Mutagenetix > Incidental Mutations

Incidental Mutation 'R7524:Pced1a'

582820

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

Fam113a, A930025D01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130422028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 235 (F235L)

Ref Sequence

ENSEMBL: ENSMUSP00000087009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028900] [ENSMUST00000089581] [ENSMUST00000110277] [ENSMUST00000128994]

AlphaFold

Q6P1Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000028900

SMART Domains

Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	420	1e-166	PFAM
low complexity region	452	462	N/A	INTRINSIC
Pfam:Vps16_C	517	835	5.5e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089581
AA Change: F235L

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: F235L

Domain	Start	End	E-Value	Type
Pfam:PC-Esterase	18	267	4e-52	PFAM
low complexity region	308	346	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110277
AA Change: F235L

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: F235L

Domain	Start	End	E-Value	Type
Pfam:PC-Esterase	21	268	3.8e-51	PFAM
low complexity region	308	346	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128994

SMART Domains

Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411

Domain	Start	End	E-Value	Type
Pfam:Vps16_N	4	212	3.2e-74	PFAM
Pfam:Vps16_N	205	316	1e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 55,872,360	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,918,111	E452V	probably damaging	Het
AI464131	C	A	4: 41,498,779	V284L	probably benign	Het
Ak6	A	G	13: 100,663,907	D45G	probably benign	Het
Arhgap17	G	A	7: 123,306,420	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259		probably null	Het
Bend7	A	G	2: 4,799,980	T424A	probably benign	Het
Btbd2	C	T	10: 80,646,444	E241K	probably damaging	Het
Commd2	A	C	3: 57,650,148	L99W	probably damaging	Het
Cpne9	A	T	6: 113,302,064	D473V	probably damaging	Het
Cuzd1	A	T	7: 131,311,618	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,455,945	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,376,696	Q234L	probably benign	Het
Dennd3	T	G	15: 73,524,246	Y201*	probably null	Het
Dnah17	T	C	11: 118,121,481	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,066	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,118,099	D2167G	probably damaging	Het
Dst	T	C	1: 34,291,893	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,659,709	Y736H	probably damaging	Het
Eri2	C	G	7: 119,785,749	V510L	probably benign	Het
Eya2	G	A	2: 165,769,326		probably null	Het
Fam208a	T	A	14: 27,466,203	C869S	probably damaging	Het
Fastkd5	G	T	2: 130,616,128	Q181K	probably benign	Het
Fcgbp	T	C	7: 28,102,966	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,868,740	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181	S304T	probably benign	Het
Gtf2a2	T	A	9: 70,015,347	Y3*	probably null	Het
Hagh	G	A	17: 24,861,340	V226I	probably benign	Het
Hemk1	T	A	9: 107,328,285	I293F	probably benign	Het
Kcna3	A	G	3: 107,037,207	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,584,055	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,678,414	H7Q	probably damaging	Het
Knl1	A	T	2: 119,065,979	Q94L	probably damaging	Het
Krt12	T	C	11: 99,419,659	D224G	probably damaging	Het
Lats1	T	A	10: 7,701,978	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Map1a	G	A	2: 121,289,812	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,303,836	T453A	unknown	Het
Muc3a	A	C	5: 137,210,563	I151S	probably benign	Het
Oaf	G	A	9: 43,222,780	R215C	probably damaging	Het
Olfr1019	T	A	2: 85,841,357	M145L	probably benign	Het
Olfr1217	T	A	2: 89,023,971	I11L	probably benign	Het
Olfr1233	A	G	2: 89,339,877	C142R	probably benign	Het
Olfr1507	T	C	14: 52,490,293	I224V	probably damaging	Het
Olfr5	T	C	7: 6,480,587	N190D	probably benign	Het
Olfr8	T	A	10: 78,955,491	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,721,608	D352V	probably benign	Het
Pclo	A	G	5: 14,678,303	I2392V	unknown	Het
Pld1	A	T	3: 28,024,321	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,350,894	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,842,864	L93H	probably damaging	Het
Psg20	T	C	7: 18,684,659	D61G	probably benign	Het
Rab40b	T	A	11: 121,388,052	I31F	probably damaging	Het
Rasd2	T	C	8: 75,222,081	F212L	probably benign	Het
Rbl2	A	G	8: 91,115,193	I1006V	probably benign	Het
Sema6c	A	G	3: 95,167,060	E59G	probably benign	Het
Slc22a2	G	T	17: 12,606,057	V269L	possibly damaging	Het
Slc2a1	C	T	4: 119,132,612	P149S	probably damaging	Het
Smad4	T	G	18: 73,675,871	E108D	probably damaging	Het
Sorbs2	T	A	8: 45,795,656	I648K	probably benign	Het
Suclg1	A	T	6: 73,263,841	I118F	probably damaging	Het
Tet2	A	G	3: 133,480,229	I1149T	probably benign	Het
Tfr2	T	A	5: 137,571,489	Y82*	probably null	Het
Tfr2	G	T	5: 137,583,489	V613L	probably benign	Het
Tg	A	T	15: 66,696,161	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,844,105	M170L	probably benign	Het
Trim71	T	C	9: 114,513,162	N684S	probably benign	Het
Tspan9	A	G	6: 127,965,251	I212T	probably benign	Het
Ttn	A	G	2: 76,942,975	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,936,759	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,053,982	I219V	probably benign	Het
Vmn2r76	T	C	7: 86,225,369	H800R	probably benign	Het
Vmn2r76	C	T	7: 86,230,166	G309R	probably benign	Het
Xpc	A	T	6: 91,499,531	C529S	probably benign	Het
Zfp455	T	A	13: 67,207,624	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,064,889	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,192,074	I490N	probably damaging	Het

Other mutations in Pced1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pced1a	APN	2	130419178	missense	probably benign	0.00
IGL02173:Pced1a	APN	2	130422328	missense	possibly damaging	0.46
IGL02547:Pced1a	APN	2	130419707	missense	possibly damaging	0.74
IGL02729:Pced1a	APN	2	130421903	missense	probably benign	0.01
IGL03107:Pced1a	APN	2	130422835	missense	possibly damaging	0.81
R0139:Pced1a	UTSW	2	130421907	missense	probably benign	0.00
R0550:Pced1a	UTSW	2	130419633	missense	probably benign	0.00
R0578:Pced1a	UTSW	2	130419843	missense	probably damaging	0.98
R3037:Pced1a	UTSW	2	130419859	missense	probably benign	0.40
R3157:Pced1a	UTSW	2	130419767	missense	probably benign	0.12
R4578:Pced1a	UTSW	2	130422676	missense	probably damaging	1.00
R5306:Pced1a	UTSW	2	130419171	missense	probably benign
R6210:Pced1a	UTSW	2	130421919	missense	probably damaging	1.00
R7444:Pced1a	UTSW	2	130422059	missense	probably damaging	0.98
R7459:Pced1a	UTSW	2	130419824	missense	possibly damaging	0.59
R7744:Pced1a	UTSW	2	130422052	missense	probably damaging	1.00
R7782:Pced1a	UTSW	2	130422515	missense	probably damaging	0.99
R7851:Pced1a	UTSW	2	130422316	missense	probably damaging	0.99
R8300:Pced1a	UTSW	2	130424237	unclassified	probably benign
R8404:Pced1a	UTSW	2	130423657	unclassified	probably benign
R8502:Pced1a	UTSW	2	130423657	unclassified	probably benign
R8990:Pced1a	UTSW	2	130422551	missense	probably damaging	1.00
Z1177:Pced1a	UTSW	2	130422628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTGCTCCAAAGGTCCTACC -3'
(R):5'- GGTGTGGAACTTGGCAATGC -3'

Sequencing Primer
(F):5'- GGTCCTACCTACACCAATACCC -3'
(R):5'- TCCTGCCAGAGGTGAGTGAC -3'

Posted On

2019-10-17