Mutagenetix > Incidental Mutation

Incidental Mutation 'R9045:Pafah1b3'

720358

Institutional Source

Beutler Lab

Gene Symbol

Pafah1b3

Ensembl Gene

ENSMUSG00000005447

Gene Name

platelet-activating factor acetylhydrolase, isoform 1b, subunit 3

Synonyms

mus[g], Pafahg

MMRRC Submission

068872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9045 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

24994473-24997377 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 24996898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005578] [ENSMUST00000005583] [ENSMUST00000080288] [ENSMUST00000108410] [ENSMUST00000148150] [ENSMUST00000155118] [ENSMUST00000163320] [ENSMUST00000164820] [ENSMUST00000169266]

AlphaFold

Q61205

Predicted Effect

probably benign
Transcript: ENSMUST00000005578

SMART Domains

Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
PDB:4J2L\|D	21	48	6e-12	PDB
low complexity region	106	120	N/A	INTRINSIC
low complexity region	124	138	N/A	INTRINSIC
HMG	199	269	1.24e-17	SMART
low complexity region	415	431	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	508	521	N/A	INTRINSIC
low complexity region	525	555	N/A	INTRINSIC
low complexity region	567	583	N/A	INTRINSIC
low complexity region	645	660	N/A	INTRINSIC
low complexity region	729	740	N/A	INTRINSIC
low complexity region	782	803	N/A	INTRINSIC
low complexity region	837	859	N/A	INTRINSIC
low complexity region	939	951	N/A	INTRINSIC
low complexity region	1065	1080	N/A	INTRINSIC
low complexity region	1118	1132	N/A	INTRINSIC
low complexity region	1135	1155	N/A	INTRINSIC
low complexity region	1223	1253	N/A	INTRINSIC
low complexity region	1280	1313	N/A	INTRINSIC
low complexity region	1405	1418	N/A	INTRINSIC
low complexity region	1483	1494	N/A	INTRINSIC
low complexity region	1524	1547	N/A	INTRINSIC
low complexity region	1568	1603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000005583

SMART Domains

Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL_2	12	203	3.8e-13	PFAM
Pfam:Lipase_GDSL	42	209	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080288

SMART Domains

Protein: ENSMUSP00000104047
Gene: ENSMUSG00000058741

Domain	Start	End	E-Value	Type
Pfam:Pro-rich_19	1	366	3.3e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108410

SMART Domains

Protein: ENSMUSP00000104048
Gene: ENSMUSG00000005447

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL_2	4	151	1.2e-23	PFAM
low complexity region	155	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148150

SMART Domains

Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL_2	43	143	5.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155118

SMART Domains

Protein: ENSMUSP00000120379
Gene: ENSMUSG00000005447

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL_2	43	149	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163320

SMART Domains

Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
PDB:4J2L\|D	21	48	6e-12	PDB
low complexity region	106	120	N/A	INTRINSIC
low complexity region	124	138	N/A	INTRINSIC
HMG	199	269	1.24e-17	SMART
low complexity region	415	431	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	508	521	N/A	INTRINSIC
low complexity region	525	555	N/A	INTRINSIC
low complexity region	567	583	N/A	INTRINSIC
low complexity region	645	660	N/A	INTRINSIC
low complexity region	729	740	N/A	INTRINSIC
low complexity region	782	803	N/A	INTRINSIC
low complexity region	837	859	N/A	INTRINSIC
low complexity region	939	951	N/A	INTRINSIC
low complexity region	1064	1079	N/A	INTRINSIC
low complexity region	1117	1131	N/A	INTRINSIC
low complexity region	1134	1154	N/A	INTRINSIC
low complexity region	1222	1252	N/A	INTRINSIC
low complexity region	1279	1312	N/A	INTRINSIC
low complexity region	1405	1418	N/A	INTRINSIC
low complexity region	1483	1494	N/A	INTRINSIC
low complexity region	1524	1547	N/A	INTRINSIC
low complexity region	1568	1603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163901

SMART Domains

Protein: ENSMUSP00000127858
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	114	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164820

SMART Domains

Protein: ENSMUSP00000130146
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169266

SMART Domains

Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
low complexity region	33	73	N/A	INTRINSIC
low complexity region	151	165	N/A	INTRINSIC
Pfam:DUF4819	249	346	1.8e-23	PFAM
low complexity region	351	367	N/A	INTRINSIC
low complexity region	403	427	N/A	INTRINSIC
low complexity region	445	457	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC
low complexity region	618	633	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	724	734	N/A	INTRINSIC
low complexity region	740	751	N/A	INTRINSIC
low complexity region	779	786	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC
low complexity region	898	911	N/A	INTRINSIC
PDB:4J2L\|D	930	955	5e-10	PDB
low complexity region	1013	1027	N/A	INTRINSIC
low complexity region	1031	1045	N/A	INTRINSIC
HMG	1106	1176	1.24e-17	SMART
low complexity region	1322	1338	N/A	INTRINSIC
low complexity region	1380	1393	N/A	INTRINSIC
low complexity region	1415	1428	N/A	INTRINSIC
low complexity region	1432	1462	N/A	INTRINSIC
low complexity region	1474	1490	N/A	INTRINSIC
low complexity region	1552	1567	N/A	INTRINSIC
low complexity region	1636	1647	N/A	INTRINSIC
low complexity region	1689	1710	N/A	INTRINSIC
low complexity region	1744	1766	N/A	INTRINSIC
low complexity region	1846	1858	N/A	INTRINSIC
low complexity region	1971	1986	N/A	INTRINSIC
low complexity region	2024	2038	N/A	INTRINSIC
low complexity region	2041	2061	N/A	INTRINSIC
low complexity region	2129	2159	N/A	INTRINSIC
low complexity region	2186	2219	N/A	INTRINSIC
low complexity region	2311	2324	N/A	INTRINSIC
low complexity region	2389	2400	N/A	INTRINSIC
low complexity region	2430	2453	N/A	INTRINSIC
low complexity region	2474	2509	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice of both sexes are viable and fertile. However, in combination with homozygous disruptions in Pafah1b2, males become infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	C	8: 33,919,362 (GRCm39)	M61L		Het
9130401M01Rik	G	T	15: 57,892,130 (GRCm39)	A223E	possibly damaging	Het
Adgra1	T	G	7: 139,432,566 (GRCm39)	L135V	possibly damaging	Het
Aida	A	G	1: 183,094,940 (GRCm39)	E127G	possibly damaging	Het
Ankrd31	T	A	13: 96,968,034 (GRCm39)	L557*	probably null	Het
Atxn7l3	T	A	11: 102,183,272 (GRCm39)	T221S	probably damaging	Het
Bbs7	A	G	3: 36,666,184 (GRCm39)	S27P	probably benign	Het
Cela3b	A	T	4: 137,152,110 (GRCm39)	C116S	possibly damaging	Het
Clstn3	A	C	6: 124,408,921 (GRCm39)	M909R	probably damaging	Het
Cnot2	T	C	10: 116,322,160 (GRCm39)	E523G	probably benign	Het
Col12a1	T	A	9: 79,582,034 (GRCm39)	T1406S	probably benign	Het
Cr2	A	T	1: 194,837,680 (GRCm39)	N763K	possibly damaging	Het
Csmd1	A	G	8: 16,284,088 (GRCm39)	F557L	probably damaging	Het
Cyth1	T	C	11: 118,073,090 (GRCm39)	H270R	possibly damaging	Het
Epg5	T	C	18: 77,992,014 (GRCm39)	L237P	probably damaging	Het
Fbxo36	G	A	1: 84,874,300 (GRCm39)	D99N	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,856 (GRCm39)	C1607S	probably damaging	Het
Flot2	A	G	11: 77,950,023 (GRCm39)	I417M	probably benign	Het
Fryl	A	G	5: 73,182,118 (GRCm39)	L143P		Het
Gckr	A	G	5: 31,457,353 (GRCm39)	N122S	possibly damaging	Het
Gm3250	T	A	10: 77,617,932 (GRCm39)	T149S	unknown	Het
Golga3	G	A	5: 110,340,963 (GRCm39)	M552I	probably benign	Het
Grip1	T	A	10: 119,871,356 (GRCm39)	D694E	probably damaging	Het
Heatr1	T	C	13: 12,428,233 (GRCm39)	V790A	probably benign	Het
Ighv1-54	G	A	12: 115,157,500 (GRCm39)	T49I	probably benign	Het
Iglv1	A	G	16: 18,904,053 (GRCm39)	V22A	probably benign	Het
Lama1	A	T	17: 68,060,838 (GRCm39)	Y722F		Het
Laptm5	A	T	4: 130,655,955 (GRCm39)	E91V		Het
Lrig1	A	G	6: 94,585,688 (GRCm39)		probably null	Het
Mcph1	T	G	8: 18,682,443 (GRCm39)	S527A	probably benign	Het
Med13l	G	T	5: 118,880,816 (GRCm39)	V1303L	probably benign	Het
Mindy4	A	G	6: 55,295,283 (GRCm39)	D741G	probably benign	Het
Myo15b	T	A	11: 115,783,178 (GRCm39)	*3034R	probably null	Het
Nfkbie	A	T	17: 45,872,959 (GRCm39)	K354I	probably damaging	Het
Npat	A	G	9: 53,474,776 (GRCm39)	N856S	possibly damaging	Het
Nr2c2ap	A	G	8: 70,585,808 (GRCm39)	D122G	probably damaging	Het
Nr4a3	C	A	4: 48,067,694 (GRCm39)	T430K	possibly damaging	Het
Or12e10	C	A	2: 87,640,416 (GRCm39)	S84Y	probably damaging	Het
Or52ab4	T	G	7: 102,987,903 (GRCm39)	I214R	probably damaging	Het
Or5h25	A	G	16: 58,930,365 (GRCm39)	S203P	probably benign	Het
Otud7b	A	G	3: 96,059,895 (GRCm39)	K397E	probably benign	Het
Pcdhgc3	G	T	18: 37,940,669 (GRCm39)	V357L	probably damaging	Het
Pde2a	A	G	7: 101,152,498 (GRCm39)	T354A	unknown	Het
Pira12	A	G	7: 3,897,547 (GRCm39)	I516T	possibly damaging	Het
Rbfa	T	C	18: 80,236,026 (GRCm39)	H241R	probably damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rps6ka1	C	T	4: 133,600,150 (GRCm39)		probably benign	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sbno1	A	G	5: 124,543,720 (GRCm39)	V273A	probably benign	Het
Scg3	T	C	9: 75,570,522 (GRCm39)	N344S	probably damaging	Het
Serpinb1c	C	G	13: 33,066,027 (GRCm39)	G306A	probably benign	Het
Sh2d6	C	T	6: 72,492,604 (GRCm39)	G206D	probably benign	Het
Slamf9	G	A	1: 172,304,938 (GRCm39)	S184N	probably damaging	Het
Slc50a1	T	C	3: 89,176,042 (GRCm39)	T168A	probably damaging	Het
Tas2r124	G	C	6: 132,732,034 (GRCm39)	W114C	probably damaging	Het
Tgm4	C	T	9: 122,877,616 (GRCm39)	T206I	possibly damaging	Het
Tmem52	A	G	4: 155,553,899 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,880,841 (GRCm39)	K61E	probably benign	Het
Vmn2r58	T	C	7: 41,487,087 (GRCm39)	I603V	probably benign	Het
Vstm2l	G	T	2: 157,756,795 (GRCm39)	G22V	unknown	Het
Vwa5b1	T	A	4: 138,315,990 (GRCm39)	Y584F	probably damaging	Het
Wdfy3	A	T	5: 101,995,040 (GRCm39)	V3233D	probably damaging	Het
Wdhd1	A	G	14: 47,511,409 (GRCm39)	V101A	probably benign	Het
Zfc3h1	C	A	10: 115,263,319 (GRCm39)	Q1761K	possibly damaging	Het
Zfp180	G	A	7: 23,804,315 (GRCm39)	V245I	probably benign	Het
Zfp846	A	T	9: 20,505,189 (GRCm39)	I350L	probably benign	Het

Other mutations in Pafah1b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Pafah1b3	APN	7	24,995,614 (GRCm39)	missense	probably benign	0.02
IGL01351:Pafah1b3	APN	7	24,994,570 (GRCm39)	missense	possibly damaging	0.83
IGL01932:Pafah1b3	APN	7	24,996,516 (GRCm39)	missense	probably benign	0.02
R0626:Pafah1b3	UTSW	7	24,996,554 (GRCm39)	missense	possibly damaging	0.95
R1426:Pafah1b3	UTSW	7	24,996,560 (GRCm39)	missense	possibly damaging	0.91
R5056:Pafah1b3	UTSW	7	24,994,764 (GRCm39)	missense	probably damaging	1.00
R7177:Pafah1b3	UTSW	7	24,994,657 (GRCm39)	missense	probably benign	0.06
R7367:Pafah1b3	UTSW	7	24,995,491 (GRCm39)	missense	probably benign	0.01
R9381:Pafah1b3	UTSW	7	24,994,699 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ATGGTGCTGCAGAGAAAGCC -3'
(R):5'- ACGTGACGGTTTCTAGTCTGC -3'

Sequencing Primer
(F):5'- GTCAAAGGCACGCACGCTC -3'
(R):5'- ACGGTTTCTAGTCTGCGAAAG -3'

Posted On

2022-07-20