Mutagenetix > Incidental Mutation

Incidental Mutation 'R7480:Pafah1b1'

579757

Institutional Source

Beutler Lab

Gene Symbol

Pafah1b1

Ensembl Gene

ENSMUSG00000020745

Gene Name

platelet-activating factor acetylhydrolase, isoform 1b, subunit 1

Synonyms

lissencephaly-1 protein, PAF-AH 45, Pafaha, Mdsh, Lis1, LIS-1

MMRRC Submission

045554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74564775-74615210 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74576740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 184 (C184G)

Ref Sequence

ENSEMBL: ENSMUSP00000021091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021091] [ENSMUST00000102520] [ENSMUST00000155493]

AlphaFold

P63005

PDB Structure

N-TERMINAL DOMAIN OF LISSENCEPHALY-1 PROTEIN (LIS-1) [X-RAY DIFFRACTION]
PAF-AH HOLOENZYME: LIS1/ALFA2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021091
AA Change: C184G

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

SMART Domains

Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745
AA Change: C184G

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102520
AA Change: C184G

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

SMART Domains

Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745
AA Change: C184G

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART
WD40	97	136	2.1e-7	SMART
WD40	139	178	9.73e-12	SMART
WD40	181	220	1.1e-10	SMART
WD40	223	262	9.3e-9	SMART
WD40	265	324	4.65e-9	SMART
WD40	327	366	4.11e-10	SMART
WD40	369	408	8.81e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155493

SMART Domains

Protein: ENSMUSP00000118231
Gene: ENSMUSG00000020745

Domain	Start	End	E-Value	Type
LisH	7	39	6.12e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	T	G	9: 50,733,928 (GRCm39)	M542R	probably benign	Het
Apol10b	G	T	15: 77,472,988 (GRCm39)	A22D	probably benign	Het
Arhgap45	T	A	10: 79,862,936 (GRCm39)	L704*	probably null	Het
Bicc1	T	C	10: 70,779,306 (GRCm39)	D694G	probably damaging	Het
C1ql3	A	T	2: 13,015,150 (GRCm39)	I170N	probably damaging	Het
Casz1	T	C	4: 149,029,043 (GRCm39)	F1163L	probably damaging	Het
Ces2f	A	G	8: 105,681,338 (GRCm39)	K559R	possibly damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Cr2	C	T	1: 194,836,484 (GRCm39)	C893Y	probably damaging	Het
Csf1r	T	G	18: 61,250,610 (GRCm39)	D440E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dapk1	A	G	13: 60,905,311 (GRCm39)	D1007G	probably benign	Het
Dlk1	T	A	12: 109,421,540 (GRCm39)	C85S	probably damaging	Het
Epb41l3	A	C	17: 69,568,867 (GRCm39)		probably null	Het
Eri2	T	A	7: 119,385,734 (GRCm39)	R256*	probably null	Het
Fshr	A	C	17: 89,292,802 (GRCm39)	Y625*	probably null	Het
Galk2	A	G	2: 125,788,845 (GRCm39)	I300V	probably benign	Het
Garin1a	G	A	6: 29,281,435 (GRCm39)		probably null	Het
Gm3409	T	A	5: 146,476,311 (GRCm39)	V154E	probably damaging	Het
Gm7356	A	G	17: 14,221,327 (GRCm39)	I234T	possibly damaging	Het
Gtf3c1	T	C	7: 125,241,713 (GRCm39)	Y1995C	probably benign	Het
Herc6	C	T	6: 57,558,206 (GRCm39)	T62I	possibly damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hmcn1	A	T	1: 150,552,985 (GRCm39)		probably null	Het
Iqca1l	T	G	5: 24,751,904 (GRCm39)	E498A	probably damaging	Het
Jrk	G	T	15: 74,578,902 (GRCm39)	P128T	probably benign	Het
Kctd14	T	C	7: 97,107,431 (GRCm39)	F229L	probably benign	Het
Kif27	A	T	13: 58,436,025 (GRCm39)	V1256E	probably benign	Het
Klk13	T	C	7: 43,370,846 (GRCm39)	S133P	probably benign	Het
Mpzl1	A	G	1: 165,432,257 (GRCm39)	V176A	possibly damaging	Het
Mxi1	A	G	19: 53,360,066 (GRCm39)	T263A	possibly damaging	Het
Nfxl1	C	T	5: 72,716,595 (GRCm39)	W5*	probably null	Het
Nt5dc1	C	T	10: 34,200,450 (GRCm39)	G190R	probably damaging	Het
Nt5dc1	C	A	10: 34,200,449 (GRCm39)	G190V	probably damaging	Het
Oprd1	A	G	4: 131,844,492 (GRCm39)	I172T	possibly damaging	Het
Or1f19	A	T	16: 3,410,493 (GRCm39)	T78S	probably benign	Het
Or4k38	A	G	2: 111,165,737 (GRCm39)	S229P	probably benign	Het
Or6f1	A	G	7: 85,970,888 (GRCm39)	S91P	probably benign	Het
Or7e173	C	T	9: 19,939,230 (GRCm39)	M1I	probably null	Het
Pde5a	A	T	3: 122,596,797 (GRCm39)	N495Y	possibly damaging	Het
Piezo1	A	T	8: 123,225,234 (GRCm39)	Y588*	probably null	Het
Plekha7	A	T	7: 115,736,403 (GRCm39)		probably null	Het
Pramel11	T	C	4: 143,622,065 (GRCm39)	D430G	probably benign	Het
Prdm11	T	C	2: 92,805,669 (GRCm39)	K427R	probably benign	Het
Rai14	C	A	15: 10,571,622 (GRCm39)	E940D	probably benign	Het
Rasl11b	T	A	5: 74,358,771 (GRCm39)	V92E	possibly damaging	Het
Rassf8	T	A	6: 145,765,757 (GRCm39)	I29K	unknown	Het
Reg3a	C	T	6: 78,359,330 (GRCm39)	T110I	probably damaging	Het
Scaf1	C	T	7: 44,657,073 (GRCm39)	G602D	unknown	Het
Senp6	T	C	9: 80,029,199 (GRCm39)	C521R	probably damaging	Het
Senp7	G	A	16: 55,975,589 (GRCm39)	V432I	possibly damaging	Het
Skint8	A	T	4: 111,785,784 (GRCm39)	R77*	probably null	Het
Slamf9	G	A	1: 172,305,040 (GRCm39)	C218Y	probably damaging	Het
Slc8a1	T	C	17: 81,956,649 (GRCm39)	T130A	probably damaging	Het
Smpdl3a	A	G	10: 57,678,574 (GRCm39)	I126V	possibly damaging	Het
Taar9	T	A	10: 23,984,843 (GRCm39)	N197I	possibly damaging	Het
Tango6	A	T	8: 107,423,359 (GRCm39)	D378V	possibly damaging	Het
Tfb2m	A	G	1: 179,356,747 (GRCm39)	F396L	probably benign	Het
Thbs4	G	A	13: 92,903,729 (GRCm39)	P429L	probably benign	Het
Tnxb	A	G	17: 34,934,747 (GRCm39)	D2452G	probably damaging	Het
Ulk3	C	T	9: 57,498,523 (GRCm39)	R131*	probably null	Het
Vmn1r179	A	T	7: 23,628,558 (GRCm39)	R250*	probably null	Het
Vmn1r54	A	G	6: 90,246,160 (GRCm39)	I25V	possibly damaging	Het
Wnt7a	C	A	6: 91,371,395 (GRCm39)	R189L	probably benign	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Xpo6	G	A	7: 125,701,505 (GRCm39)	R1112*	probably null	Het
Zfp114	T	A	7: 23,881,307 (GRCm39)	V552D	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Pafah1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pafah1b1	APN	11	74,574,473 (GRCm39)	missense	probably damaging	1.00
IGL01861:Pafah1b1	APN	11	74,581,403 (GRCm39)	missense	possibly damaging	0.81
IGL02082:Pafah1b1	APN	11	74,590,159 (GRCm39)	missense	probably benign	0.33
IGL03180:Pafah1b1	APN	11	74,574,344 (GRCm39)	missense	possibly damaging	0.80
hotspur	UTSW	11	74,573,098 (GRCm39)	missense	probably benign	0.02
picador	UTSW	11	74,568,557 (GRCm39)	missense	probably benign
R0362:Pafah1b1	UTSW	11	74,574,457 (GRCm39)	missense	probably benign	0.01
R0462:Pafah1b1	UTSW	11	74,568,541 (GRCm39)	missense	probably benign	0.00
R1962:Pafah1b1	UTSW	11	74,590,177 (GRCm39)	start gained	probably benign
R3176:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3276:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3615:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R3616:Pafah1b1	UTSW	11	74,581,058 (GRCm39)	missense	probably damaging	1.00
R4326:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4327:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4328:Pafah1b1	UTSW	11	74,573,066 (GRCm39)	missense	probably benign	0.04
R4776:Pafah1b1	UTSW	11	74,576,697 (GRCm39)	unclassified	probably benign
R4985:Pafah1b1	UTSW	11	74,576,814 (GRCm39)	missense	probably damaging	1.00
R5128:Pafah1b1	UTSW	11	74,570,262 (GRCm39)	intron	probably benign
R5148:Pafah1b1	UTSW	11	74,575,278 (GRCm39)	missense	probably damaging	0.99
R6406:Pafah1b1	UTSW	11	74,573,098 (GRCm39)	missense	probably benign	0.02
R6437:Pafah1b1	UTSW	11	74,568,557 (GRCm39)	missense	probably benign
R7229:Pafah1b1	UTSW	11	74,573,104 (GRCm39)	missense	probably damaging	0.99
R8115:Pafah1b1	UTSW	11	74,575,319 (GRCm39)	missense	probably damaging	1.00
R9042:Pafah1b1	UTSW	11	74,574,493 (GRCm39)	missense	probably benign	0.27
X0064:Pafah1b1	UTSW	11	74,580,009 (GRCm39)	missense	possibly damaging	0.62
Z1176:Pafah1b1	UTSW	11	74,581,067 (GRCm39)	missense	probably damaging	1.00
Z1176:Pafah1b1	UTSW	11	74,579,945 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCGTACAAACCTTAAATGCTCC -3'
(R):5'- GAGAAAAGCCACTTTGTACTTGAAG -3'

Sequencing Primer
(F):5'- CCTTAAATGCTCCTAACAAAAACCTC -3'
(R):5'- CTTTGACCACAGTGGCAA -3'

Posted On

2019-10-07