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

044855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175789872-176102878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 175917588 bp (GRCm39)

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: 88,504,456 (GRCm39)	R114G	probably damaging	Het
Atm	A	T	9: 53,397,351 (GRCm39)	S1661T	probably benign	Het
Castor1	A	G	11: 4,171,685 (GRCm39)	D303G	probably damaging	Het
Cd69	C	T	6: 129,245,262 (GRCm39)	A188T	probably benign	Het
Cecr2	G	T	6: 120,714,084 (GRCm39)	L225F	possibly damaging	Het
Cep295	A	G	9: 15,243,647 (GRCm39)	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,757,716 (GRCm39)		probably benign	Het
Clptm1	A	T	7: 19,371,001 (GRCm39)		probably null	Het
Crybg2	G	T	4: 133,800,001 (GRCm39)	G387V	probably damaging	Het
Ctcf	T	A	8: 106,391,140 (GRCm39)	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,980 (GRCm39)	S952*	probably null	Het
Cxcr2	T	C	1: 74,197,790 (GRCm39)	F95L	probably benign	Het
Ddx55	C	A	5: 124,691,008 (GRCm39)	T5K	probably damaging	Het
Depp1	G	T	6: 116,629,058 (GRCm39)	V134L	possibly damaging	Het
Eif2ak2	T	C	17: 79,171,377 (GRCm39)	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,292,749 (GRCm39)		probably null	Het
Epb41l2	C	G	10: 25,364,916 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,513 (GRCm39)	K493E	probably damaging	Het
Fndc7	C	A	3: 108,779,594 (GRCm39)	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,339 (GRCm39)	I7M	probably benign	Het
Gal3st1	T	A	11: 3,948,903 (GRCm39)	I370N	probably benign	Het
Glo1	C	T	17: 30,816,814 (GRCm39)	S114N	probably benign	Het
Grik1	T	C	16: 87,848,279 (GRCm39)	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,267,835 (GRCm39)	C195R	probably damaging	Het
Hdac9	T	C	12: 34,265,451 (GRCm39)	N806S	probably damaging	Het
Igfn1	T	C	1: 135,897,605 (GRCm39)	N987S	probably benign	Het
Klhl29	G	T	12: 5,260,124 (GRCm39)	S31R	possibly damaging	Het
Lama4	C	T	10: 38,970,907 (GRCm39)	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,443,051 (GRCm39)	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,607,421 (GRCm39)	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,955 (GRCm39)	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,276,088 (GRCm39)	A474V	possibly damaging	Het
Msl1	A	G	11: 98,694,908 (GRCm39)	H134R	probably damaging	Het
Muc5b	T	C	7: 141,411,236 (GRCm39)	M1394T	unknown	Het
Myof	G	A	19: 37,931,962 (GRCm39)	T968I	probably benign	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Ncoa5	C	T	2: 164,844,055 (GRCm39)	G116D	probably damaging	Het
Ndst2	A	G	14: 20,777,562 (GRCm39)	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,810,601 (GRCm39)	V459E	probably damaging	Het
Nup133	A	T	8: 124,633,030 (GRCm39)	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,842,682 (GRCm39)	S829T	probably benign	Het
Or3a1b	A	G	11: 74,012,732 (GRCm39)	S206G	probably benign	Het
Or4f47	T	C	2: 111,972,548 (GRCm39)	F86S	probably damaging	Het
Or52a24	C	T	7: 103,381,357 (GRCm39)	L75F	probably damaging	Het
Or5ac19	A	G	16: 59,089,175 (GRCm39)	L285P	possibly damaging	Het
Pcdh18	C	A	3: 49,710,344 (GRCm39)	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,723 (GRCm39)	L701H	probably damaging	Het
Plau	T	G	14: 20,887,884 (GRCm39)	Y43D	probably damaging	Het
Pon2	T	A	6: 5,266,183 (GRCm39)	I279F	probably benign	Het
Prep	A	T	10: 44,973,591 (GRCm39)	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,658,713 (GRCm39)	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,438,789 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,979,344 (GRCm39)		probably benign	Het
Rpl9-ps6	A	C	19: 32,443,727 (GRCm39)	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,719,818 (GRCm39)	Y609C	probably damaging	Het
Skint5	T	C	4: 113,392,936 (GRCm39)	N1232S	unknown	Het
Slc28a1	T	G	7: 80,818,996 (GRCm39)	V615G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx13	T	G	12: 35,190,185 (GRCm39)	N845K	probably damaging	Het
Srms	T	C	2: 180,851,253 (GRCm39)	Y171C	probably damaging	Het
Supt6	A	G	11: 78,122,644 (GRCm39)	L193P	probably damaging	Het
Syt7	G	A	19: 10,421,408 (GRCm39)	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,507,096 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,650,235 (GRCm39)	K449N	possibly damaging	Het
Trim29	A	T	9: 43,230,681 (GRCm39)	D288V	probably benign	Het
Ttc13	T	A	8: 125,408,900 (GRCm39)		probably null	Het
Uchl3	A	T	14: 101,928,033 (GRCm39)	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,895 (GRCm39)	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,757 (GRCm39)	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,405,362 (GRCm39)	K88*	probably null	Het
Ylpm1	C	A	12: 85,077,620 (GRCm39)	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,751,305 (GRCm39)	K667E	probably damaging	Het

Other mutations in Pld5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Pld5	APN	1	175,967,585 (GRCm39)	missense	probably damaging	1.00
IGL00949:Pld5	APN	1	175,803,039 (GRCm39)	missense	probably damaging	1.00
IGL01067:Pld5	APN	1	176,102,445 (GRCm39)	utr 5 prime	probably benign
IGL02174:Pld5	APN	1	176,102,310 (GRCm39)	missense	possibly damaging	0.86
IGL02380:Pld5	APN	1	175,967,610 (GRCm39)	missense	probably damaging	0.97
IGL02879:Pld5	APN	1	175,798,157 (GRCm39)	missense	probably damaging	1.00
R0087:Pld5	UTSW	1	175,812,025 (GRCm39)	missense	probably damaging	0.98
R0135:Pld5	UTSW	1	175,798,155 (GRCm39)	missense	probably damaging	1.00
R0144:Pld5	UTSW	1	175,798,107 (GRCm39)	missense	probably benign	0.00
R0362:Pld5	UTSW	1	175,803,146 (GRCm39)	nonsense	probably null
R0453:Pld5	UTSW	1	175,917,522 (GRCm39)	missense	possibly damaging	0.75
R0454:Pld5	UTSW	1	176,102,295 (GRCm39)	missense	probably benign	0.00
R0722:Pld5	UTSW	1	175,803,081 (GRCm39)	missense	probably benign	0.34
R0751:Pld5	UTSW	1	175,872,462 (GRCm39)	missense	probably damaging	0.98
R0785:Pld5	UTSW	1	175,803,018 (GRCm39)	splice site	probably benign
R1184:Pld5	UTSW	1	175,872,462 (GRCm39)	missense	probably damaging	0.98
R1501:Pld5	UTSW	1	175,803,087 (GRCm39)	missense	probably benign	0.36
R1644:Pld5	UTSW	1	175,803,192 (GRCm39)	missense	possibly damaging	0.86
R2012:Pld5	UTSW	1	175,791,579 (GRCm39)	missense	probably benign	0.27
R2426:Pld5	UTSW	1	175,791,542 (GRCm39)	missense	probably benign
R3508:Pld5	UTSW	1	175,821,603 (GRCm39)	missense	probably damaging	1.00
R3917:Pld5	UTSW	1	175,791,504 (GRCm39)	missense	probably benign	0.00
R4207:Pld5	UTSW	1	175,821,441 (GRCm39)	missense	probably damaging	1.00
R4373:Pld5	UTSW	1	175,967,583 (GRCm39)	missense	probably damaging	1.00
R4828:Pld5	UTSW	1	176,102,433 (GRCm39)	missense	probably benign	0.06
R4831:Pld5	UTSW	1	176,102,450 (GRCm39)	utr 5 prime	probably benign
R5861:Pld5	UTSW	1	175,917,571 (GRCm39)	missense	probably damaging	1.00
R6182:Pld5	UTSW	1	175,872,420 (GRCm39)	missense	probably benign	0.35
R6191:Pld5	UTSW	1	175,798,100 (GRCm39)	missense	probably benign	0.04
R6246:Pld5	UTSW	1	175,791,475 (GRCm39)	nonsense	probably null
R7082:Pld5	UTSW	1	175,917,442 (GRCm39)	missense	probably benign	0.21
R7164:Pld5	UTSW	1	176,041,187 (GRCm39)	start codon destroyed	probably null	0.00
R7237:Pld5	UTSW	1	176,102,301 (GRCm39)	missense	possibly damaging	0.79
R7635:Pld5	UTSW	1	175,821,416 (GRCm39)	critical splice donor site	probably null
R7805:Pld5	UTSW	1	175,872,480 (GRCm39)	missense	probably damaging	1.00
R7967:Pld5	UTSW	1	176,102,264 (GRCm39)	missense	probably benign	0.03
R8038:Pld5	UTSW	1	175,872,463 (GRCm39)	missense	probably benign	0.19
R8995:Pld5	UTSW	1	175,791,580 (GRCm39)	missense	probably benign	0.01
R9033:Pld5	UTSW	1	175,967,585 (GRCm39)	missense	probably damaging	0.99
R9067:Pld5	UTSW	1	175,917,474 (GRCm39)	missense	probably benign	0.00
R9156:Pld5	UTSW	1	175,902,003 (GRCm39)	missense	probably benign	0.05
R9156:Pld5	UTSW	1	175,803,104 (GRCm39)	missense	possibly damaging	0.73
R9712:Pld5	UTSW	1	175,791,572 (GRCm39)	missense	probably benign	0.01
X0004:Pld5	UTSW	1	176,089,088 (GRCm39)	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