Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00949:Pld5'

26685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00949

Quality Score

Status

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 175975473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 409 (C409S)

Ref Sequence

ENSEMBL: ENSMUSP00000069326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065967] [ENSMUST00000104983] [ENSMUST00000111167] [ENSMUST00000125404]

AlphaFold

Q3UNN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065967
AA Change: C409S

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

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: C409S

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
PLDc	215	242	3.62e-3	SMART
Pfam:PLDc_3	245	421	2e-101	PFAM
PLDc	434	460	6.11e0	SMART
low complexity region	511	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000104983

SMART Domains

Protein: ENSMUSP00000100599
Gene: ENSMUSG00000078184

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
RRM	74	147	8.44e-22	SMART
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111167
AA Change: C347S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: C347S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PLDc	153	180	3.62e-3	SMART
PLDc	372	398	6.11e0	SMART
low complexity region	449	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125404

SMART Domains

Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	A	G	X: 142,343,329	C303R	probably damaging	Het
Als2	C	T	1: 59,215,572	G209S	probably damaging	Het
Ankrd11	T	C	8: 122,908,728	T56A	possibly damaging	Het
Arnt	T	A	3: 95,487,268	I381N	probably damaging	Het
Atp13a1	T	C	8: 69,800,003		probably benign	Het
Cd180	A	T	13: 102,693,760	T21S	possibly damaging	Het
Cdc27	T	C	11: 104,529,403	Y138C	probably damaging	Het
Dhx16	A	G	17: 35,887,934	T753A	probably benign	Het
Dnah1	A	G	14: 31,307,090	M561T	probably benign	Het
Dsc3	C	A	18: 19,985,631	G259C	probably null	Het
Enox2	A	T	X: 49,040,607	D346E	probably benign	Het
Exoc3l	T	C	8: 105,290,498	E619G	probably benign	Het
Exosc9	T	C	3: 36,563,266		probably benign	Het
Gmpr2	C	T	14: 55,676,750		probably benign	Het
Golga1	T	C	2: 39,041,255	E289G	probably damaging	Het
Hist1h3a	G	A	13: 23,762,031	T108I	probably damaging	Het
Jmy	A	G	13: 93,454,002	V531A	probably damaging	Het
Lamp2	T	C	X: 38,435,473	N156S	probably benign	Het
Lrrn1	C	A	6: 107,569,300	N686K	probably benign	Het
Lyst	T	C	13: 13,635,485	V580A	possibly damaging	Het
Ms4a8a	C	A	19: 11,079,444	L91F	probably benign	Het
Naip2	A	G	13: 100,161,591	F646L	probably damaging	Het
Npat	T	C	9: 53,563,362	V818A	probably benign	Het
Olfr1362	A	T	13: 21,611,351	I206N	probably damaging	Het
Padi3	C	A	4: 140,788,943	R542L	possibly damaging	Het
Pid1	A	G	1: 84,038,506	V46A	probably damaging	Het
Plet1	A	G	9: 50,499,223	T105A	possibly damaging	Het
Polrmt	T	C	10: 79,737,597		probably null	Het
Pp2d1	T	C	17: 53,515,639	N133S	probably benign	Het
Prpf40b	G	T	15: 99,306,538	V228L	probably benign	Het
Ptgfrn	A	T	3: 101,072,845	M393K	probably benign	Het
Slc9a1	C	T	4: 133,416,451	T416I	probably benign	Het
Slc9c1	T	C	16: 45,593,358	S950P	probably benign	Het
Slitrk1	A	T	14: 108,911,809	V490D	probably damaging	Het
Th	T	C	7: 142,897,026	Y131C	probably benign	Het
Tlr6	A	G	5: 64,953,512	L684P	probably damaging	Het
Tpm3	A	G	3: 90,089,858	E234G	probably damaging	Het
Tti1	A	G	2: 157,982,399	Y1045H	probably benign	Het
Txnl4b	T	A	8: 109,569,075	V37D	probably benign	Het
Ufl1	A	T	4: 25,275,822	F194I	probably damaging	Het
Usp13	G	A	3: 32,886,577	E412K	possibly damaging	Het
Usp46	A	T	5: 74,003,242	L251Q	possibly damaging	Het

Other mutations in Pld5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Pld5	APN	1	176140019	missense	probably damaging	1.00
IGL01067:Pld5	APN	1	176274879	utr 5 prime	probably benign
IGL02174:Pld5	APN	1	176274744	missense	possibly damaging	0.86
IGL02380:Pld5	APN	1	176140044	missense	probably damaging	0.97
IGL02879:Pld5	APN	1	175970591	missense	probably damaging	1.00
R0087:Pld5	UTSW	1	175984459	missense	probably damaging	0.98
R0135:Pld5	UTSW	1	175970589	missense	probably damaging	1.00
R0144:Pld5	UTSW	1	175970541	missense	probably benign	0.00
R0362:Pld5	UTSW	1	175975580	nonsense	probably null
R0453:Pld5	UTSW	1	176089956	missense	possibly damaging	0.75
R0454:Pld5	UTSW	1	176274729	missense	probably benign	0.00
R0722:Pld5	UTSW	1	175975515	missense	probably benign	0.34
R0751:Pld5	UTSW	1	176044896	missense	probably damaging	0.98
R0785:Pld5	UTSW	1	175975452	splice site	probably benign
R1184:Pld5	UTSW	1	176044896	missense	probably damaging	0.98
R1501:Pld5	UTSW	1	175975521	missense	probably benign	0.36
R1644:Pld5	UTSW	1	175975626	missense	possibly damaging	0.86
R2012:Pld5	UTSW	1	175964013	missense	probably benign	0.27
R2426:Pld5	UTSW	1	175963976	missense	probably benign
R3508:Pld5	UTSW	1	175994037	missense	probably damaging	1.00
R3917:Pld5	UTSW	1	175963938	missense	probably benign	0.00
R4207:Pld5	UTSW	1	175993875	missense	probably damaging	1.00
R4373:Pld5	UTSW	1	176140017	missense	probably damaging	1.00
R4828:Pld5	UTSW	1	176274867	missense	probably benign	0.06
R4831:Pld5	UTSW	1	176274884	utr 5 prime	probably benign
R5861:Pld5	UTSW	1	176090005	missense	probably damaging	1.00
R6182:Pld5	UTSW	1	176044854	missense	probably benign	0.35
R6191:Pld5	UTSW	1	175970534	missense	probably benign	0.04
R6246:Pld5	UTSW	1	175963909	nonsense	probably null
R6737:Pld5	UTSW	1	176090022	missense	probably damaging	1.00
R7082:Pld5	UTSW	1	176089876	missense	probably benign	0.21
R7164:Pld5	UTSW	1	176213621	start codon destroyed	probably null	0.00
R7237:Pld5	UTSW	1	176274735	missense	possibly damaging	0.79
R7635:Pld5	UTSW	1	175993850	critical splice donor site	probably null
R7805:Pld5	UTSW	1	176044914	missense	probably damaging	1.00
R7967:Pld5	UTSW	1	176274698	missense	probably benign	0.03
R8038:Pld5	UTSW	1	176044897	missense	probably benign	0.19
R8995:Pld5	UTSW	1	175964014	missense	probably benign	0.01
R9033:Pld5	UTSW	1	176140019	missense	probably damaging	0.99
R9067:Pld5	UTSW	1	176089908	missense	probably benign	0.00
R9156:Pld5	UTSW	1	175975538	missense	possibly damaging	0.73
R9156:Pld5	UTSW	1	176074437	missense	probably benign	0.05
X0004:Pld5	UTSW	1	176261522	critical splice acceptor site	probably null

Posted On

2013-04-17