Mutagenetix > Incidental Mutations

Incidental Mutation 'R1184:Pld5'

101853

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

039256-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 176044896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 225 (I225T)

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: I225T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: I225T

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: I163T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: I163T

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

Meta Mutation Damage Score

0.9113

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,160,912	R7G	probably damaging	Het
2410089E03Rik	G	T	15: 8,216,487	V1448L	probably benign	Het
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alkal1	A	G	1: 6,389,488	Y96C	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,561,468	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,687,745		probably null	Het
Cars	T	C	7: 143,587,139	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,873,811		probably benign	Het
Cenpe	T	C	3: 135,264,422		probably null	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chd6	G	C	2: 161,030,802	P286R	probably damaging	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Coq4	G	A	2: 29,788,334		probably benign	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Dcun1d4	T	C	5: 73,511,112		probably benign	Het
Depdc7	A	T	2: 104,730,178		probably benign	Het
Dna2	A	G	10: 62,959,198	D416G	probably benign	Het
Dnah2	A	T	11: 69,499,190	I743N	probably damaging	Het
Dnah9	A	G	11: 66,084,612		probably null	Het
Dock3	A	G	9: 106,969,800	S877P	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Epha5	A	T	5: 84,071,275		probably null	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fyb	A	T	15: 6,638,900	I525F	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gcdh	T	C	8: 84,893,442		probably benign	Het
Gk5	T	C	9: 96,150,420		probably benign	Het
Gm21188	A	T	13: 120,035,131	N67K	probably benign	Het
Gm8979	A	G	7: 106,083,952	V32A	probably benign	Het
Grm1	A	G	10: 10,720,034	Y617H	probably benign	Het
Hhipl2	A	T	1: 183,425,134	I131L	probably damaging	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lrig2	T	A	3: 104,490,911	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,362,965	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,913,741		probably null	Het
Myo6	C	T	9: 80,286,382	Q870*	probably null	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325		probably benign	Het
Olfr1216	A	G	2: 89,013,713	M117T	probably damaging	Het
Olfr1440	T	C	19: 12,394,857	V198A	probably benign	Het
Olfr1462	T	G	19: 13,191,375	L236R	probably damaging	Het
Olfr748	A	C	14: 50,710,614	T95P	probably benign	Het
Pclo	A	G	5: 14,522,262	T554A	unknown	Het
Perm1	C	A	4: 156,217,314	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ptpn12	A	C	5: 20,998,356	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,927,772	V391A	possibly damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sebox	A	T	11: 78,503,849	T47S	probably damaging	Het
Sema4b	A	G	7: 80,224,640	T593A	probably benign	Het
Serpina3a	C	T	12: 104,116,528	Q187*	probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc30a3	T	A	5: 31,090,166	H44L	probably damaging	Het
Smarca2	T	C	19: 26,770,933		probably benign	Het
Snrnp200	T	A	2: 127,236,817	C1801S	probably damaging	Het
Soat1	G	A	1: 156,442,374		probably null	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Tbck	T	A	3: 132,837,972	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,049,696	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Trmt112	C	A	19: 6,910,353		probably benign	Het
Trpc4ap	A	G	2: 155,645,070		probably benign	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ttn	A	T	2: 76,861,432		probably benign	Het
Txndc11	C	T	16: 11,128,500	R149Q	probably benign	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Usp30	G	A	5: 114,103,827		probably null	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vps33b	T	A	7: 80,282,486	D135E	probably benign	Het
Vrk2	A	G	11: 26,483,331		probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,648,326	Y129H	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
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
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
X0004:Pld5	UTSW	1	176261522	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACACTGGATTGGGGAATGTGCC -3'
(R):5'- TAGCATCATAAGCGCCTTCGTCACC -3'

Sequencing Primer
(F):5'- TGTGCCTCAATGGTAGAAAGC -3'
(R):5'- TGTGCAAGTACCTGGCTC -3'

Posted On

2014-01-15