Mutagenetix > Incidental Mutation

Incidental Mutation 'R7601:Pnliprp1'

588032

Institutional Source

Beutler Lab

Gene Symbol

Pnliprp1

Ensembl Gene

ENSMUSG00000042179

Gene Name

pancreatic lipase related protein 1

Synonyms

Plrp1

MMRRC Submission

045643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58717319-58732601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58720526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 134 (T134M)

Ref Sequence

ENSEMBL: ENSMUSP00000045465 (fasta)

Gene Model

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

AlphaFold

Q5BKQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048644
AA Change: T134M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045465
Gene: ENSMUSG00000042179
AA Change: T134M

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,741 (GRCm39)	L16P	probably damaging	Het
Abcc5	A	T	16: 20,193,882 (GRCm39)	Y746*	probably null	Het
Abcd4	A	G	12: 84,660,719 (GRCm39)	Y129H	possibly damaging	Het
Acot10	T	C	15: 20,665,715 (GRCm39)	D342G	probably damaging	Het
Als2	G	T	1: 59,209,161 (GRCm39)	T1466K	probably benign	Het
Calcr	A	T	6: 3,687,603 (GRCm39)	I465N	probably benign	Het
Ccndbp1	T	C	2: 120,846,627 (GRCm39)	S309P	probably damaging	Het
Cdh22	A	G	2: 164,954,466 (GRCm39)	L685P	probably damaging	Het
Cenps	A	G	4: 149,216,772 (GRCm39)	V39A	possibly damaging	Het
Dbr1	G	T	9: 99,464,655 (GRCm39)	E145*	probably null	Het
Dync1i1	T	A	6: 5,905,129 (GRCm39)	V161E	probably benign	Het
Eeig2	T	A	3: 108,895,628 (GRCm39)	T151S	possibly damaging	Het
F10	A	G	8: 13,100,781 (GRCm39)	T232A	probably benign	Het
Faim2	C	T	15: 99,398,147 (GRCm39)	G279D	probably damaging	Het
Fam114a2	T	C	11: 57,405,042 (GRCm39)	K20R	possibly damaging	Het
Hspa4l	T	C	3: 40,738,788 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,080,394 (GRCm39)	I733L	probably benign	Het
Itga11	T	C	9: 62,604,208 (GRCm39)	V32A	probably benign	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lum	A	T	10: 97,404,168 (GRCm39)	Y21F	probably damaging	Het
Muc6	A	G	7: 141,216,454 (GRCm39)	S2740P	unknown	Het
Nav1	A	T	1: 135,388,176 (GRCm39)	D1082E	unknown	Het
Nmur1	A	C	1: 86,315,741 (GRCm39)	C41W	probably damaging	Het
Or10ad1c	G	A	15: 98,084,860 (GRCm39)	H273Y	probably damaging	Het
Or4k37	T	C	2: 111,159,565 (GRCm39)	V267A	probably benign	Het
Or5k3	A	G	16: 58,969,597 (GRCm39)	N128S	probably benign	Het
Or8b41	T	C	9: 38,054,674 (GRCm39)	V76A	probably benign	Het
Pdcd11	T	C	19: 47,094,808 (GRCm39)	S531P	not run	Het
Phtf1	T	A	3: 103,901,161 (GRCm39)	H403Q	probably benign	Het
Piezo1	C	T	8: 123,210,220 (GRCm39)		probably null	Het
Pigh	G	A	12: 79,132,479 (GRCm39)	T111I	probably damaging	Het
Plekhf1	T	C	7: 37,921,304 (GRCm39)	E88G	probably damaging	Het
Ptges	T	A	2: 30,782,809 (GRCm39)	Y81F	probably benign	Het
Sema7a	T	C	9: 57,847,560 (GRCm39)	S43P	probably benign	Het
Sephs2	A	T	7: 126,872,118 (GRCm39)	I325K	probably damaging	Het
Slc45a1	A	T	4: 150,713,994 (GRCm39)	N750K	possibly damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tbc1d23	A	T	16: 57,001,897 (GRCm39)	M519K	probably benign	Het
Trdn	A	G	10: 33,072,152 (GRCm39)	E273G	probably benign	Het
Ubtf	G	A	11: 102,197,480 (GRCm39)	S724F	unknown	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	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
IGL02367:Pnliprp1	APN	19	58,726,601 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTCCAGACTGTATCAACACC -3'
(R):5'- GCTTTGCCTCACACAGATGC -3'

Sequencing Primer
(F):5'- CCCAGCTAGAAGACACGAGG -3'
(R):5'- TGGCAAGCTGGTTAAACTCC -3'

Posted On

2019-10-24