,194 (GRCm39)	Y1419*	probably null	Het
Bptf	A	T	11: 106,964,178 (GRCm39)	I1672N	probably benign	Het
Cgas	G	A	9: 78,341,667 (GRCm39)	T370I	probably benign	Het
Chd1	A	G	17: 17,610,315 (GRCm39)	T490A	probably damaging	Het
Cyfip2	A	T	11: 46,167,732 (GRCm39)	C223*	probably null	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dnah12	T	C	14: 26,430,316 (GRCm39)	V308A	probably benign	Het
Dync2h1	A	G	9: 7,158,926 (GRCm39)	V703A	probably damaging	Het
Fgd3	A	G	13: 49,440,802 (GRCm39)	F210L	probably damaging	Het
Gm6526	T	G	14: 43,988,262 (GRCm39)	V171G	probably damaging	Het
Grin3a	A	G	4: 49,702,805 (GRCm39)	Y894H	probably damaging	Het
Grm3	C	A	5: 9,561,660 (GRCm39)	C730F	probably damaging	Het
Habp4	C	A	13: 64,321,905 (GRCm39)	P181T	probably damaging	Het
Hdac4	A	G	1: 91,886,171 (GRCm39)		probably benign	Het
Ints5	A	G	19: 8,872,959 (GRCm39)	D306G	probably benign	Het
Mid2	T	A	X: 139,637,245 (GRCm39)	I273N	probably damaging	Het
Ndufs2	A	T	1: 171,066,934 (GRCm39)	Y114*	probably null	Het
Neu4	G	T	1: 93,952,213 (GRCm39)	R194L	probably damaging	Het
Ntng1	A	T	3: 110,042,829 (GRCm39)		probably null	Het
Nub1	A	G	5: 24,894,392 (GRCm39)	M1V	probably null	Het
Olfml2a	A	G	2: 38,844,680 (GRCm39)	T379A	probably benign	Het
Or9e1	A	T	11: 58,732,338 (GRCm39)	I133F	probably benign	Het
Pex3	G	T	10: 13,400,643 (GRCm39)	Q303K	probably benign	Het
Pmp2	A	T	3: 10,247,560 (GRCm39)	I43N	probably damaging	Het
Rap1gap2	A	T	11: 74,288,181 (GRCm39)		probably null	Het
Rpl15-ps6	T	C	15: 52,341,368 (GRCm39)		noncoding transcript	Het
Rwdd3	A	G	3: 120,952,679 (GRCm39)	V104A	probably damaging	Het
Sbf1	A	T	15: 89,191,775 (GRCm39)	V157E	probably damaging	Het
Slc4a11	T	A	2: 130,526,879 (GRCm39)	I750F	probably damaging	Het
Tcea1	G	A	1: 4,948,356 (GRCm39)		probably null	Het
Ush2a	A	T	1: 188,516,943 (GRCm39)	M3218L	probably benign	Het
Utp20	G	A	10: 88,607,715 (GRCm39)		probably benign	Het
Zfp493	T	A	13: 67,935,089 (GRCm39)	Y347*	probably null	Het
Zswim6	T	C	13: 107,880,637 (GRCm39)		noncoding transcript	Het

Other mutations in Pnliprp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Pnliprp1	APN	19	58,723,162 (GRCm39)	missense	probably damaging	1.00
R0463:Pnliprp1	UTSW	19	58,726,628 (GRCm39)	nonsense	probably null
R0573:Pnliprp1	UTSW	19	58,723,314 (GRCm39)	missense	possibly damaging	0.89
R0591:Pnliprp1	UTSW	19	58,723,138 (GRCm39)	missense	probably damaging	1.00
R0608:Pnliprp1	UTSW	19	58,726,628 (GRCm39)	nonsense	probably null
R1169:Pnliprp1	UTSW	19	58,723,383 (GRCm39)	missense	probably damaging	1.00
R1575:Pnliprp1	UTSW	19	58,728,901 (GRCm39)	missense	probably benign	0.07
R1723:Pnliprp1	UTSW	19	58,720,574 (GRCm39)	missense	possibly damaging	0.79
R1879:Pnliprp1	UTSW	19	58,732,516 (GRCm39)	missense	probably benign	0.07
R1955:Pnliprp1	UTSW	19	58,723,404 (GRCm39)	missense	possibly damaging	0.94
R2090:Pnliprp1	UTSW	19	58,728,901 (GRCm39)	missense	probably benign	0.03
R2092:Pnliprp1	UTSW	19	58,729,616 (GRCm39)	missense	probably benign	0.02
R2342:Pnliprp1	UTSW	19	58,729,691 (GRCm39)	splice site	probably benign
R2421:Pnliprp1	UTSW	19	58,732,517 (GRCm39)	missense	probably benign	0.21
R4716:Pnliprp1	UTSW	19	58,728,901 (GRCm39)	missense	possibly damaging	0.61
R5463:Pnliprp1	UTSW	19	58,723,168 (GRCm39)	missense	probably damaging	1.00
R5478:Pnliprp1	UTSW	19	58,723,423 (GRCm39)	splice site	probably null
R6155:Pnliprp1	UTSW	19	58,718,565 (GRCm39)	critical splice donor site	probably null
R6284:Pnliprp1	UTSW	19	58,723,416 (GRCm39)	missense	probably damaging	1.00
R7107:Pnliprp1	UTSW	19	58,717,582 (GRCm39)	missense	probably damaging	1.00
R7454:Pnliprp1	UTSW	19	58,729,532 (GRCm39)	missense	probably benign	0.29
R7470:Pnliprp1	UTSW	19	58,720,457 (GRCm39)	missense	possibly damaging	0.48
R7574:Pnliprp1	UTSW	19	58,726,681 (GRCm39)	missense	probably damaging	1.00
R7601:Pnliprp1	UTSW	19	58,720,526 (GRCm39)	missense	probably damaging	0.99
R8782:Pnliprp1	UTSW	19	58,719,025 (GRCm39)	missense	probably damaging	1.00
R9081:Pnliprp1	UTSW	19	58,723,406 (GRCm39)	missense	probably benign
R9445:Pnliprp1	UTSW	19	58,720,628 (GRCm39)	intron	probably benign
R9466:Pnliprp1	UTSW	19	58,723,081 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16