Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Pld5'

318951

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 175993875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 242 (T242P)

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: T304P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: T304P

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: T242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: T242P

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

Meta Mutation Damage Score

0.3003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	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
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
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'- GGATTTTGTGCCACCGGAAG -3'
(R):5'- TGAAAGAACTCGGTGTCATCTTCTAC -3'

Sequencing Primer
(F):5'- CCAGTCAACATTCCATGATGGGG -3'
(R):5'- TACAACTGCAGCTGCCTG -3'

Posted On

2015-06-10