Mutagenetix > Incidental Mutations

Incidental Mutation 'R8300:Pced1a'

639179

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 #

R8300 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 130424237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115899 (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

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773

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

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	A	T	2: 28,462,423	Y109*	probably null	Het
1700024P16Rik	A	T	4: 105,000,492	K622M	probably damaging	Het
6430531B16Rik	A	T	7: 139,977,178	I98N	probably damaging	Het
AB124611	A	G	9: 21,526,265	M1V	probably null	Het
Abca12	T	A	1: 71,313,964	N773I	possibly damaging	Het
Adh7	A	G	3: 138,224,064	E167G	probably damaging	Het
Ank2	T	A	3: 127,010,906	D622V		Het
Asf1b	T	A	8: 83,969,176	F149I	possibly damaging	Het
Bach1	T	C	16: 87,719,108	V179A	probably benign	Het
C1ra	C	T	6: 124,521,638	A430V	probably benign	Het
Cacna1c	T	A	6: 118,598,756	Q1944L		Het
Camkk1	T	C	11: 73,027,440	V158A	probably benign	Het
Ccdc152	T	C	15: 3,298,152	T48A	probably benign	Het
Cd180	A	T	13: 102,704,793	M116L	probably benign	Het
Clca2	C	T	3: 145,098,931	G12R	probably benign	Het
Coq8b	T	C	7: 27,242,246	V252A	possibly damaging	Het
Cp	A	G	3: 19,957,221		probably benign	Het
Ctsj	A	T	13: 61,002,471	V238E	probably damaging	Het
Ctsj	C	T	13: 61,002,472	V238I	probably damaging	Het
Cxcr2	A	T	1: 74,159,174	M276L	probably benign	Het
Drd5	T	C	5: 38,320,329	S222P	probably damaging	Het
Egflam	T	C	15: 7,254,451	D269G	possibly damaging	Het
Fbn2	C	T	18: 58,209,615	R64Q	probably benign	Het
Gm10220	T	C	5: 26,117,820	E198G	probably damaging	Het
Gm1527	A	T	3: 28,926,595	N615Y	possibly damaging	Het
Gpatch3	A	G	4: 133,579,829	H308R	probably damaging	Het
Gsdmc4	A	G	15: 63,894,941	I261T	probably damaging	Het
Gsg1	T	G	6: 135,237,582	T310P	probably benign	Het
Hecw2	T	C	1: 53,887,616	S1075G	probably null	Het
Hyal6	A	G	6: 24,734,088	T7A	probably benign	Het
Ighv1-59	T	G	12: 115,335,367	Q22H	probably damaging	Het
Lyst	T	A	13: 13,664,058	M1853K	possibly damaging	Het
Mccc1	A	T	3: 35,963,604	M649K	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nek4	A	G	14: 30,970,395	D399G		Het
Obscn	T	C	11: 59,043,070	K5323E	probably benign	Het
Olfr414	T	A	1: 174,430,534	Y35*	probably null	Het
Paics	T	C	5: 76,961,406	V196A	probably damaging	Het
Pik3cb	A	G	9: 99,046,658	V848A	probably damaging	Het
Ppm1h	T	A	10: 122,782,213	N92K	probably damaging	Het
Ppp1r16b	T	A	2: 158,746,651	I152N	probably damaging	Het
Pramel7	A	G	2: 87,489,623	M442T	probably benign	Het
Prex2	A	T	1: 11,231,718	N1415I	possibly damaging	Het
Pum3	T	C	19: 27,422,373	K220R	probably benign	Het
Qrich2	G	T	11: 116,456,349	D1216E	probably benign	Het
Rbbp8	T	A	18: 11,705,776		silent	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rimbp2	C	T	5: 128,797,771	R252Q	probably damaging	Het
Rnpep	T	C	1: 135,283,659	H117R	probably benign	Het
Serpinb10	A	G	1: 107,546,726	D206G	probably benign	Het
Sh3tc1	C	T	5: 35,697,448	V1302M	probably benign	Het
Slmap	T	C	14: 26,418,219	E780G	possibly damaging	Het
Snrpg	T	A	6: 86,376,576	V46E	probably damaging	Het
Sptbn5	T	A	2: 120,047,577	Q953L	noncoding transcript	Het
Stard9	C	T	2: 120,704,769	L3836F	possibly damaging	Het
Tcerg1	T	A	18: 42,550,072	M619K	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem57	A	G	4: 134,828,451	I237T	probably benign	Het
Tnfrsf9	C	T	4: 150,933,099	T137M	probably damaging	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trak1	G	T	9: 121,460,499	E626*	probably null	Het
Trio	G	T	15: 27,855,022	H750Q	possibly damaging	Het
U2af2	T	C	7: 5,067,415		probably benign	Het
Vmn2r3	T	C	3: 64,274,926	I451V	probably benign	Het
Zfp930	A	T	8: 69,228,346	N230I	probably benign	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
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
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'- GGTTAGCTGTAGGTACGCAG -3'
(R):5'- CGCAGTGTAACAGTCCATGTCTAG -3'

Sequencing Primer
(F):5'- TGTAGGTACGCAGCTCGAC -3'
(R):5'- ACAGTCCATGTCTAGTACAGCTGG -3'

Posted On

2020-07-28