Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Pla2g6'

598414

Institutional Source

Beutler Lab

Gene Symbol

Pla2g6

Ensembl Gene

ENSMUSG00000042632

Gene Name

phospholipase A2, group VI

Synonyms

iPLA2, iPLA2beta

MMRRC Submission

045824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79170428-79212590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79181514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 577 (D577G)

Ref Sequence

ENSEMBL: ENSMUSP00000134672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000174021]

AlphaFold

P97819

Predicted Effect

probably damaging
Transcript: ENSMUST00000047816
AA Change: D522G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: D522G

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166977
AA Change: D522G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: D522G

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172403
AA Change: D522G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: D522G

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173163
AA Change: D522G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: D522G

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174021
AA Change: D577G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: D577G

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Blast:ANK	382	411	2e-8	BLAST
Pfam:Patatin	482	666	2.9e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Gusb	A	T	5: 130,029,246 (GRCm39)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,440,239 (GRCm39)	H380R	possibly damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 23,185,252 (GRCm39)	I43F	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rspry1	C	A	8: 95,356,469 (GRCm39)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc2a1	A	G	4: 118,989,644 (GRCm39)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	possibly damaging	Het

Other mutations in Pla2g6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Pla2g6	APN	15	79,173,441 (GRCm39)	missense	probably damaging	0.96
IGL00906:Pla2g6	APN	15	79,171,947 (GRCm39)	missense	probably damaging	1.00
IGL01432:Pla2g6	APN	15	79,202,168 (GRCm39)	start codon destroyed	probably null	1.00
IGL01640:Pla2g6	APN	15	79,188,513 (GRCm39)	missense	probably benign
IGL01715:Pla2g6	APN	15	79,202,057 (GRCm39)	missense	probably benign	0.00
IGL01943:Pla2g6	APN	15	79,197,316 (GRCm39)	missense	probably null	0.00
IGL02551:Pla2g6	APN	15	79,183,294 (GRCm39)	missense	possibly damaging	0.95
IGL03120:Pla2g6	APN	15	79,171,060 (GRCm39)	missense	probably damaging	1.00
IGL03193:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03194:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03205:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
IGL03289:Pla2g6	APN	15	79,201,985 (GRCm39)	missense	probably damaging	0.98
R0288:Pla2g6	UTSW	15	79,171,106 (GRCm39)	splice site	probably benign
R0631:Pla2g6	UTSW	15	79,190,596 (GRCm39)	missense	probably damaging	1.00
R1216:Pla2g6	UTSW	15	79,190,635 (GRCm39)	missense	probably benign	0.18
R1617:Pla2g6	UTSW	15	79,173,341 (GRCm39)	missense	probably benign	0.03
R1785:Pla2g6	UTSW	15	79,190,545 (GRCm39)	missense	probably benign	0.02
R2025:Pla2g6	UTSW	15	79,170,964 (GRCm39)	missense	probably damaging	1.00
R2079:Pla2g6	UTSW	15	79,197,194 (GRCm39)	missense	probably damaging	1.00
R3952:Pla2g6	UTSW	15	79,197,296 (GRCm39)	missense	probably damaging	1.00
R4774:Pla2g6	UTSW	15	79,171,818 (GRCm39)	missense	probably damaging	1.00
R4826:Pla2g6	UTSW	15	79,192,879 (GRCm39)	missense	possibly damaging	0.96
R5093:Pla2g6	UTSW	15	79,171,328 (GRCm39)	missense	probably benign	0.12
R5327:Pla2g6	UTSW	15	79,186,837 (GRCm39)	missense	probably benign	0.03
R5390:Pla2g6	UTSW	15	79,173,893 (GRCm39)	missense	possibly damaging	0.72
R5419:Pla2g6	UTSW	15	79,183,342 (GRCm39)	missense	possibly damaging	0.82
R5432:Pla2g6	UTSW	15	79,186,817 (GRCm39)	critical splice donor site	probably null
R5633:Pla2g6	UTSW	15	79,183,342 (GRCm39)	missense	possibly damaging	0.82
R5829:Pla2g6	UTSW	15	79,171,893 (GRCm39)	missense	possibly damaging	0.73
R5930:Pla2g6	UTSW	15	79,187,728 (GRCm39)	intron	probably benign
R6228:Pla2g6	UTSW	15	79,189,924 (GRCm39)	missense	probably benign	0.00
R6241:Pla2g6	UTSW	15	79,188,592 (GRCm39)	missense	probably benign	0.02
R6339:Pla2g6	UTSW	15	79,193,016 (GRCm39)	missense	probably damaging	0.99
R6485:Pla2g6	UTSW	15	79,191,572 (GRCm39)	missense	probably benign	0.00
R6754:Pla2g6	UTSW	15	79,190,510 (GRCm39)	missense	probably benign	0.01
R7419:Pla2g6	UTSW	15	79,189,898 (GRCm39)	splice site	probably null
R7425:Pla2g6	UTSW	15	79,192,933 (GRCm39)	missense	probably damaging	1.00
R7710:Pla2g6	UTSW	15	79,171,358 (GRCm39)	missense	probably damaging	0.98
R7738:Pla2g6	UTSW	15	79,181,633 (GRCm39)	nonsense	probably null
R7796:Pla2g6	UTSW	15	79,202,025 (GRCm39)	missense	probably benign	0.32
R8184:Pla2g6	UTSW	15	79,171,322 (GRCm39)	missense	probably benign	0.02
R8359:Pla2g6	UTSW	15	79,171,370 (GRCm39)	missense	probably damaging	0.98
R9105:Pla2g6	UTSW	15	79,183,397 (GRCm39)	critical splice acceptor site	probably null
R9280:Pla2g6	UTSW	15	79,197,314 (GRCm39)	missense	probably benign	0.09
R9471:Pla2g6	UTSW	15	79,202,039 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGAAAGGAGCCCCACTTTC -3'
(R):5'- AGGGACTTAGCATGGTATACTGG -3'

Sequencing Primer
(F):5'- ACTTTCTCCAGGAAGCTCCAG -3'
(R):5'- ATGGTATACTGGGGCCTGCAC -3'

Posted On

2019-11-26