Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Pafah1b3'

57489

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

038815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24994473-24997377 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24996554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 43 (V43A)

Ref Sequence

ENSEMBL: ENSMUSP00000120379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005578] [ENSMUST00000005583] [ENSMUST00000080288] [ENSMUST00000108410] [ENSMUST00000148150] [ENSMUST00000155118] [ENSMUST00000164820] [ENSMUST00000163320] [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
AA Change: V43A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447
AA Change: V43A

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

noncoding transcript
Transcript: ENSMUST00000140093

Predicted Effect

probably benign
Transcript: ENSMUST00000148150
AA Change: V43A

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447
AA Change: V43A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148828

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155118
AA Change: V43A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120379
Gene: ENSMUSG00000005447
AA Change: V43A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149634

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: 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: 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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	probably damaging	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
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
R9045:Pafah1b3	UTSW	7	24,996,898 (GRCm39)	unclassified	probably benign
R9381:Pafah1b3	UTSW	7	24,994,699 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGGGCACACACTTCATTCTCAGC -3'
(R):5'- CGTGACGGTTTCTAGTCTGCGAAAG -3'

Sequencing Primer
(F):5'- TCAGGTTCTGGGCTTGAAGT -3'
(R):5'- ATAGAACTGCTTCGTGACATCC -3'

Posted On

2013-07-11