Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Pced1a'

684336

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

A930025D01Rik, Fam113a

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130259603-130266692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130264471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 120 (Y120H)

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: Y120H

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

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: Y120H

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: Y120H

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

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: Y120H

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Asnsd1	C	T	1: 53,385,901 (GRCm39)	G491D	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Gm32742	G	A	9: 51,058,802 (GRCm39)	P1072S	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Kcnf1	G	A	12: 17,225,336 (GRCm39)	T295I	probably benign	Het
Klhl9	A	G	4: 88,640,205 (GRCm39)	V12A	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Snap23	G	T	2: 120,415,516 (GRCm39)		probably benign	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	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
R7744:Pced1a	UTSW	2	130,263,972 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCTGTAGCTCTCCATTGAG -3'
(R):5'- ACCTACCTGGCATGGATCTG -3'

Sequencing Primer
(F):5'- CGGCCATATCTGTTGGGTAACAC -3'
(R):5'- ACCTGGCATGGATCTGACCATC -3'

Posted On

2021-10-11