Mutagenetix > Incidental Mutation

Incidental Mutation 'R7744:Pced1a'

596722

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

A930025D01Rik, Fam113a

MMRRC Submission

045800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130259603-130266692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130263972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 227 (D227N)

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 damaging
Transcript: ENSMUST00000089581
AA Change: D227N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: D227N

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: D227N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: D227N

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: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Abi2	A	G	1: 60,476,362 (GRCm39)	I145V	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Atf7ip2	T	A	16: 10,059,522 (GRCm39)	V354E	possibly damaging	Het
Bglap	T	C	3: 88,290,958 (GRCm39)	Y91C	probably damaging	Het
Cacna1e	A	T	1: 154,341,538 (GRCm39)	S1219T	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cd177	A	G	7: 24,449,800 (GRCm39)	C562R	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Dyrk3	A	G	1: 131,057,543 (GRCm39)	V210A	probably damaging	Het
Eif3c	C	A	7: 126,158,066 (GRCm39)	G297W	probably damaging	Het
Eml1	A	G	12: 108,482,863 (GRCm39)	H494R	probably benign	Het
Enpp2	A	T	15: 54,764,629 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,986,720 (GRCm39)	C53F	possibly damaging	Het
Fndc3a	C	A	14: 72,799,156 (GRCm39)	G609V	possibly damaging	Het
Grid1	A	G	14: 35,172,036 (GRCm39)	D514G	probably damaging	Het
Gxylt2	T	C	6: 100,760,278 (GRCm39)	V271A	probably damaging	Het
Hes1	A	G	16: 29,884,997 (GRCm39)	K74R	probably damaging	Het
Igsf9	A	G	1: 172,319,752 (GRCm39)	N349S	probably benign	Het
Isx	T	A	8: 75,600,285 (GRCm39)	I6N	possibly damaging	Het
Kcnb1	A	T	2: 167,030,251 (GRCm39)	F98Y	probably damaging	Het
Kif1b	G	C	4: 149,321,532 (GRCm39)	T1129R	possibly damaging	Het
Klra10	T	A	6: 130,249,724 (GRCm39)		probably null	Het
Mcm10	A	T	2: 4,996,253 (GRCm39)	L870Q	probably damaging	Het
Mettl16	T	A	11: 74,693,829 (GRCm39)	I280K	probably benign	Het
Mre11a	G	A	9: 14,721,128 (GRCm39)	R349Q	possibly damaging	Het
Mrpl10	C	T	11: 96,935,402 (GRCm39)	T34I	probably damaging	Het
Muc16	T	A	9: 18,496,392 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,877,548 (GRCm39)	C400R	unknown	Het
Nbr1	C	T	11: 101,460,210 (GRCm39)	T402M	probably damaging	Het
Ndufs1	A	G	1: 63,200,099 (GRCm39)	M271T	possibly damaging	Het
Or10q1	A	G	19: 13,727,419 (GRCm39)	*316W	probably null	Het
Or4c29	C	T	2: 88,740,003 (GRCm39)	V245I	possibly damaging	Het
Or51f23c-ps1	G	T	7: 102,431,597 (GRCm39)	V305L	probably benign	Het
Pakap	T	C	4: 57,709,519 (GRCm39)	S155P	probably damaging	Het
Phf21b	A	G	15: 84,689,070 (GRCm39)	I152T	probably damaging	Het
Pla2g4a	A	G	1: 149,736,853 (GRCm39)	V430A	probably benign	Het
Plbd1	T	C	6: 136,594,244 (GRCm39)	E335G	probably benign	Het
Plce1	G	A	19: 38,608,899 (GRCm39)	V403M	possibly damaging	Het
Pnpla6	T	A	8: 3,581,677 (GRCm39)	N642K	probably benign	Het
Ptprb	T	C	10: 116,113,389 (GRCm39)	I123T	probably benign	Het
Rab3il1	T	A	19: 10,005,641 (GRCm39)		probably null	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rgl3	T	C	9: 21,898,866 (GRCm39)	K191R	probably benign	Het
Rnf223	G	A	4: 156,216,982 (GRCm39)	R119H	probably benign	Het
Sapcd2	C	T	2: 25,263,508 (GRCm39)	P217S	unknown	Het
Setd7	C	T	3: 51,434,261 (GRCm39)		probably null	Het
Sh3bp1	A	C	15: 78,794,209 (GRCm39)	T526P	possibly damaging	Het
Slc17a4	C	A	13: 24,085,767 (GRCm39)	W382L	probably benign	Het
Slc26a3	A	T	12: 31,513,464 (GRCm39)		probably null	Het
Tmem129	A	G	5: 33,811,732 (GRCm39)	L356P	probably damaging	Het
Trib1	T	A	15: 59,526,512 (GRCm39)	Y361N	probably benign	Het
Xirp1	T	A	9: 119,845,912 (GRCm39)	R990S	possibly damaging	Het
Zfp950	A	C	19: 61,116,010 (GRCm39)		probably null	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
R0578:Pced1a	UTSW	2	130,261,763 (GRCm39)	missense	probably damaging	0.98
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
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'- TTGTGCTCCAAAGGTCCTAC -3'
(R):5'- GGTGTGGAACTTGGCAATGC -3'

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

Posted On

2019-11-26