Mutagenetix > Incidental Mutations

Incidental Mutation 'R7805:Pld5'

600706

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 176044914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 219 (L219Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069326 (fasta)

Gene Model

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

AlphaFold

Q3UNN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065967
AA Change: L219Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: L219Q

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: L157Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: L157Q

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

0.6414

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (43/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	G	T	4: 35,194,170	H372Q		Het
Abca3	G	A	17: 24,405,154		probably null	Het
Aida	A	G	1: 183,304,698	K44R	probably damaging	Het
Ano5	G	A	7: 51,537,800	V79M	probably damaging	Het
Armc9	G	A	1: 86,196,319	G405D	probably damaging	Het
Baat	T	A	4: 49,490,327	R252S	probably benign	Het
Camkk2	G	T	5: 122,742,212	T447K	possibly damaging	Het
Car2	A	G	3: 14,900,070	I255V	probably benign	Het
Cdhr1	A	T	14: 37,081,545	S525T	probably benign	Het
Col24a1	T	C	3: 145,314,140	Y91H	probably benign	Het
Cryba1	C	A	11: 77,722,608		probably null	Het
Csmd2	G	A	4: 128,419,573	E1348K		Het
Dcst1	A	G	3: 89,352,761	L592P	probably damaging	Het
Ddx17	A	G	15: 79,537,522	I334T	probably damaging	Het
Dspp	A	T	5: 104,175,393	N134I	probably damaging	Het
Eif4g3	T	C	4: 138,146,354	V535A	probably benign	Het
Erc1	T	C	6: 119,713,771	E847G	possibly damaging	Het
Fancc	A	G	13: 63,360,242	S160P	possibly damaging	Het
Fndc9	C	T	11: 46,238,311	A219V	probably damaging	Het
Ifitm1	G	A	7: 140,968,369	W38*	probably null	Het
Iqch	A	G	9: 63,421,720		probably null	Het
Krt9	T	C	11: 100,192,696	R170G	possibly damaging	Het
Lama4	T	C	10: 39,026,751		probably null	Het
Lrrc18	A	G	14: 33,009,016	K171E	probably damaging	Het
Magi1	A	G	6: 93,682,946	S1007P	probably benign	Het
Muc16	T	A	9: 18,638,493	L5501F	possibly damaging	Het
Nrxn2	A	G	19: 6,531,706	N1557S	probably benign	Het
Olfr1002	A	T	2: 85,647,450	Y290*	probably null	Het
Ovgp1	A	G	3: 105,986,794	T628A	unknown	Het
Rabggta	G	A	14: 55,719,512	T273I	probably benign	Het
Rnf208	A	G	2: 25,243,900	D202G	probably damaging	Het
Sacs	A	G	14: 61,203,591	N1029D	not run	Het
Sema6b	T	A	17: 56,131,555	I114F	probably damaging	Het
Sgpp1	A	G	12: 75,722,677	I239T	probably damaging	Het
Slc12a3	A	G	8: 94,344,887	N638S	probably damaging	Het
Slc39a11	T	C	11: 113,591,955		probably null	Het
Smc3	T	C	19: 53,640,959	S948P	probably benign	Het
Snx24	T	A	18: 53,389,551	H159Q	probably benign	Het
Sycp2	G	T	2: 178,380,858	N493K	probably damaging	Het
Tiam2	A	G	17: 3,509,410	D1242G	probably damaging	Het
Triobp	G	T	15: 78,974,004	R1268S	probably benign	Het
Wdr12	T	C	1: 60,097,594		probably benign	Het
Xirp2	T	A	2: 67,509,981	S855R	probably benign	Het
Zscan20	T	A	4: 128,585,806	H964L	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
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
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'- AGAAAGCATGCTGAACTTAGTCC -3'
(R):5'- TCGTCACCAAAGCCTTGTGC -3'

Sequencing Primer
(F):5'- GCATGCTGAACTTAGTCCTTGGTATC -3'
(R):5'- AAGCCTTGTGCAAGTACCTG -3'

Posted On

2019-11-26