Mutagenetix > Incidental Mutations

Incidental Mutation 'R0785:Pld5'

76803

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

038965-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 175975452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121428 (fasta)

Gene Model

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

AlphaFold

Q3UNN8

Predicted Effect

probably benign
Transcript: ENSMUST00000065967

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214

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 benign
Transcript: ENSMUST00000111167

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.1%
20x: 87.1%

Validation Efficiency

100% (36/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,959,334		probably benign	Het
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Adam10	A	G	9: 70,767,888	E593G	possibly damaging	Het
Adh6a	T	C	3: 138,329,068		probably benign	Het
AI464131	A	G	4: 41,497,539	V697A	probably benign	Het
Akap6	T	A	12: 52,886,622	I299N	probably benign	Het
Bod1l	A	T	5: 41,820,016	N1318K	probably benign	Het
Cd3eap	G	C	7: 19,357,285	S299C	probably benign	Het
Eif2b2	C	A	12: 85,221,561	T170K	probably damaging	Het
Ermard	T	A	17: 15,021,977	H138Q	probably damaging	Het
Ern2	A	T	7: 122,171,661		probably null	Het
Fkbp11	T	C	15: 98,726,549	K108R	probably damaging	Het
Gm6588	A	G	5: 112,450,568	D327G	probably benign	Het
Golgb1	A	G	16: 36,898,790	K353E	possibly damaging	Het
Hipk1	G	T	3: 103,754,325		probably null	Het
Itga4	A	G	2: 79,289,305	D485G	possibly damaging	Het
Krt2	C	A	15: 101,817,921	G61C	unknown	Het
Med12l	T	A	3: 59,260,832	L1561Q	probably damaging	Het
Mtmr14	T	C	6: 113,277,947		probably null	Het
Naip1	A	G	13: 100,423,076	M1140T	probably benign	Het
Naip1	C	T	13: 100,423,085	R1137Q	probably benign	Het
Nav2	T	A	7: 49,420,333	H251Q	probably benign	Het
Nphp4	A	G	4: 152,562,109	D1366G	possibly damaging	Het
Olfr1535	A	G	13: 21,555,788	V78A	probably benign	Het
Olfr790	A	G	10: 129,500,881		probably null	Het
Pde6c	A	C	19: 38,133,180	M79L	probably benign	Het
Rps6kc1	A	G	1: 190,808,945	V387A	probably damaging	Het
Tas2r136	T	C	6: 132,777,927	D79G	probably benign	Het
Tmem243	A	T	5: 9,118,488	K90I	probably damaging	Het
Topbp1	A	G	9: 103,315,090	H260R	probably damaging	Het
Trappc1	A	G	11: 69,324,810		probably benign	Het
Vmn2r125	C	A	4: 156,351,101	A258D	probably benign	Het
Zfp300	T	C	X: 21,082,925	Y200C	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
IGL00949:Pld5	APN	1	175975473	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
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

Predicted Primers

PCR Primer
(F):5'- GTCCGTGTTACAAATAAGGTCAGTAGGG -3'
(R):5'- CGGTTGCCACGATGCAGAATG -3'

Sequencing Primer
(F):5'- ggagagaccctgccttaaaac -3'
(R):5'- GCCTTGTAAAATTTCTTTCACGG -3'

Posted On

2013-10-16