Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Pld4'

528829

Institutional Source

Beutler Lab

Gene Symbol

Pld4

Ensembl Gene

ENSMUSG00000052160

Gene Name

phospholipase D family, member 4

Synonyms

thss

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112760655-112768990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112765051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 213 (S213P)

Ref Sequence

ENSEMBL: ENSMUSP00000067002 (fasta)

Gene Model

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

AlphaFold

Q8BG07

Predicted Effect

probably damaging
Transcript: ENSMUST00000063888
AA Change: S213P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: S213P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222886

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Pld4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Pld4	APN	12	112763491	missense	probably benign	0.01
IGL01839:Pld4	APN	12	112765079	missense	probably damaging	1.00
IGL01954:Pld4	APN	12	112767921	critical splice donor site	probably null
IGL02253:Pld4	APN	12	112766707	missense	probably damaging	1.00
IGL03149:Pld4	APN	12	112766829	missense	probably benign	0.00
IGL03278:Pld4	APN	12	112766731	missense	probably damaging	0.98
IGL03349:Pld4	APN	12	112767879	missense	probably benign	0.01
Lipodicum	UTSW	12	112765064	missense	probably damaging	1.00
PIT4403001:Pld4	UTSW	12	112767822	missense	probably damaging	1.00
PIT4468001:Pld4	UTSW	12	112767822	missense	probably damaging	1.00
R0052:Pld4	UTSW	12	112767857	missense	probably benign	0.03
R1078:Pld4	UTSW	12	112763442	missense	probably benign
R1756:Pld4	UTSW	12	112763392	splice site	probably null
R2006:Pld4	UTSW	12	112768489	missense	possibly damaging	0.89
R2037:Pld4	UTSW	12	112768558	missense	probably damaging	1.00
R3738:Pld4	UTSW	12	112768035	missense	probably benign	0.07
R4630:Pld4	UTSW	12	112765064	missense	probably damaging	1.00
R4911:Pld4	UTSW	12	112764517	missense	probably benign	0.01
R5008:Pld4	UTSW	12	112768050	missense	possibly damaging	0.89
R5263:Pld4	UTSW	12	112765031	missense	probably damaging	1.00
R5310:Pld4	UTSW	12	112768612	missense	probably damaging	1.00
R5386:Pld4	UTSW	12	112763988	nonsense	probably null
R5513:Pld4	UTSW	12	112762554	missense	probably benign
R5788:Pld4	UTSW	12	112764117	missense	probably benign
R6085:Pld4	UTSW	12	112766886	missense	probably benign	0.01
R6157:Pld4	UTSW	12	112768101	missense	probably damaging	1.00
R6767:Pld4	UTSW	12	112764115	missense	possibly damaging	0.51
R6962:Pld4	UTSW	12	112766854	missense	probably benign	0.00
R7864:Pld4	UTSW	12	112765123	missense	probably damaging	1.00
R8792:Pld4	UTSW	12	112763490	missense	probably benign	0.00
R8826:Pld4	UTSW	12	112766776	missense	possibly damaging	0.95
R9790:Pld4	UTSW	12	112768428	missense	probably damaging	1.00
R9791:Pld4	UTSW	12	112768428	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGCCTTGATCAGTGGGG -3'
(R):5'- CAAGGTTCTGCTTGCTAACTCC -3'

Sequencing Primer
(F):5'- AGCCTTGATCAGTGGGGTCATTC -3'
(R):5'- TGCTAACTCCTCCCAGTACCAG -3'

Posted On

2018-07-24