Mutagenetix > Incidental Mutations

Incidental Mutation 'R0462:Pafah1b1'

41405

Institutional Source

Beutler Lab

Gene Symbol

Pafah1b1

Ensembl Gene

ENSMUSG00000020745

Gene Name

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

Synonyms

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

MMRRC Submission

038662-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0462 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

74673949-74724670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74677715 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000099578 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021091
AA Change: V396A

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

SMART Domains

Protein: ENSMUSP00000021091
Gene: ENSMUSG00000020745
AA Change: V396A

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: ENSMUST00000102520
AA Change: V396A

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

SMART Domains

Protein: ENSMUSP00000099578
Gene: ENSMUSG00000020745
AA Change: V396A

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

noncoding transcript
Transcript: ENSMUST00000126341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156794

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,661,749		probably benign	Het
1700022I11Rik	T	A	4: 42,973,429	F921I	probably benign	Het
9530053A07Rik	A	T	7: 28,137,340	D228V	probably damaging	Het
Aarsd1	A	T	11: 101,414,091	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084		probably null	Het
Acot10	T	G	15: 20,666,626	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,534,214		probably null	Het
Alkbh7	G	A	17: 56,998,443	V87I	probably benign	Het
Ano2	A	T	6: 125,712,275	H121L	probably benign	Het
Apob	A	T	12: 8,000,896	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,459,960	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,941,973	T191S	possibly damaging	Het
Btbd9	A	T	17: 30,530,217	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,124,024	R25C	probably damaging	Het
Carmil1	T	C	13: 24,022,511	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,885	R226G	probably damaging	Het
Cdh3	A	G	8: 106,555,380	N800S	possibly damaging	Het
Cep152	A	T	2: 125,583,934	V837E	possibly damaging	Het
Cep85	G	A	4: 134,131,421	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,186,713	E104G	probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,436,741	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044	F233L	probably benign	Het
Cpne5	T	C	17: 29,176,189	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,285,173	P485L	probably damaging	Het
Dimt1	T	C	13: 106,948,756	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,303,098	*383W	probably null	Het
Dnah2	G	A	11: 69,459,201	R2369C	probably damaging	Het
Dock2	A	G	11: 34,268,052	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,066,462	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,349	I720T	probably benign	Het
Eps8	A	T	6: 137,514,311	D356E	probably benign	Het
Exoc1	A	G	5: 76,543,617	N263D	probably benign	Het
Fam173b	T	C	15: 31,616,872	M161T	probably damaging	Het
Fbxl3	T	C	14: 103,082,886	D375G	probably damaging	Het
Flg2	A	T	3: 93,201,437	E257D	probably benign	Het
Fstl4	A	G	11: 53,186,402	D662G	probably benign	Het
Gbp10	G	T	5: 105,218,524	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,013,519	P15S	probably damaging	Het
Gm14124	A	G	2: 150,269,202	E604G	possibly damaging	Het
Grhl2	A	G	15: 37,344,675	M514V	probably benign	Het
Hgs	A	G	11: 120,479,144	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,303,610	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,402,600	D623G	probably damaging	Het
Kif1bp	A	T	10: 62,559,456	I469N	probably damaging	Het
Matk	G	T	10: 81,259,693	V116F	probably damaging	Het
Mcm3	T	C	1: 20,805,332	T694A	probably benign	Het
Mctp1	C	A	13: 76,801,401	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743	I313K	probably benign	Het
Muc4	T	A	16: 32,762,536	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,221,732	I999F	probably damaging	Het
Olfr128	A	T	17: 37,923,776	D70V	probably damaging	Het
Olfr1375	A	G	11: 51,048,509	Y134C	probably damaging	Het
Olfr68	A	T	7: 103,777,563	S261T	probably benign	Het
Olfr749	T	A	14: 50,737,097	I22L	probably benign	Het
Olfr834	A	T	9: 18,988,902	I305F	probably benign	Het
Olfr965	T	A	9: 39,719,410	F61Y	probably benign	Het
Pard6b	T	A	2: 168,087,547	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,160	S133G	probably damaging	Het
Plcg2	T	G	8: 117,585,305	S445R	probably benign	Het
Plekhd1	G	T	12: 80,721,578	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,866,557	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,222,960		probably null	Het
Prr22	A	G	17: 56,770,551		probably benign	Het
Psme4	A	G	11: 30,848,117	D1370G	probably damaging	Het
Rac3	T	A	11: 120,722,858	V86D	probably damaging	Het
Rnf207	T	C	4: 152,313,372	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,036,977	L103P	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,794,731	C17F	probably benign	Het
Spen	A	T	4: 141,473,651	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,518,426	T564K	probably damaging	Het
Stard4	C	T	18: 33,205,149	R116H	probably damaging	Het
Supt7l	A	T	5: 31,520,296	S175R	probably damaging	Het
Sycp1	A	T	3: 102,819,106	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,711,178	M251V	probably benign	Het
Tbx15	A	T	3: 99,316,318	E274V	probably damaging	Het
Tex52	A	G	6: 128,384,954	E298G	probably benign	Het
Tmem101	T	C	11: 102,155,867	M59V	probably benign	Het
Tmem132b	T	C	5: 125,785,926	V665A	probably damaging	Het
Trim23	T	C	13: 104,198,033	V347A	probably damaging	Het
Ush2a	A	G	1: 188,910,939	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,590,169	V406L	probably benign	Het
Vrk3	A	G	7: 44,764,200	D166G	possibly damaging	Het
Washc4	T	A	10: 83,556,913	M259K	probably benign	Het
Wdr70	T	C	15: 8,079,161	D167G	probably benign	Het
Zfp28	A	T	7: 6,392,240	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,890,406	I510T	probably benign	Het
Zfp710	T	A	7: 80,090,341	*646R	probably null	Het
Zfp90	C	T	8: 106,425,260	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,568,734	T119I	possibly damaging	Het

Other mutations in Pafah1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pafah1b1	APN	11	74683647	missense	probably damaging	1.00
IGL01861:Pafah1b1	APN	11	74690577	missense	possibly damaging	0.81
IGL02082:Pafah1b1	APN	11	74699333	missense	probably benign	0.33
IGL03180:Pafah1b1	APN	11	74683518	missense	possibly damaging	0.80
hotspur	UTSW	11	74682272	missense	probably benign	0.02
picador	UTSW	11	74677731	missense	probably benign
R0362:Pafah1b1	UTSW	11	74683631	missense	probably benign	0.01
R1962:Pafah1b1	UTSW	11	74699351	start gained	probably benign
R3176:Pafah1b1	UTSW	11	74690232	missense	probably damaging	1.00
R3276:Pafah1b1	UTSW	11	74690232	missense	probably damaging	1.00
R3615:Pafah1b1	UTSW	11	74690232	missense	probably damaging	1.00
R3616:Pafah1b1	UTSW	11	74690232	missense	probably damaging	1.00
R4326:Pafah1b1	UTSW	11	74682240	missense	probably benign	0.04
R4327:Pafah1b1	UTSW	11	74682240	missense	probably benign	0.04
R4328:Pafah1b1	UTSW	11	74682240	missense	probably benign	0.04
R4776:Pafah1b1	UTSW	11	74685871	unclassified	probably benign
R4985:Pafah1b1	UTSW	11	74685988	missense	probably damaging	1.00
R5128:Pafah1b1	UTSW	11	74679436	intron	probably benign
R5148:Pafah1b1	UTSW	11	74684452	missense	probably damaging	0.99
R6406:Pafah1b1	UTSW	11	74682272	missense	probably benign	0.02
R6437:Pafah1b1	UTSW	11	74677731	missense	probably benign
R7229:Pafah1b1	UTSW	11	74682278	missense	probably damaging	0.99
R7480:Pafah1b1	UTSW	11	74685914	missense	probably damaging	1.00
R8115:Pafah1b1	UTSW	11	74684493	missense	probably damaging	1.00
X0064:Pafah1b1	UTSW	11	74689183	missense	possibly damaging	0.62
Z1176:Pafah1b1	UTSW	11	74689119	missense	probably benign	0.01
Z1176:Pafah1b1	UTSW	11	74690241	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGAGGCCATCAAGTCAGGCAC -3'
(R):5'- TCATAGACTCCCAGAGCTTGGGAAG -3'

Sequencing Primer
(F):5'- TGGTGTGACCAATGCCAG -3'
(R):5'- AGCTTGGGAAGCTGACCTG -3'

Posted On

2013-05-23