Mutagenetix > Incidental Mutation

Incidental Mutation 'R7559:Pla2g12a'

584931

Institutional Source

Beutler Lab

Gene Symbol

Pla2g12a

Ensembl Gene

ENSMUSG00000027999

Gene Name

phospholipase A2, group XIIA

Synonyms

mGXII-1, GXII, Pla2g12, 2310004B05Rik, Rossy

MMRRC Submission

045653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129672255-129689474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129672569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 68 (Y68N)

Ref Sequence

ENSEMBL: ENSMUSP00000029629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029629] [ENSMUST00000061165] [ENSMUST00000077918]

AlphaFold

Q9EPR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029629
AA Change: Y68N

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

SMART Domains

Protein: ENSMUSP00000029629
Gene: ENSMUSG00000027999
AA Change: Y68N

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	14	192	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061165

SMART Domains

Protein: ENSMUSP00000053651
Gene: ENSMUSG00000027999

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	30	153	3.9e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077918

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FIMAC	45	111	4.63e-38	SMART
KAZAL	63	109	6.91e-3	SMART
SR	117	220	2.95e-22	SMART
LDLa	225	262	1.07e-4	SMART
LDLa	263	300	7.16e-6	SMART
low complexity region	317	326	N/A	INTRINSIC
Tryp_SPc	360	589	3.33e-71	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	A	5: 139,265,295 (GRCm39)	R206L	probably damaging	Het
Adcy3	A	G	12: 4,248,440 (GRCm39)	K501E	probably benign	Het
Agl	T	C	3: 116,545,764 (GRCm39)	D679G		Het
Ankrd10	A	T	8: 11,662,548 (GRCm39)	V395D	probably damaging	Het
Ano5	A	G	7: 51,224,636 (GRCm39)	I531V	probably damaging	Het
Apol9a	T	A	15: 77,288,761 (GRCm39)	H202L	possibly damaging	Het
Atp6v1c2	A	C	12: 17,351,215 (GRCm39)	I105M	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Coro1b	T	C	19: 4,200,220 (GRCm39)		probably null	Het
D930020B18Rik	A	G	10: 121,492,131 (GRCm39)		probably benign	Het
Dcst2	T	C	3: 89,276,021 (GRCm39)	F384S	possibly damaging	Het
Ddx39a	T	A	8: 84,447,595 (GRCm39)	F147I	possibly damaging	Het
Drosha	A	G	15: 12,842,508 (GRCm39)	E393G	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fam20c	G	T	5: 138,778,954 (GRCm39)	E287D	possibly damaging	Het
Flnc	T	A	6: 29,459,009 (GRCm39)	D2463E	probably damaging	Het
Flt4	A	T	11: 49,535,198 (GRCm39)	I1209F	possibly damaging	Het
Foxp1	T	C	6: 98,922,521 (GRCm39)	D437G	unknown	Het
Fras1	T	C	5: 96,888,713 (GRCm39)	V2753A	possibly damaging	Het
Ftsj3	T	C	11: 106,143,813 (GRCm39)	D277G	possibly damaging	Het
Gad1	T	C	2: 70,394,256 (GRCm39)		probably null	Het
Gal3st2c	A	G	1: 93,937,075 (GRCm39)	Y340C	probably damaging	Het
Gbp9	A	G	5: 105,232,975 (GRCm39)	F226L	probably damaging	Het
Gm11992	C	T	11: 9,002,747 (GRCm39)	P37S	possibly damaging	Het
Gm19668	G	T	10: 77,634,572 (GRCm39)	C132*	probably null	Het
Hdac3	A	T	18: 38,078,569 (GRCm39)	F139I	possibly damaging	Het
Hectd4	A	G	5: 121,453,573 (GRCm39)		probably null	Het
Helz	T	A	11: 107,491,104 (GRCm39)	S162T	possibly damaging	Het
Hspb6	C	A	7: 30,253,712 (GRCm39)	S75Y	probably damaging	Het
Il17rb	T	A	14: 29,719,000 (GRCm39)	I361F	probably damaging	Het
Iqsec3	A	T	6: 121,364,739 (GRCm39)	V850D	probably damaging	Het
Knl1	A	G	2: 118,924,487 (GRCm39)	E1840G	possibly damaging	Het
Lamc3	A	G	2: 31,812,380 (GRCm39)	K939R	probably benign	Het
Lmo7	C	T	14: 102,124,662 (GRCm39)	R496*	probably null	Het
Lsm14a	A	T	7: 34,052,826 (GRCm39)	C374*	probably null	Het
Luc7l	T	C	17: 26,474,089 (GRCm39)	L49P	probably damaging	Het
Mdga2	A	C	12: 66,520,003 (GRCm39)	C988G	probably damaging	Het
Mtf1	T	C	4: 124,713,999 (GRCm39)	V136A	probably damaging	Het
Myo7b	T	A	18: 32,116,413 (GRCm39)	I1016F	probably benign	Het
Nadsyn1	C	A	7: 143,361,804 (GRCm39)	A306S	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Opcml	A	T	9: 28,814,620 (GRCm39)	T291S	probably benign	Het
Or13a24	T	A	7: 140,154,356 (GRCm39)	C97S	probably damaging	Het
Or52u1	C	A	7: 104,237,087 (GRCm39)	H25Q	probably damaging	Het
Or56b1b	C	T	7: 108,164,763 (GRCm39)	A80T	probably damaging	Het
Osbp2	C	G	11: 3,662,493 (GRCm39)	K196N	probably damaging	Het
Otoa	T	C	7: 120,743,149 (GRCm39)	V792A	probably damaging	Het
Pcmtd1	A	G	1: 7,239,766 (GRCm39)	D245G	probably damaging	Het
Pcnx1	T	C	12: 82,039,896 (GRCm39)	V1428A	unknown	Het
Pik3r4	A	G	9: 105,555,352 (GRCm39)	H1103R	probably benign	Het
Pjvk	C	T	2: 76,486,154 (GRCm39)	H185Y	probably benign	Het
Pkd1l3	T	C	8: 110,351,072 (GRCm39)	V639A	probably benign	Het
Pklr	T	C	3: 89,050,365 (GRCm39)	S405P	probably damaging	Het
Proz	A	G	8: 13,113,455 (GRCm39)	H92R	probably benign	Het
Sec23ip	G	T	7: 128,379,074 (GRCm39)	V844F	possibly damaging	Het
Sema3f	A	G	9: 107,561,777 (GRCm39)	V520A	possibly damaging	Het
Serpinb12	A	G	1: 106,881,453 (GRCm39)	I197V	probably damaging	Het
Sim2	A	T	16: 93,910,218 (GRCm39)	I207F	possibly damaging	Het
Slc15a2	C	T	16: 36,572,259 (GRCm39)	V702I	probably benign	Het
Slc35f4	T	C	14: 49,541,732 (GRCm39)	I341V	probably benign	Het
Spam1	A	G	6: 24,800,452 (GRCm39)	Y397C	probably damaging	Het
Spire1	A	T	18: 67,634,187 (GRCm39)	M417K	probably benign	Het
Srcap	T	C	7: 127,129,722 (GRCm39)	S515P	unknown	Het
Tfrc	T	A	16: 32,440,235 (GRCm39)		probably null	Het
Topors	A	G	4: 40,261,401 (GRCm39)	S628P	unknown	Het
Trim71	T	C	9: 114,342,110 (GRCm39)	Y724C	probably damaging	Het
Ttn	C	T	2: 76,623,199 (GRCm39)	V15413I	probably damaging	Het
Vmn1r21	A	T	6: 57,821,227 (GRCm39)	N72K	probably damaging	Het
Vmn2r80	A	T	10: 79,030,459 (GRCm39)	M762L	probably benign	Het
Wdr62	A	G	7: 29,970,198 (GRCm39)	I203T	probably damaging	Het

Other mutations in Pla2g12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0398:Pla2g12a	UTSW	3	129,684,045 (GRCm39)	missense	probably benign	0.00
R0689:Pla2g12a	UTSW	3	129,674,947 (GRCm39)	critical splice donor site	probably null
R1529:Pla2g12a	UTSW	3	129,672,534 (GRCm39)	missense	probably damaging	1.00
R1729:Pla2g12a	UTSW	3	129,688,589 (GRCm39)	missense	probably benign	0.02
R4925:Pla2g12a	UTSW	3	129,672,467 (GRCm39)	missense	probably damaging	1.00
R5715:Pla2g12a	UTSW	3	129,688,591 (GRCm39)	missense	probably damaging	1.00
R6512:Pla2g12a	UTSW	3	129,682,606 (GRCm39)	missense	probably benign	0.00
R8337:Pla2g12a	UTSW	3	129,672,465 (GRCm39)	missense	probably damaging	1.00
R9261:Pla2g12a	UTSW	3	129,684,080 (GRCm39)	missense	possibly damaging	0.87
R9603:Pla2g12a	UTSW	3	129,674,900 (GRCm39)	missense	unknown
Z1088:Pla2g12a	UTSW	3	129,684,029 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCAATGAGGCTCCCACGC -3'
(R):5'- TACCTGTTCCACACTCCACA -3'

Sequencing Primer
(F):5'- AGATGGTGACTCCGCGG -3'
(R):5'- ACACACATCCCCCTGCCTG -3'

Posted On

2019-10-17