Mutagenetix > Incidental Mutation

Incidental Mutation 'R4450:Plaat1'

328945

Institutional Source

Beutler Lab

Gene Symbol

Plaat1

Ensembl Gene

ENSMUSG00000022525

Gene Name

phospholipase A and acyltransferase 1

Synonyms

2810012B06Rik, A-C1, Hrasls

MMRRC Submission

041711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29028447-29049283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29046976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 165 (T165M)

Ref Sequence

ENSEMBL: ENSMUSP00000087257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000089824] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000162747]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075806

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	4.1e-31	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	228	475	1.5e-35	PFAM
Pfam:Hydrolase	480	759	2.7e-11	PFAM
Pfam:HAD	483	857	1.1e-28	PFAM
Pfam:Cation_ATPase	564	638	1.3e-6	PFAM
transmembrane domain	901	923	N/A	INTRINSIC
transmembrane domain	933	950	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
transmembrane domain	1042	1061	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1129	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089824
AA Change: T165M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087257
Gene: ENSMUSG00000022525
AA Change: T165M

Domain	Start	End	E-Value	Type
Pfam:LRAT	8	132	6.1e-44	PFAM
transmembrane domain	140	159	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142681

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	7.5e-25	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	229	475	1e-36	PFAM
Pfam:Hydrolase	480	860	5.9e-16	PFAM
Pfam:HAD	483	857	4e-27	PFAM
Pfam:Hydrolase_like2	565	638	3.7e-8	PFAM
transmembrane domain	901	923	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143373

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	1e-24	PFAM
Pfam:E1-E2_ATPase	196	430	3.2e-34	PFAM
Pfam:Hydrolase	435	815	9.1e-16	PFAM
Pfam:HAD	438	812	6.2e-27	PFAM
Pfam:Hydrolase_like2	520	593	4.8e-8	PFAM
transmembrane domain	856	878	N/A	INTRINSIC
transmembrane domain	888	905	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
transmembrane domain	997	1016	N/A	INTRINSIC
transmembrane domain	1025	1047	N/A	INTRINSIC
transmembrane domain	1062	1084	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160794

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162747
AA Change: T165M

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123809
Gene: ENSMUSG00000022525
AA Change: T165M

Domain	Start	End	E-Value	Type
Pfam:LRAT	13	132	7.5e-41	PFAM
transmembrane domain	140	159	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
Acsl6	A	G	11: 54,219,229 (GRCm39)	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,810,568 (GRCm39)	R196Q	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Angel1	A	T	12: 86,768,698 (GRCm39)	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,487,097 (GRCm39)	E272G	probably damaging	Het
Bpifb6	A	G	2: 153,748,688 (GRCm39)	E228G	possibly damaging	Het
Brca2	T	G	5: 150,459,518 (GRCm39)	D264E	probably damaging	Het
Cdca4	T	C	12: 112,785,278 (GRCm39)	N150S	probably benign	Het
Cep162	T	C	9: 87,107,861 (GRCm39)	S510G	probably damaging	Het
Cldn12	T	C	5: 5,558,398 (GRCm39)	T10A	probably damaging	Het
Clip2	C	T	5: 134,531,807 (GRCm39)	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,361,116 (GRCm39)	T625S	probably damaging	Het
Col6a5	C	T	9: 105,781,720 (GRCm39)	G1635D	unknown	Het
Dcp1b	A	G	6: 119,183,437 (GRCm39)	T175A	probably benign	Het
Eln	C	T	5: 134,754,635 (GRCm39)		probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm9894	T	A	13: 67,913,199 (GRCm39)		noncoding transcript	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Klhl42	G	A	6: 146,993,169 (GRCm39)	G47D	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,012,032 (GRCm39)	K154*	probably null	Het
Map4k3	C	T	17: 80,911,411 (GRCm39)		probably null	Het
Mlc1	A	G	15: 88,847,693 (GRCm39)	F285S	probably benign	Het
Myo5a	T	A	9: 75,074,458 (GRCm39)	M789K	probably benign	Het
Nbeal1	T	A	1: 60,306,933 (GRCm39)	S319T	probably damaging	Het
Nsun4	A	T	4: 115,908,453 (GRCm39)	Y702*	probably null	Het
Or8b52	A	T	9: 38,577,050 (GRCm39)	V30E	probably benign	Het
Or8g34	G	A	9: 39,373,328 (GRCm39)	M200I	probably benign	Het
Osbpl5	T	A	7: 143,248,643 (GRCm39)	T640S	probably benign	Het
Rangrf	A	T	11: 68,866,010 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,404,786 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,954,038 (GRCm39)	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,424,694 (GRCm39)		probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Syt6	A	G	3: 103,492,961 (GRCm39)	H156R	probably benign	Het
Tln2	C	T	9: 67,251,347 (GRCm39)		probably null	Het
Trim58	T	C	11: 58,542,191 (GRCm39)	W384R	probably benign	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	Het

Other mutations in Plaat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0487:Plaat1	UTSW	16	29,039,331 (GRCm39)	splice site	probably null
R1437:Plaat1	UTSW	16	29,046,922 (GRCm39)	missense	possibly damaging	0.78
R1707:Plaat1	UTSW	16	29,046,978 (GRCm39)	missense	probably damaging	0.96
R1858:Plaat1	UTSW	16	29,036,470 (GRCm39)	missense	probably damaging	1.00
R4996:Plaat1	UTSW	16	29,036,456 (GRCm39)	nonsense	probably null
R5617:Plaat1	UTSW	16	29,039,162 (GRCm39)	nonsense	probably null
R5872:Plaat1	UTSW	16	29,039,189 (GRCm39)	missense	probably benign	0.27
R6157:Plaat1	UTSW	16	29,036,501 (GRCm39)	missense	possibly damaging	0.70
R7502:Plaat1	UTSW	16	29,046,919 (GRCm39)	missense	probably benign	0.00
R8237:Plaat1	UTSW	16	29,039,106 (GRCm39)	missense	probably benign
R8804:Plaat1	UTSW	16	29,039,205 (GRCm39)	missense	probably benign	0.40
R8916:Plaat1	UTSW	16	29,039,259 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TTAATGGAGCAAACCAAAGCTG -3'
(R):5'- TTTTGTTCAAGCTGCCACG -3'

Sequencing Primer
(F):5'- CTGCAAGTCAAAACTGCCATCTTTAG -3'
(R):5'- CACGGCAAATCTCTGCTAGTTGG -3'

Posted On

2015-07-21