Mutagenetix > Incidental Mutation

Incidental Mutation 'R6962:Pld4'

541841

Institutional Source

Beutler Lab

Gene Symbol

Pld4

Ensembl Gene

ENSMUSG00000052160

Gene Name

phospholipase D family member 4

Synonyms

thss

MMRRC Submission

045072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112727089-112735420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112733288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 288 (H288L)

Ref Sequence

ENSEMBL: ENSMUSP00000067002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063888]

AlphaFold

Q8BG07

Predicted Effect

probably benign
Transcript: ENSMUST00000063888
AA Change: H288L

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

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: H288L

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	113	124	N/A	INTRINSIC
PLDc	207	234	1.64e-10	SMART
Pfam:PLDc_3	237	414	5.5e-41	PFAM
PLDc	421	447	4.66e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

96% (74/77)

MGI Phenotype

PHENOTYPE: A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,150 (GRCm39)	K1016E	probably benign	Het
Abca3	T	C	17: 24,583,700 (GRCm39)	F30L	probably benign	Het
Arhgap17	C	T	7: 122,895,655 (GRCm39)	G490R	probably damaging	Het
Arsg	T	A	11: 109,412,495 (GRCm39)	L140H	probably damaging	Het
Bmp2k	T	A	5: 97,179,097 (GRCm39)	C130*	probably null	Het
C4b	T	C	17: 34,951,140 (GRCm39)		probably null	Het
Cdk5r2	A	G	1: 74,894,975 (GRCm39)	Y240C	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Col27a1	A	G	4: 63,237,738 (GRCm39)		probably benign	Het
Cubn	G	A	2: 13,352,840 (GRCm39)	S1966F	probably benign	Het
Dnajc13	T	C	9: 104,058,208 (GRCm39)	Y1509C	probably benign	Het
Dpp4	A	G	2: 62,203,174 (GRCm39)	V265A	probably benign	Het
Dync2i1	A	T	12: 116,175,398 (GRCm39)	D926E	probably damaging	Het
Fbxl8	C	A	8: 105,995,338 (GRCm39)	N283K	possibly damaging	Het
Fev	T	A	1: 74,921,299 (GRCm39)	Q122L	probably benign	Het
Fgd4	T	A	16: 16,301,951 (GRCm39)		probably null	Het
Fnip2	A	C	3: 79,396,610 (GRCm39)	L439R	probably damaging	Het
Git1	C	A	11: 77,395,469 (GRCm39)	Q389K	probably benign	Het
Gm10509	C	G	17: 21,909,833 (GRCm39)	I53M	possibly damaging	Het
Gm5773	A	T	3: 93,681,234 (GRCm39)	H302L	possibly damaging	Het
Greb1l	G	T	18: 10,547,327 (GRCm39)	R1515L	probably damaging	Het
Gsc2	T	C	16: 17,732,902 (GRCm39)	Y2C	possibly damaging	Het
H60b	A	G	10: 22,162,053 (GRCm39)	N93D	probably benign	Het
Hgf	G	A	5: 16,820,752 (GRCm39)	R633Q	probably benign	Het
Hmgb1	C	T	5: 148,985,633 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,598,242 (GRCm39)	T657A	probably damaging	Het
Htt	G	T	5: 35,057,115 (GRCm39)		probably null	Het
Ift80	G	A	3: 68,901,878 (GRCm39)		probably benign	Het
Kcnq5	G	T	1: 21,576,017 (GRCm39)	T229K	probably damaging	Het
Kcp	C	T	6: 29,482,839 (GRCm39)	R1410Q	probably benign	Het
Klhl30	T	G	1: 91,285,137 (GRCm39)	V331G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc37	G	A	11: 103,505,126 (GRCm39)	P105S	possibly damaging	Het
Macf1	C	T	4: 123,334,515 (GRCm39)	R2849Q	probably benign	Het
Mex3b	T	G	7: 82,518,473 (GRCm39)	S263A	probably benign	Het
Mrgpre	A	G	7: 143,334,799 (GRCm39)	S235P	probably damaging	Het
Myh14	A	T	7: 44,307,363 (GRCm39)	V226D	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nudt8	G	T	19: 4,051,831 (GRCm39)	L147F	probably damaging	Het
Or2aj5	T	A	16: 19,424,672 (GRCm39)	I249L	probably benign	Het
Or52e8	T	A	7: 104,624,580 (GRCm39)	N208I	probably benign	Het
Or5w17	A	G	2: 87,584,071 (GRCm39)	Y89H	probably benign	Het
Or6z7	A	T	7: 6,484,008 (GRCm39)	I49N	probably benign	Het
P4htm	C	A	9: 108,456,394 (GRCm39)	A469S	possibly damaging	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppcs	T	G	4: 119,279,375 (GRCm39)	N59T	probably damaging	Het
Ppm1k	A	T	6: 57,492,645 (GRCm39)	C214S	probably damaging	Het
Psg25	C	T	7: 18,263,679 (GRCm39)	G48E	probably damaging	Het
Rassf7	A	G	7: 140,797,503 (GRCm39)	T239A	possibly damaging	Het
Rgs3	G	T	4: 62,618,952 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,767,055 (GRCm39)	T465A	probably benign	Het
Slc4a7	G	T	14: 14,746,021 (GRCm38)	G405C	probably damaging	Het
Smpd3	T	C	8: 106,991,851 (GRCm39)	D234G	probably benign	Het
Spata31f1e	T	C	4: 42,793,323 (GRCm39)	T270A	probably damaging	Het
Ssc4d	A	G	5: 135,991,775 (GRCm39)		probably null	Het
Sugct	G	T	13: 17,032,606 (GRCm39)		probably null	Het
Taok2	C	A	7: 126,466,088 (GRCm39)		probably null	Het
Tbx20	A	G	9: 24,681,036 (GRCm39)	V152A	probably damaging	Het
Tbx4	A	G	11: 85,781,085 (GRCm39)	E66G	probably benign	Het
Thbs2	T	C	17: 14,902,082 (GRCm39)	E382G	probably benign	Het
Ticrr	T	G	7: 79,315,645 (GRCm39)	S300A	possibly damaging	Het
Trim46	A	G	3: 89,146,303 (GRCm39)	L396P	probably damaging	Het
Trim56	A	G	5: 137,141,501 (GRCm39)	F672L	probably damaging	Het
Ttf2	A	G	3: 100,858,453 (GRCm39)	L712S	probably damaging	Het
Unc93b1	T	G	19: 3,986,303 (GRCm39)	D112E	possibly damaging	Het
Usp17lc	T	C	7: 103,068,118 (GRCm39)	L471P	probably benign	Het
Vmn2r85	A	G	10: 130,261,452 (GRCm39)	I295T	probably damaging	Het
Vmn2r96	T	G	17: 18,818,283 (GRCm39)	I812S	probably damaging	Het
Wdr7	G	A	18: 63,998,359 (GRCm39)	C1102Y	possibly damaging	Het
Wnt9b	G	T	11: 103,624,515 (GRCm39)	Q92K	probably null	Het
Zbtb26	A	T	2: 37,326,106 (GRCm39)	M310K	possibly damaging	Het
Zdhhc1	T	C	8: 106,210,279 (GRCm39)	H46R	probably damaging	Het
Zfp628	G	T	7: 4,922,549 (GRCm39)	R257L	probably benign	Het
Zfp747l1	A	T	7: 126,983,487 (GRCm39)	D538E	possibly damaging	Het
Zmat4	A	G	8: 24,392,181 (GRCm39)	T46A	probably benign	Het
Zmiz2	T	A	11: 6,352,455 (GRCm39)	W637R	probably damaging	Het

Other mutations in Pld4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Pld4	APN	12	112,729,925 (GRCm39)	missense	probably benign	0.01
IGL01839:Pld4	APN	12	112,731,513 (GRCm39)	missense	probably damaging	1.00
IGL01954:Pld4	APN	12	112,734,355 (GRCm39)	critical splice donor site	probably null
IGL02253:Pld4	APN	12	112,733,141 (GRCm39)	missense	probably damaging	1.00
IGL03149:Pld4	APN	12	112,733,263 (GRCm39)	missense	probably benign	0.00
IGL03278:Pld4	APN	12	112,733,165 (GRCm39)	missense	probably damaging	0.98
IGL03349:Pld4	APN	12	112,734,313 (GRCm39)	missense	probably benign	0.01
Lipodicum	UTSW	12	112,731,498 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Pld4	UTSW	12	112,734,256 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Pld4	UTSW	12	112,734,256 (GRCm39)	missense	probably damaging	1.00
R0052:Pld4	UTSW	12	112,734,291 (GRCm39)	missense	probably benign	0.03
R1078:Pld4	UTSW	12	112,729,876 (GRCm39)	missense	probably benign
R1756:Pld4	UTSW	12	112,729,826 (GRCm39)	splice site	probably null
R2006:Pld4	UTSW	12	112,734,923 (GRCm39)	missense	possibly damaging	0.89
R2037:Pld4	UTSW	12	112,734,992 (GRCm39)	missense	probably damaging	1.00
R3738:Pld4	UTSW	12	112,734,469 (GRCm39)	missense	probably benign	0.07
R4630:Pld4	UTSW	12	112,731,498 (GRCm39)	missense	probably damaging	1.00
R4911:Pld4	UTSW	12	112,730,951 (GRCm39)	missense	probably benign	0.01
R5008:Pld4	UTSW	12	112,734,484 (GRCm39)	missense	possibly damaging	0.89
R5263:Pld4	UTSW	12	112,731,465 (GRCm39)	missense	probably damaging	1.00
R5310:Pld4	UTSW	12	112,735,046 (GRCm39)	missense	probably damaging	1.00
R5386:Pld4	UTSW	12	112,730,422 (GRCm39)	nonsense	probably null
R5513:Pld4	UTSW	12	112,728,988 (GRCm39)	missense	probably benign
R5788:Pld4	UTSW	12	112,730,551 (GRCm39)	missense	probably benign
R6085:Pld4	UTSW	12	112,733,320 (GRCm39)	missense	probably benign	0.01
R6157:Pld4	UTSW	12	112,734,535 (GRCm39)	missense	probably damaging	1.00
R6702:Pld4	UTSW	12	112,731,485 (GRCm39)	missense	probably damaging	1.00
R6767:Pld4	UTSW	12	112,730,549 (GRCm39)	missense	possibly damaging	0.51
R7864:Pld4	UTSW	12	112,731,557 (GRCm39)	missense	probably damaging	1.00
R8792:Pld4	UTSW	12	112,729,924 (GRCm39)	missense	probably benign	0.00
R8826:Pld4	UTSW	12	112,733,210 (GRCm39)	missense	possibly damaging	0.95
R9790:Pld4	UTSW	12	112,734,862 (GRCm39)	missense	probably damaging	1.00
R9791:Pld4	UTSW	12	112,734,862 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCACATAGCCCCAGGAGATC -3'
(R):5'- AGTCTGGAGATTCCTGGGAC -3'

Sequencing Primer
(F):5'- ATAGCCCCAGGAGATCTTTGC -3'
(R):5'- TCTGGAGATTCCTGGGACCTCAG -3'

Posted On

2018-11-28