Mutagenetix > Incidental Mutations

Incidental Mutation 'R6210:Pced1a'

503387

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

Fam113a, A930025D01Rik

MMRRC Submission

044344-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6210 (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 130421919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

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: V271A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: V271A

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: V271A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: V271A

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: ENSMUST00000131561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153663

Meta Mutation Damage Score

0.5263

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032	I94F	probably damaging	Het
Bbox1	A	T	2: 110,270,077	D258E	probably benign	Het
Catsperb	A	G	12: 101,412,568		probably null	Het
Ccdc127	T	C	13: 74,356,921	V196A	probably benign	Het
Cd101	A	T	3: 101,018,643	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,673,289	Y101C	probably damaging	Het
Cep135	C	T	5: 76,624,723	L652F	probably benign	Het
Col5a1	G	T	2: 28,032,621	V234L	probably benign	Het
Cxcr6	T	C	9: 123,810,008	S25P	possibly damaging	Het
D17Wsu92e	A	T	17: 27,767,986	D255E	probably benign	Het
Dctn4	C	T	18: 60,546,793	Q258*	probably null	Het
Fmnl2	A	T	2: 53,130,445	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,878,431	K59N	probably benign	Het
Gpr157	T	C	4: 150,101,598	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,090,564	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,298,872		probably null	Het
Igf2r	A	T	17: 12,714,951	N805K	probably damaging	Het
Itga3	T	C	11: 95,068,891		probably benign	Het
Itga6	A	G	2: 71,834,007		probably null	Het
Kcnip1	G	A	11: 33,645,600	T30I	possibly damaging	Het
Lig4	T	C	8: 9,971,585	T732A	probably benign	Het
Lmod3	T	A	6: 97,247,301	T520S	probably damaging	Het
Megf8	G	A	7: 25,343,720	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,040,517		probably null	Het
Msi1	T	C	5: 115,435,476	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,950,317		noncoding transcript	Het
Myo1f	T	A	17: 33,601,070	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,729,497	I462S	probably damaging	Het
Olfr1056	A	G	2: 86,356,358	V8A	probably benign	Het
Olfr330	C	T	11: 58,529,264	A241T	probably damaging	Het
Pah	C	A	10: 87,583,561	Q449K	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Psg21	A	G	7: 18,652,345	Y239H	probably damaging	Het
Ptprt	T	C	2: 162,268,029	Y180C	probably damaging	Het
Raet1d	T	A	10: 22,370,950	I59N	probably damaging	Het
Rfx1	T	C	8: 84,093,018	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,255,674	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Serbp1	T	C	6: 67,272,867		probably benign	Het
Tlr1	A	T	5: 64,925,286	H649Q	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,730	D719E	probably benign	Het
Ttc21b	A	T	2: 66,236,354	S318R	probably benign	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,212,237	Q187R	probably damaging	Het
Ung	C	T	5: 114,131,377	A50V	probably benign	Het
Upk3bl	C	T	5: 136,059,820	Q103*	probably null	Het
Usp17le	C	A	7: 104,769,143	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,228,496	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,386,245	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp748	G	A	13: 67,540,804	P779L	possibly 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
R7444:Pced1a	UTSW	2	130422059	missense	probably damaging	0.98
R7459:Pced1a	UTSW	2	130419824	missense	possibly damaging	0.59
R7524:Pced1a	UTSW	2	130422028	missense	probably benign	0.44
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'- TGTTAGTTGAACAGCCACGTGC -3'
(R):5'- GGGAACTTCTACAGCGCTACAC -3'

Sequencing Primer
(F):5'- GTGATGTAACCCTTCTCAGGAAACG -3'
(R):5'- TACACTAGCCGGGAAACACTG -3'

Posted On

2018-02-27