Mutagenetix > Incidental Mutations

Incidental Mutation 'R0139:Pced1a'

22156

Institutional Source

Beutler Lab

Gene Symbol

Pced1a

Ensembl Gene

ENSMUSG00000037773

Gene Name

PC-esterase domain containing 1A

Synonyms

Fam113a, A930025D01Rik

MMRRC Submission

038424-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

130417247-130424701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130421907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 275 (K275R)

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 benign
Transcript: ENSMUST00000089581
AA Change: K275R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: K275R

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
AA Change: K275R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: K275R

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

0.1789

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,214		probably benign	Het
2010111I01Rik	A	G	13: 63,190,484	N558S	probably benign	Het
A230072I06Rik	C	T	8: 12,279,899	S118L	unknown	Het
Adprhl2	A	G	4: 126,318,154	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,386,138	S544P	probably benign	Het
Arhgef7	A	G	8: 11,800,503	E111G	probably damaging	Het
Atp11a	A	G	8: 12,846,054	M755V	probably benign	Het
Atp2a2	A	G	5: 122,491,715	I97T	probably damaging	Het
Bmp3	G	A	5: 98,879,909	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,278,269		probably benign	Het
Ccdc28a	G	A	10: 18,230,440	S46F	possibly damaging	Het
Ccdc36	T	C	9: 108,412,496	T176A	probably damaging	Het
Ccdc40	G	A	11: 119,264,299	G1122S	probably benign	Het
Cenpw	T	G	10: 30,200,459	T8P	probably benign	Het
Cfap44	G	C	16: 44,433,422	G893R	possibly damaging	Het
Cops7a	A	T	6: 124,961,360	C110S	probably damaging	Het
Cstl1	A	G	2: 148,755,325	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,811,689		probably null	Het
Dio2	T	A	12: 90,729,843	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,154,526	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,845,981	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,149,653	H162P	probably damaging	Het
Exoc5	C	T	14: 49,036,036	E301K	probably damaging	Het
F13b	G	A	1: 139,508,203	S249N	probably damaging	Het
Fam120b	C	T	17: 15,426,184		probably benign	Het
Gbf1	T	C	19: 46,261,792	L396S	probably damaging	Het
Gck	T	A	11: 5,909,139	K143*	probably null	Het
Gck	C	A	11: 5,910,370	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,660,810	N138S	probably damaging	Het
Gm17359	A	T	3: 79,405,835	Y72F	probably damaging	Het
Gm4884	T	C	7: 41,042,963	F119L	probably benign	Het
Igsf11	T	C	16: 39,008,878	S45P	probably damaging	Het
Il10	G	A	1: 131,022,534	V142M	probably damaging	Het
Insc	A	T	7: 114,769,002	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,809,758		probably benign	Het
Katnb1	A	G	8: 95,098,422	S611G	possibly damaging	Het
Kcnb1	A	G	2: 167,105,539	I463T	possibly damaging	Het
Lao1	A	G	4: 118,964,202	N90S	probably benign	Het
Med16	T	A	10: 79,896,801	M710L	probably benign	Het
Mroh2a	G	C	1: 88,257,802	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,016,196		probably benign	Het
Mybpc3	A	G	2: 91,120,337		probably benign	Het
Ndor1	C	T	2: 25,248,354	V405M	possibly damaging	Het
Nell2	A	G	15: 95,432,901	V213A	probably benign	Het
Nme8	T	C	13: 19,677,848	I204V	probably benign	Het
Nup133	A	T	8: 123,929,343	N466K	probably benign	Het
Nxt1	A	G	2: 148,675,470	T44A	probably benign	Het
Olfr1303	A	T	2: 111,814,354	I124K	possibly damaging	Het
Olfr1382	C	T	11: 49,535,574	L130F	probably benign	Het
Olfr1508	T	C	14: 52,463,212	T239A	probably damaging	Het
Olfr310	T	C	7: 86,268,979	E270G	probably benign	Het
Olfr697	A	T	7: 106,741,625	I103N	probably benign	Het
Olfr859	C	T	9: 19,808,869	L184F	probably damaging	Het
Pdcd11	A	G	19: 47,110,959		probably null	Het
Phldb2	A	C	16: 45,770,666		probably benign	Het
Pifo	A	T	3: 105,999,570	M171K	possibly damaging	Het
Piwil1	C	A	5: 128,747,323	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,163,675		probably benign	Het
Ppargc1b	A	T	18: 61,315,963		probably benign	Het
Psg19	C	T	7: 18,797,017	V71I	possibly damaging	Het
Ptk6	T	C	2: 181,196,931		probably benign	Het
Pus7	A	G	5: 23,778,092	S126P	probably damaging	Het
Rab6b	T	A	9: 103,140,377		probably null	Het
Ranbp3	G	A	17: 56,709,272	R347Q	possibly damaging	Het
Sbf1	A	T	15: 89,302,498	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,622,352	V164A	possibly damaging	Het
Smg1	A	G	7: 118,152,675		probably null	Het
Spin1	G	T	13: 51,149,012	V214L	probably benign	Het
Sptbn1	T	C	11: 30,142,289	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,029,795		noncoding transcript	Het
Taar7f	T	C	10: 24,050,414	I302T	probably benign	Het
Tdrd1	C	A	19: 56,843,198	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,067,801	D498G	probably benign	Het
Tpgs2	A	G	18: 25,149,185	L103P	probably damaging	Het
Trip10	A	G	17: 57,261,633		probably null	Het
Trip6	A	T	5: 137,312,174	H269Q	probably benign	Het
Trmt12	T	C	15: 58,872,894	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,812,771	S1416T	probably benign	Het
Tsks	G	A	7: 44,954,459	A438T	probably benign	Het
Ttn	T	C	2: 76,897,286		probably benign	Het
Twf2	G	A	9: 106,212,956	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223	Y115D	probably damaging	Het
Vcan	A	G	13: 89,691,261	S2055P	probably damaging	Het
Yes1	A	G	5: 32,684,695	Q521R	possibly damaging	Het
Zfp114	A	T	7: 24,181,260	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,578,612	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,770,470	Y430N	probably 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
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
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'- TTGCCTCTGCAACACTGCCTAGAC -3'
(R):5'- AGCCGGGAAACACTGTTTCGAC -3'

Sequencing Primer
(F):5'- CTGTTAGTTGAACAGCCACG -3'
(R):5'- ACGTCCTAGATCTCCACTTCC -3'

Posted On

2013-04-16