Mutagenetix > Incidental Mutations

Incidental Mutation 'R1640:Plbd1'

173460

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

039676-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136612070-136661928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136640125 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 185 (K185E)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032336] [ENSMUST00000205021]

Predicted Effect

probably benign
Transcript: ENSMUST00000032336
AA Change: K185E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: K185E

Domain	Start	End	E-Value	Type
Pfam:Phospholip_B	16	545	3.7e-198	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137139

Predicted Effect

probably benign
Transcript: ENSMUST00000205021
AA Change: K73E

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

SMART Domains

Protein: ENSMUSP00000144967
Gene: ENSMUSG00000030214
AA Change: K73E

Domain	Start	End	E-Value	Type
Pfam:Phospholip_B	1	75	3.8e-15	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 124,839,845	V279L	probably damaging	Het
4931417E11Rik	A	G	6: 73,468,886	Y227H	probably benign	Het
Acot6	A	T	12: 84,101,126	Y52F	probably damaging	Het
Adam22	C	T	5: 8,145,689	V284I	probably damaging	Het
Agl	A	T	3: 116,752,090	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,585,499	P27S	probably benign	Het
C1ra	A	G	6: 124,522,274	N473S	probably benign	Het
C87436	T	C	6: 86,446,251	L269P	probably damaging	Het
Calcrl	A	G	2: 84,333,677	V390A	probably damaging	Het
Ccp110	T	G	7: 118,715,528		probably null	Het
Cerk	A	G	15: 86,149,400	V274A	probably damaging	Het
Chd1l	A	T	3: 97,580,991	S570T	probably benign	Het
Chst14	T	A	2: 118,926,898	W83R	probably damaging	Het
Chsy1	A	T	7: 66,171,514	D499V	probably benign	Het
Ckmt1	C	A	2: 121,359,717		probably null	Het
Cnot1	A	T	8: 95,769,832	V282D	probably damaging	Het
Cntn3	A	T	6: 102,242,013	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,395,294	D1203V	probably benign	Het
Col4a4	A	G	1: 82,535,770	Y169H	unknown	Het
Cwc22	A	G	2: 77,915,530	F454S	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs7	A	T	12: 72,652,315	W298R	possibly damaging	Het
Dock7	G	T	4: 98,945,246	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,749,778	T67A	probably benign	Het
Drc1	A	G	5: 30,363,957	D654G	possibly damaging	Het
Ech1	A	T	7: 28,831,839	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175	Q8*	probably null	Het
Etv5	A	T	16: 22,435,914	D65E	probably damaging	Het
F2rl3	A	G	8: 72,762,906	R254G	probably benign	Het
Fabp5	T	G	3: 10,015,110	F73L	probably benign	Het
Fbrs	T	C	7: 127,487,311	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,807	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,308,673	S291A	possibly damaging	Het
Galnt13	A	G	2: 55,060,546	Y413C	probably damaging	Het
Gfer	A	G	17: 24,695,363	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,836,524	H1299R	possibly damaging	Het
Gm10110	T	C	14: 89,898,243		noncoding transcript	Het
Gprc5a	T	G	6: 135,078,654	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721	T121A	probably benign	Het
Grk3	A	G	5: 113,015,382	V33A	probably benign	Het
Hc	A	T	2: 35,057,324	Y59*	probably null	Het
Hrnr	A	G	3: 93,332,516	I3354V	unknown	Het
Hyou1	C	G	9: 44,389,406	T924S	probably benign	Het
Ifi209	T	G	1: 173,637,365	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,732,534	V372A	probably benign	Het
Igdcc4	T	A	9: 65,122,795	L328H	probably damaging	Het
Kif18a	A	G	2: 109,289,816	T155A	probably benign	Het
Kmt2d	A	G	15: 98,845,057		probably benign	Het
Kri1	T	C	9: 21,280,457	D281G	possibly damaging	Het
Larp1b	T	A	3: 41,034,072	M1K	probably null	Het
Loxhd1	A	G	18: 77,402,563	D1225G	probably damaging	Het
Mzf1	A	G	7: 13,043,270	*736Q	probably null	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,808,033	M1K	probably null	Het
Olfr1095	T	A	2: 86,851,227	H157L	probably benign	Het
Olfr1100	A	C	2: 86,978,619	M59R	probably damaging	Het
Parp12	T	C	6: 39,096,640	D417G	probably benign	Het
Parp12	T	C	6: 39,111,678	H208R	probably damaging	Het
Pcif1	T	C	2: 164,885,683	I132T	probably benign	Het
Pck2	A	G	14: 55,548,584	D610G	possibly damaging	Het
Ppp2r5a	T	C	1: 191,353,929	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,657,405	V805D	probably damaging	Het
Rprd2	C	T	3: 95,763,747		probably benign	Het
Ryr3	A	G	2: 112,900,833	S711P	probably damaging	Het
Slc17a3	T	A	13: 23,852,357	L212*	probably null	Het
Slc4a8	A	G	15: 100,783,787	D41G	probably benign	Het
Slc9a3	T	A	13: 74,158,818	V354E	probably damaging	Het
Spen	A	G	4: 141,468,943	I3632T	probably damaging	Het
Tesc	A	G	5: 118,054,849	S77G	probably benign	Het
Tet3	A	T	6: 83,369,315	V1245D	probably benign	Het
Tox4	T	A	14: 52,292,543	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,027,283	Y193*	probably null	Het
Trio	T	C	15: 27,833,044	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,772,626	T1404I	probably benign	Het
Usp47	T	C	7: 112,083,127	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,894,123	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,250,178	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,605,116	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,406,901		probably null	Het
Zfp503	A	T	14: 21,984,901	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,580,106	C332G	probably damaging	Het

Other mutations in Plbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Plbd1	APN	6	136634470	missense	probably benign
IGL02131:Plbd1	APN	6	136661683	utr 5 prime	probably benign
R0355:Plbd1	UTSW	6	136641167	missense	possibly damaging	0.71
R0762:Plbd1	UTSW	6	136641147	missense	probably damaging	1.00
R1019:Plbd1	UTSW	6	136651905	missense	probably benign	0.03
R1456:Plbd1	UTSW	6	136613816	missense	probably benign	0.12
R1607:Plbd1	UTSW	6	136612306	missense	probably benign	0.04
R2166:Plbd1	UTSW	6	136613790	critical splice donor site	probably null
R2909:Plbd1	UTSW	6	136634574	missense	probably damaging	1.00
R4494:Plbd1	UTSW	6	136613858	missense	probably damaging	1.00
R4529:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R4530:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R5206:Plbd1	UTSW	6	136641156	missense	probably benign	0.17
R5272:Plbd1	UTSW	6	136640158	missense	probably damaging	1.00
R5522:Plbd1	UTSW	6	136617300	missense	probably benign	0.31
R5649:Plbd1	UTSW	6	136616989	missense	probably benign	0.01
R5879:Plbd1	UTSW	6	136634505	missense	probably damaging	1.00
R5940:Plbd1	UTSW	6	136613721	intron	probably benign
R6311:Plbd1	UTSW	6	136613947	missense	probably benign	0.09
R6590:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6657:Plbd1	UTSW	6	136617252	missense	probably damaging	0.99
R6690:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6842:Plbd1	UTSW	6	136635614	missense	probably benign	0.05
R6938:Plbd1	UTSW	6	136616987	missense	probably benign	0.00
R7000:Plbd1	UTSW	6	136612838	missense	probably benign	0.21
R7214:Plbd1	UTSW	6	136612831	missense	probably damaging	1.00
R7654:Plbd1	UTSW	6	136651866	missense	possibly damaging	0.47
R7744:Plbd1	UTSW	6	136617246	missense	probably benign	0.00
R7870:Plbd1	UTSW	6	136617328	missense	possibly damaging	0.81
R7953:Plbd1	UTSW	6	136617328	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACCCAAGTTGACCATGTACCCAGG -3'
(R):5'- AACTATGGGGCTGTATCCCCAGAG -3'

Sequencing Primer
(F):5'- ACCATGTACCCAGGATGGC -3'
(R):5'- ccgtccataactctagcacc -3'

Posted On

2014-04-24