Mutagenetix > Incidental Mutation

Incidental Mutation 'R2937:Plaa'

255045

Institutional Source

Beutler Lab

Gene Symbol

Plaa

Ensembl Gene

ENSMUSG00000028577

Gene Name

phospholipase A2, activating protein

Synonyms

Ufd3, D4Ertd618e

MMRRC Submission

040514-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94455751-94491481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94457696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 758 (A758V)

Ref Sequence

ENSEMBL: ENSMUSP00000102724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107107]

AlphaFold

P27612

Predicted Effect

probably damaging
Transcript: ENSMUST00000107107
AA Change: A758V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102724
Gene: ENSMUSG00000028577
AA Change: A758V

Domain	Start	End	E-Value	Type
WD40	7	47	4.46e-1	SMART
WD40	54	98	8.49e-3	SMART
WD40	101	139	1.72e-3	SMART
WD40	140	179	8.81e-10	SMART
WD40	180	218	3.22e-3	SMART
WD40	220	259	7.33e-7	SMART
WD40	260	298	6.79e-2	SMART
Pfam:PFU	345	459	2.3e-43	PFAM
Pfam:PUL	535	789	1.4e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127656

SMART Domains

Protein: ENSMUSP00000116530
Gene: ENSMUSG00000028577

Domain	Start	End	E-Value	Type
Pfam:PFU	1	89	2.6e-34	PFAM
Pfam:PUL	142	214	7.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135696

Meta Mutation Damage Score

0.4118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

MGI Phenotype

PHENOTYPE: Homozygous KO is embryonic lethal. A hypomorphic homozygous point mutation affects neuromuscular junctions and Purkinje cell development, causing early-onset neurodysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,258,350 (GRCm39)	E481G	probably damaging	Het
Anks1b	C	T	10: 89,912,928 (GRCm39)	T351M	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314 (GRCm39)		probably benign	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Cfap91	A	T	16: 38,131,400 (GRCm39)	I471N	possibly damaging	Het
Clca3a2	T	A	3: 144,519,679 (GRCm39)	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,702,685 (GRCm39)	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,896,476 (GRCm39)		probably null	Het
Dsg2	T	C	18: 20,712,185 (GRCm39)	F107S	probably damaging	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fermt2	A	C	14: 45,741,948 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,239,755 (GRCm39)		probably benign	Het
Hecw1	G	T	13: 14,420,421 (GRCm39)	Q1001K	possibly damaging	Het
Hydin	T	C	8: 111,130,927 (GRCm39)	V606A	possibly damaging	Het
Krt33b	T	A	11: 99,914,835 (GRCm39)	N388I	probably benign	Het
Lipf	T	C	19: 33,950,438 (GRCm39)	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Med17	T	C	9: 15,187,187 (GRCm39)	K196E	probably damaging	Het
Mmp25	T	A	17: 23,863,765 (GRCm39)	I22F	probably benign	Het
Nrg3	T	A	14: 38,092,965 (GRCm39)	N540I	possibly damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Or52ad1	T	C	7: 102,995,272 (GRCm39)	M288V	probably benign	Het
Or52r1c	T	A	7: 102,735,548 (GRCm39)	H269Q	probably benign	Het
Pcdh1	G	T	18: 38,322,815 (GRCm39)	A1006E	probably benign	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Prl6a1	T	A	13: 27,499,303 (GRCm39)	W24R	probably damaging	Het
Ptk7	T	C	17: 46,883,476 (GRCm39)	H863R	probably damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Rhou	T	C	8: 124,387,880 (GRCm39)	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,154,972 (GRCm39)	M266I	probably benign	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Slc2a2	T	G	3: 28,772,920 (GRCm39)	C238G	probably damaging	Het
Slc39a8	A	G	3: 135,592,584 (GRCm39)	M420V	probably benign	Het
Slc7a9	C	A	7: 35,163,167 (GRCm39)	Y457*	probably null	Het
Smpd3	C	T	8: 106,991,452 (GRCm39)	R367H	probably damaging	Het
Sntb2	T	C	8: 107,662,729 (GRCm39)	V99A	probably benign	Het
Specc1l	T	G	10: 75,094,965 (GRCm39)	I796R	probably damaging	Het
Stfa2l1	G	T	16: 35,980,316 (GRCm39)	V29F	probably damaging	Het
Synrg	T	C	11: 83,885,180 (GRCm39)	F455S	probably damaging	Het
Tap2	T	C	17: 34,431,328 (GRCm39)	V422A	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tcp10a	A	G	17: 7,597,173 (GRCm39)	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255 (GRCm39)	S43R	probably damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Trpc3	G	A	3: 36,688,532 (GRCm39)	R836*	probably null	Het
Tsbp1	A	T	17: 34,640,836 (GRCm39)	H57L	possibly damaging	Het
Ube2u	T	C	4: 100,381,495 (GRCm39)	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846 (GRCm39)	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdfy3	A	T	5: 102,091,988 (GRCm39)	F450L	probably benign	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Xylt1	C	A	7: 117,234,011 (GRCm39)	Q513K	probably benign	Het
Zfp229	T	C	17: 21,964,484 (GRCm39)	F238S	probably damaging	Het

Other mutations in Plaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Plaa	APN	4	94,470,844 (GRCm39)	missense	probably benign	0.00
IGL01089:Plaa	APN	4	94,462,284 (GRCm39)	missense	probably benign
IGL01695:Plaa	APN	4	94,462,274 (GRCm39)	nonsense	probably null
IGL01984:Plaa	APN	4	94,459,922 (GRCm39)	splice site	probably null
IGL02430:Plaa	APN	4	94,470,810 (GRCm39)	missense	probably benign	0.09
IGL02552:Plaa	APN	4	94,470,717 (GRCm39)	critical splice donor site	probably null
IGL03238:Plaa	APN	4	94,472,133 (GRCm39)	missense	probably benign	0.23
R1353:Plaa	UTSW	4	94,459,926 (GRCm39)	missense	possibly damaging	0.69
R3076:Plaa	UTSW	4	94,458,042 (GRCm39)	missense	probably benign
R3078:Plaa	UTSW	4	94,458,042 (GRCm39)	missense	probably benign
R3801:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3802:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3804:Plaa	UTSW	4	94,458,125 (GRCm39)	missense	probably damaging	1.00
R3836:Plaa	UTSW	4	94,475,159 (GRCm39)	critical splice acceptor site	probably null
R4767:Plaa	UTSW	4	94,474,495 (GRCm39)	unclassified	probably benign
R4855:Plaa	UTSW	4	94,474,645 (GRCm39)	missense	probably damaging	1.00
R4978:Plaa	UTSW	4	94,478,169 (GRCm39)	missense	possibly damaging	0.81
R5284:Plaa	UTSW	4	94,457,874 (GRCm39)	missense	probably benign	0.03
R5557:Plaa	UTSW	4	94,472,244 (GRCm39)	splice site	probably null
R5834:Plaa	UTSW	4	94,471,706 (GRCm39)	missense	probably damaging	1.00
R5856:Plaa	UTSW	4	94,471,724 (GRCm39)	missense	probably benign	0.00
R6053:Plaa	UTSW	4	94,478,121 (GRCm39)	missense	probably benign	0.00
R6145:Plaa	UTSW	4	94,472,229 (GRCm39)	missense	probably damaging	0.99
R6646:Plaa	UTSW	4	94,478,215 (GRCm39)	missense	probably benign
R7008:Plaa	UTSW	4	94,457,586 (GRCm39)	makesense	probably null
R7058:Plaa	UTSW	4	94,458,060 (GRCm39)	nonsense	probably null
R7078:Plaa	UTSW	4	94,462,288 (GRCm39)	missense	probably benign
R7120:Plaa	UTSW	4	94,470,919 (GRCm39)	missense	possibly damaging	0.91
R7651:Plaa	UTSW	4	94,470,876 (GRCm39)	missense	probably damaging	1.00
R8163:Plaa	UTSW	4	94,457,640 (GRCm39)	missense	probably benign	0.01
R8188:Plaa	UTSW	4	94,474,586 (GRCm39)	missense	probably damaging	1.00
R8354:Plaa	UTSW	4	94,457,714 (GRCm39)	missense	probably damaging	1.00
R8454:Plaa	UTSW	4	94,457,714 (GRCm39)	missense	probably damaging	1.00
R8838:Plaa	UTSW	4	94,471,791 (GRCm39)	missense	probably benign	0.37
R9457:Plaa	UTSW	4	94,475,120 (GRCm39)	missense	possibly damaging	0.65
R9730:Plaa	UTSW	4	94,466,660 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCAATCAGTCATGTAAAATGTGG -3'
(R):5'- GAGTCACTGATGTCACATGCAATAG -3'

Sequencing Primer
(F):5'- AAAACCCCTCAGCGTCTT -3'
(R):5'- CACTGATGTCACATGCAATAGAACTG -3'

Posted On

2014-12-29