Mutagenetix > Incidental Mutation

Incidental Mutation 'R1437:Plaat1'

161330

Institutional Source

Beutler Lab

Gene Symbol

Plaat1

Ensembl Gene

ENSMUSG00000022525

Gene Name

phospholipase A and acyltransferase 1

Synonyms

2810012B06Rik, A-C1, Hrasls

MMRRC Submission

039492-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29028447-29049283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29046922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 147 (A147E)

Ref Sequence

ENSEMBL: ENSMUSP00000123809 (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

probably benign
Transcript: ENSMUST00000089824
AA Change: A147E

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087257
Gene: ENSMUSG00000022525
AA Change: A147E

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: A147E

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123809
Gene: ENSMUSG00000022525
AA Change: A147E

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,871,436 (GRCm39)	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,838,497 (GRCm39)	S1022P	probably damaging	Het
Abcc8	A	G	7: 45,829,237 (GRCm39)	I46T	probably damaging	Het
Add3	A	G	19: 53,222,109 (GRCm39)	R275G	probably damaging	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Arhgef4	A	G	1: 34,763,026 (GRCm39)	T761A	unknown	Het
Asap1	A	T	15: 63,991,956 (GRCm39)	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,300,646 (GRCm39)	P741H	probably damaging	Het
Atxn10	T	C	15: 85,243,675 (GRCm39)	I46T	possibly damaging	Het
BC049715	C	A	6: 136,817,090 (GRCm39)	A110E	probably damaging	Het
Bltp1	C	A	3: 36,996,578 (GRCm39)	H1097N	possibly damaging	Het
Btbd7	T	A	12: 102,754,349 (GRCm39)	T806S	possibly damaging	Het
Cdk4	C	A	10: 126,900,558 (GRCm39)	P108H	probably damaging	Het
Cep290	A	G	10: 100,407,963 (GRCm39)	T2391A	probably benign	Het
Col6a3	G	T	1: 90,729,098 (GRCm39)	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,654 (GRCm39)	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,493,428 (GRCm39)	Q356K	probably benign	Het
Ddx21	A	G	10: 62,434,369 (GRCm39)	M130T	unknown	Het
Epha5	T	G	5: 84,381,555 (GRCm39)	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,662,571 (GRCm39)		probably benign	Het
Fads2	A	T	19: 10,069,193 (GRCm39)	L77Q	probably benign	Het
Fbn2	A	T	18: 58,186,731 (GRCm39)	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 140,895,165 (GRCm39)	H43Y	probably benign	Het
Fry	A	G	5: 150,233,890 (GRCm39)	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,808,904 (GRCm39)	S209A	probably damaging	Het
Hey2	T	C	10: 30,709,845 (GRCm39)	T303A	probably benign	Het
Hivep1	T	A	13: 42,310,616 (GRCm39)	M952K	probably benign	Het
Hydin	C	T	8: 111,308,617 (GRCm39)	Q3968*	probably null	Het
Jup	T	C	11: 100,274,402 (GRCm39)	E96G	probably benign	Het
Kcnn1	A	G	8: 71,297,195 (GRCm39)	I504T	probably benign	Het
Klk1b9	T	C	7: 43,629,114 (GRCm39)	V174A	probably damaging	Het
Lama3	G	C	18: 12,682,284 (GRCm39)	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lrfn2	T	C	17: 49,378,253 (GRCm39)	S445P	probably damaging	Het
Lrp3	C	A	7: 34,912,595 (GRCm39)	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,629,568 (GRCm39)	L638P	probably damaging	Het
Mief2	C	T	11: 60,621,769 (GRCm39)	T113M	probably benign	Het
Mrps2	T	C	2: 28,358,899 (GRCm39)	F76S	probably damaging	Het
Naca	A	G	10: 127,878,048 (GRCm39)		probably benign	Het
Ndst4	C	A	3: 125,355,099 (GRCm39)	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,044,710 (GRCm39)		probably null	Het
Nr5a1	T	A	2: 38,600,685 (GRCm39)	T29S	probably benign	Het
Or5ak23	T	C	2: 85,245,218 (GRCm39)	I2V	probably benign	Het
Or5as1	C	T	2: 86,980,115 (GRCm39)	V297M	possibly damaging	Het
Pald1	A	G	10: 61,177,064 (GRCm39)	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,897,674 (GRCm39)	A59S	probably damaging	Het
Pde4a	T	C	9: 21,103,888 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,814,106 (GRCm39)	S4159T	probably damaging	Het
Plch1	C	A	3: 63,604,954 (GRCm39)	R1641L	probably benign	Het
Plec	G	T	15: 76,073,481 (GRCm39)	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,509,826 (GRCm39)	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,719,399 (GRCm39)	V504A	probably damaging	Het
Prepl	G	A	17: 85,395,785 (GRCm39)	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,167,396 (GRCm39)	K226E	probably damaging	Het
Ror1	T	A	4: 100,269,306 (GRCm39)	F381L	probably benign	Het
Sbsn	C	T	7: 30,452,478 (GRCm39)	Q498*	probably null	Het
Scgb2b19	T	C	7: 32,977,980 (GRCm39)	I106V	probably benign	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,841,475 (GRCm39)	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,706,389 (GRCm39)	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006 (GRCm39)	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Stt3b	T	A	9: 115,083,995 (GRCm39)	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,148,890 (GRCm39)	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,510,185 (GRCm39)	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852 (GRCm39)	Q97*	probably null	Het
Vsig10	A	G	5: 117,489,635 (GRCm39)	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,708,477 (GRCm39)	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,811,983 (GRCm39)		probably null	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
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
R4450:Plaat1	UTSW	16	29,046,976 (GRCm39)	missense	possibly damaging	0.79
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'- AGACTATGATGATCCACCAGGACCC -3'
(R):5'- TCAAGCTGCCACGGCAAATCTC -3'

Sequencing Primer
(F):5'- GGACCCATGTCCATCATGAG -3'
(R):5'- ACGGCAAATCTCTGCTAGTTG -3'

Posted On

2014-03-14