Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Pbld2'

25212

Institutional Source

Beutler Lab

Gene Symbol

Pbld2

Ensembl Gene

ENSMUSG00000020072

Gene Name

phenazine biosynthesis-like protein domain containing 2

Synonyms

3110049J23Rik

MMRRC Submission

038521-MU

Accession Numbers

Genbank: NM_026085 ; MGI: 1914557

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63024315-63058813 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 63054507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020262] [ENSMUST00000124784]

AlphaFold

Q9CXN7

Predicted Effect

probably null
Transcript: ENSMUST00000020262

SMART Domains

Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	8	284	2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124784

SMART Domains

Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	69	175	1.5e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155982

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	Het

Other mutations in Pbld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Pbld2	APN	10	63071955	missense	probably benign	0.01
IGL02162:Pbld2	APN	10	63071400	splice site	probably benign
IGL03206:Pbld2	APN	10	63047482	missense	probably benign	0.06
R0366:Pbld2	UTSW	10	63053957	unclassified	probably benign
R0727:Pbld2	UTSW	10	63067519	missense	probably benign	0.03
R0731:Pbld2	UTSW	10	63056811	missense	probably damaging	1.00
R1412:Pbld2	UTSW	10	63047522	missense	probably damaging	1.00
R1523:Pbld2	UTSW	10	63076433	missense	probably benign	0.01
R1531:Pbld2	UTSW	10	63053953	critical splice donor site	probably null
R1773:Pbld2	UTSW	10	63054371	missense	probably benign	0.03
R1778:Pbld2	UTSW	10	63054371	missense	probably benign	0.03
R1797:Pbld2	UTSW	10	63075124	critical splice donor site	probably null
R2251:Pbld2	UTSW	10	63024605	unclassified	probably benign
R3036:Pbld2	UTSW	10	63071446	missense	probably damaging	1.00
R3117:Pbld2	UTSW	10	63054436	missense	probably benign	0.00
R3622:Pbld2	UTSW	10	63061691	missense	probably damaging	0.97
R3624:Pbld2	UTSW	10	63061691	missense	probably damaging	0.97
R3734:Pbld2	UTSW	10	63071465	missense	probably damaging	1.00
R4260:Pbld2	UTSW	10	63024407	unclassified	probably benign
R4684:Pbld2	UTSW	10	63057697	missense	probably damaging	1.00
R4928:Pbld2	UTSW	10	63047999	missense	probably damaging	1.00
R4936:Pbld2	UTSW	10	63052238	missense	probably damaging	1.00
R5508:Pbld2	UTSW	10	63066665	splice site	probably null
R5596:Pbld2	UTSW	10	63072012	missense	probably damaging	1.00
R5603:Pbld2	UTSW	10	63071449	missense	probably benign
R6298:Pbld2	UTSW	10	63039152	missense	probably benign	0.05
R6404:Pbld2	UTSW	10	63054328	missense	probably damaging	0.98
R7089:Pbld2	UTSW	10	63053912	missense	probably benign	0.23
R7134:Pbld2	UTSW	10	63024589	unclassified	probably benign
R7423:Pbld2	UTSW	10	63048004	missense	probably damaging	1.00
R8016:Pbld2	UTSW	10	63047965	missense	probably damaging	1.00
R8039:Pbld2	UTSW	10	63047992	missense	probably damaging	1.00
R8119:Pbld2	UTSW	10	63053877	missense	probably benign	0.34
R8281:Pbld2	UTSW	10	63048026	missense	probably damaging	1.00
R8747:Pbld2	UTSW	10	63052290	missense	probably benign	0.07
YA93:Pbld2	UTSW	10	63054445	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTCTCCAAAGCATGGCTTCCC -3'
(R):5'- GCTCACTATCTTGACAGTGTGCCC -3'

Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- GACAGTGTGCCCTCTTCTG -3'

Posted On

2013-04-16