Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Plbd1'

713741

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136589068-136638926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136611555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 241 (N241Y)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032336
AA Change: N241Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: N241Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Plbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Plbd1	APN	6	136,611,468 (GRCm39)	missense	probably benign
IGL02131:Plbd1	APN	6	136,638,681 (GRCm39)	utr 5 prime	probably benign
R0355:Plbd1	UTSW	6	136,618,165 (GRCm39)	missense	possibly damaging	0.71
R0762:Plbd1	UTSW	6	136,618,145 (GRCm39)	missense	probably damaging	1.00
R1019:Plbd1	UTSW	6	136,628,903 (GRCm39)	missense	probably benign	0.03
R1456:Plbd1	UTSW	6	136,590,814 (GRCm39)	missense	probably benign	0.12
R1607:Plbd1	UTSW	6	136,589,304 (GRCm39)	missense	probably benign	0.04
R1640:Plbd1	UTSW	6	136,617,123 (GRCm39)	missense	probably benign	0.00
R2166:Plbd1	UTSW	6	136,590,788 (GRCm39)	critical splice donor site	probably null
R2909:Plbd1	UTSW	6	136,611,572 (GRCm39)	missense	probably damaging	1.00
R4494:Plbd1	UTSW	6	136,590,856 (GRCm39)	missense	probably damaging	1.00
R4529:Plbd1	UTSW	6	136,628,823 (GRCm39)	missense	probably benign	0.04
R4530:Plbd1	UTSW	6	136,628,823 (GRCm39)	missense	probably benign	0.04
R5206:Plbd1	UTSW	6	136,618,154 (GRCm39)	missense	probably benign	0.17
R5272:Plbd1	UTSW	6	136,617,156 (GRCm39)	missense	probably damaging	1.00
R5522:Plbd1	UTSW	6	136,594,298 (GRCm39)	missense	probably benign	0.31
R5649:Plbd1	UTSW	6	136,593,987 (GRCm39)	missense	probably benign	0.01
R5879:Plbd1	UTSW	6	136,611,503 (GRCm39)	missense	probably damaging	1.00
R5940:Plbd1	UTSW	6	136,590,719 (GRCm39)	intron	probably benign
R6311:Plbd1	UTSW	6	136,590,945 (GRCm39)	missense	probably benign	0.09
R6590:Plbd1	UTSW	6	136,612,598 (GRCm39)	missense	probably damaging	1.00
R6657:Plbd1	UTSW	6	136,594,250 (GRCm39)	missense	probably damaging	0.99
R6690:Plbd1	UTSW	6	136,612,598 (GRCm39)	missense	probably damaging	1.00
R6842:Plbd1	UTSW	6	136,612,612 (GRCm39)	missense	probably benign	0.05
R6938:Plbd1	UTSW	6	136,593,985 (GRCm39)	missense	probably benign	0.00
R7000:Plbd1	UTSW	6	136,589,836 (GRCm39)	missense	probably benign	0.21
R7214:Plbd1	UTSW	6	136,589,829 (GRCm39)	missense	probably damaging	1.00
R7654:Plbd1	UTSW	6	136,628,864 (GRCm39)	missense	possibly damaging	0.47
R7744:Plbd1	UTSW	6	136,594,244 (GRCm39)	missense	probably benign	0.00
R7870:Plbd1	UTSW	6	136,594,326 (GRCm39)	missense	possibly damaging	0.81
R9275:Plbd1	UTSW	6	136,594,286 (GRCm39)	missense	probably damaging	0.99
R9498:Plbd1	UTSW	6	136,589,244 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TTCCAGCTAACTTCGGATTACC -3'
(R):5'- GCAGAAGGACAGTCTGTGTTG -3'

Sequencing Primer
(F):5'- GCTAACTTCGGATTACCAATGTTTC -3'
(R):5'- CACTCATCGGGTAAAAGGCTCTTG -3'

Posted On

2022-06-15