Mutagenetix > Incidental Mutations

Incidental Mutation 'R8995:Pld5'

684635

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 175964014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 475 (D475E)

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: D475E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: D475E

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: D413E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: D413E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

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
1700018B08Rik	A	G	8: 121,531,025	*214R	probably null	Het
Acd	A	G	8: 105,700,499	L93P	probably damaging	Het
Adgrv1	GTT	GT	13: 81,405,338		probably null	Het
Aldh1b1	T	A	4: 45,803,413	M317K	possibly damaging	Het
Arfgap2	C	A	2: 91,273,584	Q342K	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Asxl1	C	T	2: 153,393,966	R323C	probably damaging	Het
Bank1	G	T	3: 136,066,503	D656E	possibly damaging	Het
Bdh2	A	G	3: 135,295,228	M120V	probably damaging	Het
Bend7	A	G	2: 4,744,292	I73M	probably damaging	Het
Casc4	A	C	2: 121,925,718	E409D	probably damaging	Het
Cd207	C	A	6: 83,675,909	D80Y	probably damaging	Het
Cdon	A	G	9: 35,486,797	T937A	probably damaging	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Ddx50	A	G	10: 62,634,083	I375T	probably damaging	Het
Dhrs1	T	A	14: 55,739,939	T241S	probably benign	Het
Eef1b2	T	C	1: 63,178,470	Y79H	probably damaging	Het
Elmod2	A	G	8: 83,322,686	C84R	probably benign	Het
Exo1	A	G	1: 175,908,561	H837R	probably benign	Het
Fam207a	G	A	10: 77,497,469	R121*	probably null	Het
Fat3	T	C	9: 16,375,602	N875S	probably damaging	Het
Flvcr1	A	T	1: 191,011,620	L413Q	probably damaging	Het
Fras1	G	T	5: 96,712,556	V2154F	possibly damaging	Het
Gm10031	T	A	1: 156,525,303	V358E	probably benign	Het
Gm31371	A	T	8: 19,903,424	H11L		Het
Hectd4	G	A	5: 121,254,359	V229M	possibly damaging	Het
Ifitm6	A	T	7: 141,016,704	V52E	probably damaging	Het
Igkv4-58	A	G	6: 69,500,527	S29P	probably damaging	Het
Klc1	G	A	12: 111,776,910	A224T	probably damaging	Het
Knl1	T	C	2: 119,072,509	S1564P	probably benign	Het
Krt25	T	C	11: 99,316,556	D399G	probably benign	Het
Lamc1	T	C	1: 153,332,247	Q98R	probably benign	Het
Lpar1	T	A	4: 58,486,954	M106L	probably damaging	Het
Mpc1	A	G	17: 8,283,952	Y21C	probably benign	Het
Msr1	T	A	8: 39,589,419	I372F	possibly damaging	Het
Ndc80	T	C	17: 71,508,603	N396D	probably benign	Het
Nphp4	G	A	4: 152,538,888	R673H	probably damaging	Het
Nsd3	T	C	8: 25,641,153	F178S	probably damaging	Het
Olfr404-ps1	A	T	11: 74,239,794	T77S	probably benign	Het
Olfr969	T	C	9: 39,796,017	I214T	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,177	F133L	probably damaging	Het
Pikfyve	A	G	1: 65,205,587		probably null	Het
Prop1	G	A	11: 50,951,060	P173L	possibly damaging	Het
Rabepk	G	A	2: 34,799,830		probably benign	Het
Reln	A	G	5: 21,979,579	I1646T	probably benign	Het
Rexo1	A	T	10: 80,550,261	L321Q	probably damaging	Het
Rfx3	T	A	19: 27,806,325	E382V	probably benign	Het
Rnf20	C	T	4: 49,648,437	T415I	possibly damaging	Het
Rpl10-ps3	T	A	9: 50,344,778	D55V	probably benign	Het
Sag	A	G	1: 87,805,330	T7A	probably benign	Het
Saysd1	G	A	14: 20,082,937	R51C	probably damaging	Het
Shprh	T	A	10: 11,164,830	Y682*	probably null	Het
Slc6a13	T	C	6: 121,325,053	I198T	probably damaging	Het
Smyd5	C	A	6: 85,438,847	C101*	probably null	Het
Spata31d1d	A	G	13: 59,726,607	V1038A	probably benign	Het
Stat6	T	C	10: 127,658,642	S692P	probably benign	Het
Tbc1d9	A	T	8: 83,271,551	M1246L	probably benign	Het
Tmprss5	T	A	9: 49,114,594		probably null	Het
Trim12a	A	T	7: 104,304,325	M193K	probably benign	Het
Ube2t	T	A	1: 134,971,920	L102H	probably damaging	Het
Ubr1	G	A	2: 120,866,553	R1623W	probably damaging	Het
Ush2a	T	G	1: 188,444,653	M1338R	probably damaging	Het
Usp36	A	T	11: 118,284,999	L112Q	probably damaging	Het
Vmn1r53	A	G	6: 90,223,775	M189T	probably benign	Het
Vmn1r54	T	C	6: 90,269,686	V194A	probably benign	Het
Vmn2r33	A	G	7: 7,551,193	V787A	probably damaging	Het
Vps26a	A	G	10: 62,464,679	I236T	probably damaging	Het
Vwde	A	T	6: 13,195,997	L343Q	probably damaging	Het
Xdh	A	G	17: 73,898,374	V1032A	probably damaging	Het
Zan	A	G	5: 137,395,620	F4523S	unknown	Het
Zfand5	T	A	19: 21,277,023	V66E	probably benign	Het
Zfp658	T	A	7: 43,573,374	C358S	possibly damaging	Het
Zfp977	T	A	7: 42,582,648	R64W	probably damaging	Het
Zfp995	C	T	17: 21,880,191	S354N	probably benign	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
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
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'- GCATTTGGTCTGAAGCCTTG -3'
(R):5'- GCTGTCATCAGGATTCTGCCTC -3'

Sequencing Primer
(F):5'- TGTCTGTTAGTGAGCTATACGC -3'
(R):5'- GGATTCTGCCTCTCTTATTATTTTGG -3'

Posted On

2021-10-11