Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Pld5'

307320

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family member 5

Synonyms

B230365F16Rik

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175789872-176102878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175791504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 501 (S501P)

Ref Sequence

ENSEMBL: ENSMUSP00000069326 (fasta)

Gene Model

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

AlphaFold

Q3UNN8

Predicted Effect

probably benign
Transcript: ENSMUST00000065967
AA Change: S501P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: S501P

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: ENSMUST00000111167
AA Change: S439P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: S439P

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Apol11b	A	G	15: 77,519,504 (GRCm39)	I192T	probably benign	Het
Appl1	A	T	14: 26,650,561 (GRCm39)	F537Y	probably damaging	Het
Atad5	A	C	11: 79,994,120 (GRCm39)	K785N	probably null	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Bcam	T	C	7: 19,499,375 (GRCm39)	Y216C	probably damaging	Het
Brca2	A	G	5: 150,464,292 (GRCm39)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,561,453 (GRCm39)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,907,366 (GRCm39)		probably null	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,441,940 (GRCm39)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,933,719 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,711,258 (GRCm39)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,886,189 (GRCm39)	D142G	probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,473,379 (GRCm39)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Gm1043	G	A	5: 37,350,285 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,806,760 (GRCm39)	F144L	probably benign	Het
Gm21961	A	T	15: 64,886,733 (GRCm39)	D7E	unknown	Het
Gtf3a	A	G	5: 146,892,244 (GRCm39)	K332E	probably benign	Het
Haao	A	G	17: 84,146,228 (GRCm39)		probably null	Het
Habp2	T	A	19: 56,299,611 (GRCm39)	C170S	probably damaging	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Herc1	T	G	9: 66,341,748 (GRCm39)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 119,956,624 (GRCm39)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,286,625 (GRCm39)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,012,449 (GRCm39)		probably benign	Het
Jund	C	T	8: 71,151,673 (GRCm39)		probably benign	Het
Klra14-ps	T	C	6: 130,134,595 (GRCm39)		noncoding transcript	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myd88	T	C	9: 119,170,464 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,557,404 (GRCm39)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,060,002 (GRCm39)	Y33H	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Or10al2	T	A	17: 37,983,684 (GRCm39)	F257I	probably damaging	Het
Or8b37	A	T	9: 37,958,841 (GRCm39)	I108F	probably damaging	Het
Patj	A	T	4: 98,480,245 (GRCm39)	K1317*	probably null	Het
Pnpo	A	G	11: 96,830,583 (GRCm39)	V146A	probably damaging	Het
Ppdpf	A	G	2: 180,829,521 (GRCm39)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,441,785 (GRCm39)	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,788 (GRCm39)	D294G	probably benign	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Shank3	A	G	15: 89,387,587 (GRCm39)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,899,899 (GRCm39)		probably null	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a5	T	C	7: 49,561,617 (GRCm39)	S50P	probably damaging	Het
Slfn8	A	T	11: 82,907,819 (GRCm39)	Y241*	probably null	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,008 (GRCm39)	D82E	probably benign	Het
Spx	A	C	6: 142,359,757 (GRCm39)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,860,976 (GRCm39)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,950,214 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Trip6	A	G	5: 137,311,941 (GRCm39)	C47R	probably benign	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,223,630 (GRCm39)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,464,620 (GRCm39)	F557L	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,108,039 (GRCm39)		probably benign	Het
Zic4	C	A	9: 91,266,394 (GRCm39)		probably benign	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
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
R6737:Pld5	UTSW	1	175,917,588 (GRCm39)	missense	probably damaging	1.00
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'- GTCAGAGCTCATAGATACAAAAGTC -3'
(R):5'- TTTTCCCAGTGGACCGTACC -3'

Sequencing Primer
(F):5'- GTGCTAAGATGTTGTTAGCTA -3'
(R):5'- AGTGGACCGTACCTTCTCATC -3'

Posted On

2015-04-17