Mutagenetix > Incidental Mutations

Incidental Mutation 'R7851:Pced1a'

606916

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 #

R7851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130422316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 168 (M168K)

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: M168K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: M168K

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: M168K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: M168K

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% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,410,012		probably null	Het
Abcc3	A	T	11: 94,359,660	L905*	probably null	Het
Adamts9	T	G	6: 92,908,706	D401A	probably damaging	Het
Ankmy1	T	C	1: 92,871,722	K918E	probably damaging	Het
Arfgef3	T	C	10: 18,592,286	N1722S	probably damaging	Het
Arhgef18	A	G	8: 3,448,409	I481V	possibly damaging	Het
Asxl3	T	C	18: 22,517,222	I756T	possibly damaging	Het
Atp6v0b	A	G	4: 117,885,865	F49S	probably damaging	Het
Baz2b	C	A	2: 59,936,716	E107D	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Cd2ap	A	G	17: 42,824,472		probably null	Het
Cnn3	T	A	3: 121,457,343	Y304N	possibly damaging	Het
Cnot2	G	A	10: 116,537,432	S22L	possibly damaging	Het
Coq6	A	T	12: 84,372,155	H311L	possibly damaging	Het
Csf2rb2	T	C	15: 78,288,937	N350S	probably benign	Het
Dhrs9	T	A	2: 69,401,256	N253K	probably benign	Het
Dok7	T	A	5: 35,056,936	M1K	probably null	Het
Eogt	T	A	6: 97,120,201	E313D	probably benign	Het
Etl4	T	C	2: 20,744,140	S430P	probably damaging	Het
Gfod2	T	A	8: 105,728,130	E39D	probably benign	Het
Gfral	T	C	9: 76,205,455	N65D	probably benign	Het
Gsdmc4	A	T	15: 63,902,746	L62*	probably null	Het
Gyg	T	G	3: 20,122,747	M360L	probably benign	Het
Hsp90ab1	A	T	17: 45,570,452	S255T	probably benign	Het
Hyal6	T	A	6: 24,734,498	D143E	probably benign	Het
Ipp	C	T	4: 116,515,475	Q234*	probably null	Het
Ism1	A	T	2: 139,757,265	D386V	probably damaging	Het
Jrkl	T	C	9: 13,244,349	T436A	probably benign	Het
Mup3	A	C	4: 62,085,257	I125S	possibly damaging	Het
Myh6	T	A	14: 54,953,051	E1003V	possibly damaging	Het
Neb	T	A	2: 52,153,064	I6785F	probably benign	Het
Olfr225	T	C	11: 59,613,963	V333A	probably benign	Het
Olfr350	T	A	2: 36,850,416	Y123*	probably null	Het
Olfr739	A	G	14: 50,425,370	T284A	probably damaging	Het
Olfr747	A	G	14: 50,681,458	Y59H	probably damaging	Het
Olfr787	G	T	10: 129,463,560	V295L	probably benign	Het
Pamr1	A	T	2: 102,586,600	T86S	probably benign	Het
Pigs	T	C	11: 78,336,787	L259P	probably damaging	Het
Plch1	T	C	3: 63,698,434	S1350G	probably damaging	Het
Prickle1	G	A	15: 93,500,559	T796I	possibly damaging	Het
Ptcd3	T	C	6: 71,902,859	I138M	probably damaging	Het
Ptprs	T	C	17: 56,425,482	E958G	probably benign	Het
Rcn3	A	T	7: 45,086,812	D157E	probably benign	Het
Rft1	T	C	14: 30,690,583	S534P	probably benign	Het
Ryr3	T	C	2: 112,678,517	T3371A	probably benign	Het
Scn10a	A	T	9: 119,617,762	V1399D	probably damaging	Het
Sec61a1	T	C	6: 88,512,165	T185A	probably benign	Het
Sgsm3	G	A	15: 81,010,753	V607M	probably damaging	Het
Smurf2	T	C	11: 106,830,926	Y581C	probably damaging	Het
Snx8	C	A	5: 140,358,159	V101L	probably damaging	Het
Sp100	A	T	1: 85,706,926	K180M	probably benign	Het
Spire2	T	A	8: 123,356,699		probably null	Het
St6galnac2	A	G	11: 116,685,938	S86P	probably benign	Het
Sybu	G	A	15: 44,746,456	Q139*	probably null	Het
Tas2r114	T	A	6: 131,689,925	I47F	probably damaging	Het
Tcf21	T	C	10: 22,819,848	D19G	probably benign	Het
Terb2	T	C	2: 122,186,313	F9L	probably damaging	Het
Tlr1	T	C	5: 64,924,964	T757A	possibly damaging	Het
Tmco1	C	T	1: 167,308,686		probably benign	Het
Tshz3	T	C	7: 36,771,589	F1001S	probably damaging	Het
Ttc25	C	T	11: 100,545,829	T10I	probably damaging	Het
Vmn2r62	G	A	7: 42,789,115	T99I	probably benign	Het
Wdr7	A	T	18: 63,720,327	T33S	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
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'- TCAACCACATCCTGTCGCAG -3'
(R):5'- ATCATCAACTCCTGCCTCTGGG -3'

Sequencing Primer
(F):5'- AGCTAATTGACAAAGTGGAGTCTC -3'
(R):5'- CTGGGATCTCTCCAGGTTCAG -3'

Posted On

2019-12-20