Mutagenetix > Incidental Mutations

Incidental Mutation 'R7444:Pced1a'

577146

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 #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130422059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 224 (H224Q)

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: H224Q

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

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: H224Q

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: H224Q

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

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: H224Q

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,007,423	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,781,208	Q1673L		Het
Atic	G	T	1: 71,563,787	V107L	probably benign	Het
B2m	A	G	2: 122,150,935	N44D	probably damaging	Het
Bud13	A	G	9: 46,298,501	D636G	probably damaging	Het
Cenpk	T	C	13: 104,249,517	*307Q	probably null	Het
Cep68	A	G	11: 20,239,438	S525P	probably benign	Het
Clca1	A	G	3: 145,027,432	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,292,349	M630L	probably benign	Het
Cpb2	A	G	14: 75,283,342	Y399C	probably damaging	Het
Dars2	G	T	1: 161,046,884	P412T	possibly damaging	Het
E2f8	A	T	7: 48,868,179	I665N	probably damaging	Het
Epha4	A	T	1: 77,387,916	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 58,048,067		probably benign	Het
Flrt3	T	C	2: 140,660,467	T414A	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Fosb	T	C	7: 19,307,274	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,773,543	L174S	probably damaging	Het
Hectd3	T	A	4: 116,996,927	V258E	possibly damaging	Het
Inf2	T	A	12: 112,605,387	W617R	unknown	Het
Irf7	T	A	7: 141,263,686	I358F	probably damaging	Het
Lipo3	A	G	19: 33,558,263		probably null	Het
Lrig2	A	T	3: 104,497,513	L93*	probably null	Het
Lzts1	C	T	8: 69,135,679	V542M	probably damaging	Het
Mefv	T	A	16: 3,715,522	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nat8f6	G	C	6: 85,809,130	S12R	probably benign	Het
Nipal4	G	T	11: 46,166,235	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,092,596	C824*	probably null	Het
Npat	T	C	9: 53,548,910	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,510,694	E549G	probably damaging	Het
Olfr1120	T	A	2: 87,358,100	L219I	possibly damaging	Het
Olfr1253	T	C	2: 89,752,759	K23R	probably benign	Het
Olfr1318	A	T	2: 112,156,715	I255F	probably damaging	Het
Olfr1347	C	A	7: 6,487,920	W311L	probably benign	Het
Olfr398	T	C	11: 73,983,750	N286S	probably damaging	Het
Olfr476	T	A	7: 107,967,604	V69E	probably damaging	Het
Olfr713	T	C	7: 107,036,347	L64P	probably damaging	Het
Olfr779	T	C	10: 129,311,690	M61T	probably benign	Het
Pcdhb11	T	A	18: 37,422,619	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,309,452	L605P	probably damaging	Het
Pde6b	C	A	5: 108,427,142	S623*	probably null	Het
Pgr	T	C	9: 8,946,882	L708P	probably damaging	Het
Pnpla1	T	C	17: 28,878,481	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,747,266	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,517	F270L	probably benign	Het
Ptdss2	C	A	7: 141,153,084	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,047,407	N309I	probably damaging	Het
Rgs12	T	C	5: 35,025,943	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,440,843	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,243,314	P7S	probably damaging	Het
Rnf24	T	C	2: 131,313,295	D4G	probably damaging	Het
Ryr2	T	A	13: 11,555,463	I4925L	probably benign	Het
S1pr5	A	T	9: 21,245,082	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,744,141	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,423,345	C116*	probably null	Het
Sh3rf2	G	A	18: 42,101,539	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,727,193	V843I	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Tecrl	T	A	5: 83,355,068		probably benign	Het
Tex15	T	A	8: 33,576,562	S2007T	possibly damaging	Het
Tomm7	C	A	5: 23,844,157		probably benign	Het
Trpv1	A	C	11: 73,244,204	N409T	possibly damaging	Het
Try5	T	A	6: 41,311,365	Y218F	probably benign	Het
Tspan5	A	T	3: 138,898,122	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,251,948	C709*	probably null	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
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'- AGTCTATGGGAGGGCTTACC -3'
(R):5'- GGTGTGGAACTTGGCAATGC -3'

Sequencing Primer
(F):5'- TTACCTGGCAGCCGGTCATG -3'
(R):5'- AATGCCTCTGGGGGAACGTG -3'

Posted On

2019-10-07