Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Pbld2'

550094

Institutional Source

Beutler Lab

Gene Symbol

Pbld2

Ensembl Gene

ENSMUSG00000020072

Gene Name

phenazine biosynthesis-like protein domain containing 2

Synonyms

3110049J23Rik

MMRRC Submission

045183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62860094-62894592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62889691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 158 (T158A)

Ref Sequence

ENSEMBL: ENSMUSP00000020262 (fasta)

Gene Model

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

AlphaFold

Q9CXN7

Predicted Effect

probably benign
Transcript: ENSMUST00000020262
AA Change: T158A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: T158A

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

Meta Mutation Damage Score

0.1206

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,927 (GRCm39)	V494A	probably benign	Het
1700017B05Rik	A	T	9: 57,166,041 (GRCm39)	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,977,424 (GRCm39)	I640L	possibly damaging	Het
Afdn	T	G	17: 14,111,074 (GRCm39)		probably null	Het
Ammecr1l	A	T	18: 31,894,877 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,375,808 (GRCm39)	Y879F	probably benign	Het
Arhgap45	G	A	10: 79,862,181 (GRCm39)		probably null	Het
Arpp21	G	T	9: 111,955,514 (GRCm39)	H542N	probably benign	Het
Ccdc192	C	T	18: 57,725,059 (GRCm39)	T96I	probably benign	Het
Cdt1	G	A	8: 123,298,719 (GRCm39)	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,372,667 (GRCm39)	H149Y		Het
Clpp	T	G	17: 57,297,421 (GRCm39)	W32G	probably benign	Het
Dnmt1	G	T	9: 20,819,785 (GRCm39)	L1572M	probably damaging	Het
Drd3	G	T	16: 43,627,741 (GRCm39)	R128S	probably damaging	Het
Elmo2	A	T	2: 165,146,849 (GRCm39)	F243I	possibly damaging	Het
Endou	G	A	15: 97,618,126 (GRCm39)	P128L	probably benign	Het
Fat3	A	G	9: 15,908,214 (GRCm39)	M2596T	probably benign	Het
Fbxl16	A	G	17: 26,035,703 (GRCm39)	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230 (GRCm39)	S99P	possibly damaging	Het
Fez1	A	T	9: 36,778,999 (GRCm39)	R225S	probably benign	Het
Gm14326	A	T	2: 177,588,464 (GRCm39)	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,054,546 (GRCm39)	M1360L	probably benign	Het
Hspg2	T	C	4: 137,271,677 (GRCm39)	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,223,283 (GRCm39)	K101E	probably benign	Het
Il15	A	T	8: 83,064,204 (GRCm39)	S77R	probably damaging	Het
Ints13	T	C	6: 146,476,216 (GRCm39)	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,819,929 (GRCm39)	P357S	probably benign	Het
Kcmf1	G	T	6: 72,825,289 (GRCm39)	T268K	probably benign	Het
Kmt2d	A	T	15: 98,748,153 (GRCm39)	I3057N	unknown	Het
Lgi2	A	G	5: 52,695,832 (GRCm39)	F376L	probably damaging	Het
Lrig3	T	G	10: 125,832,993 (GRCm39)	L289R	probably damaging	Het
Mafk	A	G	5: 139,785,876 (GRCm39)	S25G	probably benign	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Nalcn	A	C	14: 123,515,761 (GRCm39)	I1680R	probably benign	Het
Or13d1	C	T	4: 52,971,470 (GRCm39)	P283L	probably damaging	Het
Or5ak24	T	A	2: 85,260,902 (GRCm39)	K90N	probably benign	Het
Or5g26	C	T	2: 85,494,518 (GRCm39)	V87M	possibly damaging	Het
Or5p62	A	T	7: 107,771,701 (GRCm39)	N83K	probably benign	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,259,614 (GRCm39)	Y198H	probably damaging	Het
P3h2	T	A	16: 25,784,559 (GRCm39)	N645I	probably damaging	Het
Pdgfrb	C	T	18: 61,206,315 (GRCm39)	R608C	probably damaging	Het
Pdia5	T	C	16: 35,228,049 (GRCm39)	T408A	probably benign	Het
Pik3cg	A	G	12: 32,226,845 (GRCm39)	V1014A	probably benign	Het
Prpf8	A	G	11: 75,399,374 (GRCm39)	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,551,742 (GRCm39)	Y245*	probably null	Het
Rerg	T	C	6: 137,044,033 (GRCm39)	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,249,216 (GRCm39)	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,353,873 (GRCm39)	V78I	probably damaging	Het
Ryr2	A	C	13: 11,664,662 (GRCm39)	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,314,770 (GRCm39)	Q324K	probably benign	Het
Serpinb6e	G	A	13: 34,016,698 (GRCm39)	T345I	probably damaging	Het
Smchd1	T	C	17: 71,668,955 (GRCm39)	T1687A	probably benign	Het
Smim45	A	T	15: 82,136,774 (GRCm39)		probably benign	Het
Speer4f2	A	C	5: 17,581,661 (GRCm39)	H201P		Het
Spef2	G	A	15: 9,725,257 (GRCm39)	R167C	probably damaging	Het
Srp68	A	G	11: 116,162,733 (GRCm39)		probably null	Het
Tbc1d14	A	T	5: 36,669,884 (GRCm39)	F455I	probably benign	Het
Tet3	A	G	6: 83,432,006 (GRCm39)	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,850,810 (GRCm39)	S696T	probably benign	Het
Tmem63b	T	C	17: 45,978,709 (GRCm39)	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,637,150 (GRCm39)	I328M	probably damaging	Het
Tpm3	C	T	3: 89,980,029 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,758,833 (GRCm39)	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,613,265 (GRCm39)	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,507,204 (GRCm39)	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,656,100 (GRCm39)	T770A		Het
Zcchc2	C	A	1: 105,958,211 (GRCm39)	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,303,229 (GRCm39)	V1585A	probably benign	Het

Other mutations in Pbld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Pbld2	APN	10	62,907,734 (GRCm39)	missense	probably benign	0.01
IGL02162:Pbld2	APN	10	62,907,179 (GRCm39)	splice site	probably benign
IGL03206:Pbld2	APN	10	62,883,261 (GRCm39)	missense	probably benign	0.06
R0311:Pbld2	UTSW	10	62,890,286 (GRCm39)	critical splice donor site	probably null
R0366:Pbld2	UTSW	10	62,889,736 (GRCm39)	unclassified	probably benign
R0727:Pbld2	UTSW	10	62,903,298 (GRCm39)	missense	probably benign	0.03
R0731:Pbld2	UTSW	10	62,892,590 (GRCm39)	missense	probably damaging	1.00
R1412:Pbld2	UTSW	10	62,883,301 (GRCm39)	missense	probably damaging	1.00
R1523:Pbld2	UTSW	10	62,912,212 (GRCm39)	missense	probably benign	0.01
R1531:Pbld2	UTSW	10	62,889,732 (GRCm39)	critical splice donor site	probably null
R1773:Pbld2	UTSW	10	62,890,150 (GRCm39)	missense	probably benign	0.03
R1778:Pbld2	UTSW	10	62,890,150 (GRCm39)	missense	probably benign	0.03
R1797:Pbld2	UTSW	10	62,910,903 (GRCm39)	critical splice donor site	probably null
R2251:Pbld2	UTSW	10	62,860,384 (GRCm39)	unclassified	probably benign
R3036:Pbld2	UTSW	10	62,907,225 (GRCm39)	missense	probably damaging	1.00
R3117:Pbld2	UTSW	10	62,890,215 (GRCm39)	missense	probably benign	0.00
R3622:Pbld2	UTSW	10	62,897,470 (GRCm39)	missense	probably damaging	0.97
R3624:Pbld2	UTSW	10	62,897,470 (GRCm39)	missense	probably damaging	0.97
R3734:Pbld2	UTSW	10	62,907,244 (GRCm39)	missense	probably damaging	1.00
R4260:Pbld2	UTSW	10	62,860,186 (GRCm39)	unclassified	probably benign
R4684:Pbld2	UTSW	10	62,893,476 (GRCm39)	missense	probably damaging	1.00
R4928:Pbld2	UTSW	10	62,883,778 (GRCm39)	missense	probably damaging	1.00
R4936:Pbld2	UTSW	10	62,888,017 (GRCm39)	missense	probably damaging	1.00
R5508:Pbld2	UTSW	10	62,902,444 (GRCm39)	splice site	probably null
R5596:Pbld2	UTSW	10	62,907,791 (GRCm39)	missense	probably damaging	1.00
R5603:Pbld2	UTSW	10	62,907,228 (GRCm39)	missense	probably benign
R6298:Pbld2	UTSW	10	62,874,931 (GRCm39)	missense	probably benign	0.05
R6404:Pbld2	UTSW	10	62,890,107 (GRCm39)	missense	probably damaging	0.98
R7134:Pbld2	UTSW	10	62,860,368 (GRCm39)	unclassified	probably benign
R7423:Pbld2	UTSW	10	62,883,783 (GRCm39)	missense	probably damaging	1.00
R8016:Pbld2	UTSW	10	62,883,744 (GRCm39)	missense	probably damaging	1.00
R8039:Pbld2	UTSW	10	62,883,771 (GRCm39)	missense	probably damaging	1.00
R8119:Pbld2	UTSW	10	62,889,656 (GRCm39)	missense	probably benign	0.34
R8281:Pbld2	UTSW	10	62,883,805 (GRCm39)	missense	probably damaging	1.00
R8747:Pbld2	UTSW	10	62,888,069 (GRCm39)	missense	probably benign	0.07
YA93:Pbld2	UTSW	10	62,890,224 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGACTGAGTCATGGCCCTGAG -3'
(R):5'- AAAGGAGACCCTGCCCTGAC -3'

Sequencing Primer
(F):5'- ACATTTGCTACTAGCCGAGG -3'
(R):5'- CTGATCTACACAGTGAGTTCCAGG -3'

Posted On

2019-05-15