Mutagenetix > Incidental Mutation

Incidental Mutation 'R6737:Pld5'

530214

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 176090022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 53 (N53I)

Ref Sequence

ENSEMBL: ENSMUSP00000106797 (fasta)

Gene Model

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

AlphaFold

Q3UNN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065967
AA Change: N115I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: N115I

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 damaging
Transcript: ENSMUST00000111167
AA Change: N53I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: N53I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156184

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,568	R114G	probably damaging	Het
8430408G22Rik	G	T	6: 116,652,097	V134L	possibly damaging	Het
Atm	A	T	9: 53,486,051	S1661T	probably benign	Het
Cd69	C	T	6: 129,268,299	A188T	probably benign	Het
Cecr2	G	T	6: 120,737,123	L225F	possibly damaging	Het
Cep295	A	G	9: 15,332,351	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,707,716		probably benign	Het
Clptm1	A	T	7: 19,637,076		probably null	Het
Crybg2	G	T	4: 134,072,690	G387V	probably damaging	Het
Ctcf	T	A	8: 105,664,508	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,834	S952*	probably null	Het
Cxcr2	T	C	1: 74,158,631	F95L	probably benign	Het
Ddx55	C	A	5: 124,552,945	T5K	probably damaging	Het
Eif2ak2	T	C	17: 78,863,948	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,462,268		probably null	Het
Epb41l2	C	G	10: 25,489,018		probably null	Het
Fam234b	A	G	6: 135,228,515	K493E	probably damaging	Het
Fndc7	C	A	3: 108,872,278	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,183,077	I7M	probably benign	Het
Gal3st1	T	A	11: 3,998,903	I370N	probably benign	Het
Gatsl3	A	G	11: 4,221,685	D303G	probably damaging	Het
Glo1	C	T	17: 30,597,840	S114N	probably benign	Het
Grik1	T	C	16: 88,051,391	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,110,492	C195R	probably damaging	Het
Hdac9	T	C	12: 34,215,452	N806S	probably damaging	Het
Igfn1	T	C	1: 135,969,867	N987S	probably benign	Het
Klhl29	G	T	12: 5,210,124	S31R	possibly damaging	Het
Lama4	C	T	10: 39,094,911	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,793,627	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,723,218	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,954	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,271,277	A474V	possibly damaging	Het
Msl1	A	G	11: 98,804,082	H134R	probably damaging	Het
Muc5b	T	C	7: 141,857,499	M1394T	unknown	Het
Myof	G	A	19: 37,943,514	T968I	probably benign	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Ncoa5	C	T	2: 165,002,135	G116D	probably damaging	Het
Ndst2	A	G	14: 20,727,494	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,083,969	V459E	probably damaging	Het
Nup133	A	T	8: 123,906,291	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,689,206	S829T	probably benign	Het
Olfr1317	T	C	2: 112,142,203	F86S	probably damaging	Het
Olfr201	A	G	16: 59,268,812	L285P	possibly damaging	Het
Olfr401	A	G	11: 74,121,906	S206G	probably benign	Het
Olfr628	C	T	7: 103,732,150	L75F	probably damaging	Het
Pcdh18	C	A	3: 49,755,895	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,322,670	L701H	probably damaging	Het
Plau	T	G	14: 20,837,816	Y43D	probably damaging	Het
Pon2	T	A	6: 5,266,183	I279F	probably benign	Het
Prep	A	T	10: 45,097,495	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,822,808	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,858,876		probably null	Het
Rnf19b	T	C	4: 129,085,551		probably benign	Het
Rpl9-ps6	A	C	19: 32,466,327	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,562,474	Y609C	probably damaging	Het
Skint5	T	C	4: 113,535,739	N1232S	unknown	Het
Slc28a1	T	G	7: 81,169,248	V615G	probably benign	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snx13	T	G	12: 35,140,186	N845K	probably damaging	Het
Srms	T	C	2: 181,209,460	Y171C	probably damaging	Het
Supt6	A	G	11: 78,231,818	L193P	probably damaging	Het
Syt7	G	A	19: 10,444,044	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,457,096		probably null	Het
Tnik	A	T	3: 28,596,086	K449N	possibly damaging	Het
Trim29	A	T	9: 43,319,384	D288V	probably benign	Het
Ttc13	T	A	8: 124,682,161		probably null	Het
Uchl3	A	T	14: 101,690,597	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,809	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,611	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,563,442	K88*	probably null	Het
Ylpm1	C	A	12: 85,030,846	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,785,046	K667E	probably 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
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
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
R9712:Pld5	UTSW	1	175964006	missense	probably benign	0.01
X0004:Pld5	UTSW	1	176261522	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAGGGTGTGGCTTACCTGAC -3'
(R):5'- AACACCTCAGGTTCGAGTATGG -3'

Sequencing Primer
(F):5'- TTACCTGACATGCAGCTGG -3'
(R):5'- CACCTCAGGTTCGAGTATGGAATATG -3'

Posted On

2018-08-01