Mutagenetix > Incidental Mutation

Incidental Mutation 'R0578:Pced1a'

56293

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

A930025D01Rik, Fam113a

MMRRC Submission

038768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0578 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

130259603-130266692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130261763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 297 (S297C)

Ref Sequence

ENSEMBL: ENSMUSP00000105906 (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 damaging
Transcript: ENSMUST00000089581
AA Change: S297C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: S297C

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 damaging
Transcript: ENSMUST00000110277
AA Change: S297C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: S297C

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

noncoding transcript
Transcript: ENSMUST00000123977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125973

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142536

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,943,556 (GRCm39)	Y56C	possibly damaging	Het
Abca5	A	T	11: 110,167,315 (GRCm39)	C1500*	probably null	Het
Acr	C	G	15: 89,453,678 (GRCm39)	H72Q	probably damaging	Het
Adam18	T	C	8: 25,131,863 (GRCm39)	D416G	possibly damaging	Het
Afap1l2	T	A	19: 56,904,214 (GRCm39)	Y691F	probably benign	Het
Akna	A	G	4: 63,289,147 (GRCm39)	S1259P	probably benign	Het
Atad2	G	A	15: 57,968,964 (GRCm39)	T525I	probably damaging	Het
Atp2a1	T	G	7: 126,049,315 (GRCm39)	M576L	probably benign	Het
B4galt6	T	C	18: 20,861,013 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,844,904 (GRCm39)	D353G	probably benign	Het
Btg3	A	T	16: 78,161,834 (GRCm39)	D125E	probably benign	Het
Cabin1	A	T	10: 75,549,444 (GRCm39)	D1320E	probably damaging	Het
Cachd1	A	C	4: 100,852,039 (GRCm39)		probably benign	Het
Cad	T	C	5: 31,216,120 (GRCm39)	V151A	probably benign	Het
Capns1	A	T	7: 29,893,453 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,404,116 (GRCm39)	T860S	possibly damaging	Het
Ccdc61	T	C	7: 18,637,400 (GRCm39)	T76A	probably benign	Het
Cdipt	T	A	7: 126,578,702 (GRCm39)		probably null	Het
Cyp2d12	G	A	15: 82,440,584 (GRCm39)		probably benign	Het
Dennd4c	C	A	4: 86,730,659 (GRCm39)	P852Q	probably damaging	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dusp16	G	C	6: 134,695,284 (GRCm39)	L516V	probably damaging	Het
Eif2ak4	T	G	2: 118,305,472 (GRCm39)		probably benign	Het
Faf2	C	T	13: 54,769,658 (GRCm39)	A2V	possibly damaging	Het
Gas2l3	A	G	10: 89,252,937 (GRCm39)	I236T	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Got1	G	T	19: 43,504,222 (GRCm39)	S66R	probably benign	Het
Gpr149	T	A	3: 62,510,110 (GRCm39)	H335L	possibly damaging	Het
Hadhb	A	G	5: 30,383,804 (GRCm39)	I342M	probably benign	Het
Helz	T	A	11: 107,577,226 (GRCm39)	V1859D	unknown	Het
Htr1a	T	A	13: 105,581,595 (GRCm39)	N278K	probably damaging	Het
Inppl1	T	C	7: 101,480,795 (GRCm39)	E355G	probably damaging	Het
Isl2	A	G	9: 55,452,319 (GRCm39)	Y297C	probably damaging	Het
Kat7	T	C	11: 95,182,350 (GRCm39)	H250R	probably benign	Het
Klhl30	A	T	1: 91,282,074 (GRCm39)	D225V	probably benign	Het
Mtch2	T	C	2: 90,683,174 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Ncoa7	A	C	10: 30,577,913 (GRCm39)		probably null	Het
Nuf2	T	A	1: 169,338,118 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,261,017 (GRCm39)	D52G	probably benign	Het
Or6c8	A	G	10: 128,915,062 (GRCm39)	Y257H	probably damaging	Het
Pi15	A	T	1: 17,673,073 (GRCm39)	K91*	probably null	Het
Pla2g4e	C	T	2: 120,075,162 (GRCm39)		probably benign	Het
Plce1	A	T	19: 38,766,383 (GRCm39)	H2136L	probably damaging	Het
Plec	A	G	15: 76,061,084 (GRCm39)	L2973P	probably damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pramel32	T	A	4: 88,552,376 (GRCm39)	I2F	probably benign	Het
R3hdm1	C	T	1: 128,159,174 (GRCm39)	Q950*	probably null	Het
Rxra	C	T	2: 27,649,582 (GRCm39)	A429V	probably damaging	Het
Scnn1a	G	A	6: 125,299,207 (GRCm39)	G96S	probably damaging	Het
Senp5	T	A	16: 31,808,163 (GRCm39)	T337S	possibly damaging	Het
Smg9	A	G	7: 24,114,468 (GRCm39)	D269G	probably damaging	Het
Srsf11	C	T	3: 157,717,704 (GRCm39)		probably benign	Het
Tmtc1	C	T	6: 148,256,716 (GRCm39)		probably benign	Het
Vmn2r19	T	C	6: 123,312,931 (GRCm39)	V667A	probably damaging	Het

Other mutations in Pced1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pced1a	APN	2	130,261,098 (GRCm39)	missense	probably benign	0.00
IGL02173:Pced1a	APN	2	130,264,248 (GRCm39)	missense	possibly damaging	0.46
IGL02547:Pced1a	APN	2	130,261,627 (GRCm39)	missense	possibly damaging	0.74
IGL02729:Pced1a	APN	2	130,263,823 (GRCm39)	missense	probably benign	0.01
IGL03107:Pced1a	APN	2	130,264,755 (GRCm39)	missense	possibly damaging	0.81
R0139:Pced1a	UTSW	2	130,263,827 (GRCm39)	missense	probably benign	0.00
R0550:Pced1a	UTSW	2	130,261,553 (GRCm39)	missense	probably benign	0.00
R3037:Pced1a	UTSW	2	130,261,779 (GRCm39)	missense	probably benign	0.40
R3157:Pced1a	UTSW	2	130,261,687 (GRCm39)	missense	probably benign	0.12
R4578:Pced1a	UTSW	2	130,264,596 (GRCm39)	missense	probably damaging	1.00
R5306:Pced1a	UTSW	2	130,261,091 (GRCm39)	missense	probably benign
R6210:Pced1a	UTSW	2	130,263,839 (GRCm39)	missense	probably damaging	1.00
R7444:Pced1a	UTSW	2	130,263,979 (GRCm39)	missense	probably damaging	0.98
R7459:Pced1a	UTSW	2	130,261,744 (GRCm39)	missense	possibly damaging	0.59
R7524:Pced1a	UTSW	2	130,263,948 (GRCm39)	missense	probably benign	0.44
R7744:Pced1a	UTSW	2	130,263,972 (GRCm39)	missense	probably damaging	1.00
R7782:Pced1a	UTSW	2	130,264,435 (GRCm39)	missense	probably damaging	0.99
R7851:Pced1a	UTSW	2	130,264,236 (GRCm39)	missense	probably damaging	0.99
R8300:Pced1a	UTSW	2	130,266,157 (GRCm39)	unclassified	probably benign
R8404:Pced1a	UTSW	2	130,265,577 (GRCm39)	unclassified	probably benign
R8502:Pced1a	UTSW	2	130,265,577 (GRCm39)	unclassified	probably benign
R8990:Pced1a	UTSW	2	130,264,471 (GRCm39)	missense	probably damaging	1.00
R9630:Pced1a	UTSW	2	130,261,109 (GRCm39)	missense	probably benign	0.01
Z1177:Pced1a	UTSW	2	130,264,548 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGCATTGAGAAGTCCTCCATTG -3'
(R):5'- TCTTGGCTTGAAGTGAAAGGAGACG -3'

Sequencing Primer
(F):5'- GAGAAGTCCTCCATTGCATTG -3'
(R):5'- GAGGAAGGCTACTGTTCTCC -3'

Posted On

2013-07-11