Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Pld5'

695354

Institutional Source

Beutler Lab

Gene Symbol

Pld5

Ensembl Gene

ENSMUSG00000055214

Gene Name

phospholipase D family, member 5

Synonyms

B230365F16Rik

MMRRC Submission

068974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175962306-176275312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 176074437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 195 (V195A)

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: V195A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: V195A

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: V133A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: V133A

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: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,670,998	L1150V	probably damaging	Het
AB124611	A	G	9: 21,544,693	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,521,183	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,040,084	S213P	probably damaging	Het
Apobec2	A	T	17: 48,432,503	L36H		Het
Arrb1	A	G	7: 99,588,073	D78G		Het
Astn1	A	G	1: 158,510,985	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676	D240H	probably damaging	Het
Cmya5	A	C	13: 93,097,370	D403E	unknown	Het
Crxos	A	C	7: 15,897,511	I45L	probably benign	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,422,861	I4204T		Het
Ei24	A	G	9: 36,786,031	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,883,630	V397F	probably damaging	Het
Eif4g2	T	C	7: 111,073,762	I134V		Het
Fam186a	A	G	15: 99,943,278	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 70,034,657	M210V	probably damaging	Het
Gm21671	CTTT	C	5: 25,950,859		probably benign	Het
Gm4788	A	G	1: 139,732,347	I680T	probably damaging	Het
Gpatch8	A	G	11: 102,479,473	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,645,777	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,167,650	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,122,844	Q445*	probably null	Het
Kcnc3	A	G	7: 44,591,168	N95D	probably damaging	Het
Krt40	C	T	11: 99,539,867		probably null	Het
Lgi1	A	G	19: 38,301,298	T271A	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Map3k21	A	G	8: 125,938,724	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mug1	C	A	6: 121,874,431	D762E	probably damaging	Het
Myo1e	A	T	9: 70,359,323	N615I	probably damaging	Het
Olfr1280	T	C	2: 111,315,482	M1T	probably null	Het
Olfr564	T	C	7: 102,804,132	L218P	probably damaging	Het
Rad54l	T	C	4: 116,123,152		probably benign	Het
Rnf123	A	T	9: 108,063,028		probably benign	Het
Rnf213	A	G	11: 119,440,748	E2262G		Het
Rp1	C	A	1: 4,163,938	V910L	unknown	Het
Rpp21	A	T	17: 36,257,515	C23S	probably benign	Het
Scn11a	T	C	9: 119,759,923	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,125,436	L81F	possibly damaging	Het
Sco2	T	C	15: 89,372,160	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,094,232	V112A	probably benign	Het
Slc5a11	A	T	7: 123,265,269	K363*	probably null	Het
Smg1	G	T	7: 118,154,661	T2563K	unknown	Het
Snap47	A	T	11: 59,428,464	S283T	probably damaging	Het
Stat1	G	T	1: 52,139,229	R274L	probably damaging	Het
Stoml1	A	G	9: 58,257,126	T166A		Het
Svs2	G	T	2: 164,237,589	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,659,459	H209L	probably benign	Het
Tmco3	T	A	8: 13,310,228	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,841,686	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,937,109	N149S	probably damaging	Het
Ttll4	T	C	1: 74,680,066	F359L	probably benign	Het
Ttn	T	A	2: 76,954,818	M784L	unknown	Het
Ubr1	A	G	2: 120,873,122		probably null	Het
Ubxn2b	C	T	4: 6,214,646	P227S	probably damaging	Het
Upb1	C	T	10: 75,430,127	L263F	probably benign	Het
Usp15	T	A	10: 123,113,648	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,613,237	C400Y	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
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
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'- CTCTCAGGGGCTTTAATCAGGC -3'
(R):5'- AGCACTTGCCTTTTACAAACCG -3'

Sequencing Primer
(F):5'- TGTCCAAGGAGAACTAAGGA -3'
(R):5'- GCACTTGCCTTTTACAAACCGAATAC -3'

Posted On

2022-01-20