Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Pld5'

549576

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 #

R7082 (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 176089876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 164 (C164S)

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: C164S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: C164S

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: C102S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: C102S

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

0.3902

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,179,280	N109Y	unknown	Het
A430005L14Rik	C	T	4: 153,959,764	R11W	probably damaging	Het
Aadacl2	T	A	3: 60,024,885	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,775,333	R887G	probably benign	Het
Aox4	G	T	1: 58,224,193	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,658,819	I122T	probably damaging	Het
Batf2	G	T	19: 6,171,375	A72S	possibly damaging	Het
Bptf	T	C	11: 107,086,747	D749G	probably benign	Het
Cacybp	A	G	1: 160,203,659	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,867,873	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,729,118	D149G	probably benign	Het
Chtop	A	G	3: 90,507,584	V9A	probably benign	Het
Cnot9	A	G	1: 74,527,006	I185M	probably damaging	Het
Col6a5	A	G	9: 105,931,239	I870T	unknown	Het
Cr1l	A	G	1: 195,123,698	I159T	probably benign	Het
Cthrc1	T	C	15: 39,077,100	S33P	probably benign	Het
Dlg2	T	A	7: 90,731,984	W44R	probably benign	Het
Dlgap4	T	C	2: 156,748,422		probably null	Het
Dna2	A	G	10: 62,954,317	H193R	possibly damaging	Het
Espnl	T	A	1: 91,334,799	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,223,475	V293I	probably benign	Het
Fam76b	A	G	9: 13,833,012	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,746,954	I35F	probably benign	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gm14548	C	T	7: 3,895,511	V313M	probably damaging	Het
Gm9195	T	A	14: 72,442,712	Q2219L	probably benign	Het
Gm9573	A	T	17: 35,621,201	S698T	unknown	Het
Gnptg	T	C	17: 25,234,720	T283A	probably benign	Het
Grap2	G	A	15: 80,648,498	V289M	probably benign	Het
Hk3	T	C	13: 55,006,897	T767A	probably benign	Het
Hs3st5	A	G	10: 36,832,837	I123V	probably benign	Het
Il6st	A	G	13: 112,504,032	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,695,380	H398Q	probably damaging	Het
Kcnk1	A	G	8: 125,995,548	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,982,883	T41A	probably benign	Het
Krt14	G	A	11: 100,203,341	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,835,791	R102G	probably benign	Het
Map3k9	G	A	12: 81,724,702	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341	N5088K	probably benign	Het
Mmp9	T	A	2: 164,948,892	S67T	probably benign	Het
Mrps18c	A	G	5: 100,804,404	E143G	probably damaging	Het
Nags	C	A	11: 102,147,472	R335S	possibly damaging	Het
Nars	A	G	18: 64,504,354	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,663	V253G	possibly damaging	Het
Nos2	C	A	11: 78,928,579	T39K	probably benign	Het
Olfr1411	G	A	1: 92,596,418		probably benign	Het
Olfr574	T	C	7: 102,949,248	V261A	probably damaging	Het
Olfr601	C	A	7: 103,358,288	R302L	possibly damaging	Het
Olfr796	T	A	10: 129,607,547	*311Y	probably null	Het
Olfr796	T	A	10: 129,607,548	*311L	probably null	Het
Olfr798	C	T	10: 129,625,765	V99M	probably benign	Het
Panx3	G	A	9: 37,666,617	P106S	probably benign	Het
Pappa2	G	A	1: 158,763,119	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,266,991	D665G	probably damaging	Het
Pde2a	T	C	7: 101,508,096	L676P	probably damaging	Het
Pf4	A	G	5: 90,772,992	T60A	possibly damaging	Het
Psd3	A	T	8: 67,904,148	M640K	probably benign	Het
Ptf1a	A	G	2: 19,445,865	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,708,730	C313Y	probably benign	Het
Ranbp10	A	G	8: 105,773,946	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,718,936	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,115,559	L4P	probably benign	Het
Rgs12	A	G	5: 34,966,706	N611S	probably benign	Het
Sacs	C	A	14: 61,210,517	N3337K	possibly damaging	Het
Sbno2	A	T	10: 80,060,090		probably null	Het
Scrn2	T	A	11: 97,033,082	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,154,407	I198L	probably benign	Het
Shank2	T	C	7: 144,410,359	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,377,941	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,791,027	E406A	probably damaging	Het
Speg	C	T	1: 75,411,447	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,057,732	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,021,520	Y188N	probably damaging	Het
Sspo	A	T	6: 48,478,609		probably null	Het
Ssx2ip	A	T	3: 146,430,948	D317V	probably benign	Het
Tmco3	G	T	8: 13,320,847	E172*	probably null	Het
Trpc4	G	A	3: 54,299,098	W573*	probably null	Het
Ttn	T	C	2: 76,749,996	I23518V	probably benign	Het
Tubal3	A	G	13: 3,933,050	T277A	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,890,065	R1086L	probably damaging	Het
Unc5b	A	T	10: 60,775,088	L391H	probably damaging	Het
Vmn2r76	A	G	7: 86,225,232	F846L	probably benign	Het
Vps13c	T	A	9: 67,883,453	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,332,393	S498*	probably null	Het
Zfand4	T	A	6: 116,328,376		probably null	Het
Zfp451	A	T	1: 33,772,891		probably null	Het
Zfp607a	A	T	7: 27,878,758	I418F	probably damaging	Het
Zfp612	A	G	8: 110,089,705	T515A	probably damaging	Het
Zfp708	G	T	13: 67,071,136	L208I	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
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
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'- CACATGCTTAACCATGGCAC -3'
(R):5'- TGCAGGTGATAAGATCAATAGCTTC -3'

Sequencing Primer
(F):5'- TGGCACAGCTCCATAAACAATAAAC -3'
(R):5'- ACTTACCGCTCTTCCAAG -3'

Posted On

2019-05-15