Mutagenetix > Incidental Mutations

Incidental Mutation 'R1558:Pqlc2'

170408

Institutional Source

Beutler Lab

Gene Symbol

Pqlc2

Ensembl Gene

ENSMUSG00000028744

Gene Name

PQ loop repeat containing 2

Synonyms

MMRRC Submission

039597-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R1558 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139294029-139310708 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 139300080 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]

Predicted Effect

probably benign
Transcript: ENSMUST00000053862

SMART Domains

Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105801
AA Change: L317H

SMART Domains

Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: L317H

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139840

SMART Domains

Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141007

Predicted Effect

probably benign
Transcript: ENSMUST00000172747

SMART Domains

Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,065,705	I708F	probably benign	Het
4933406M09Rik	G	A	1: 134,390,774	G428D	probably damaging	Het
Abca1	T	A	4: 53,092,887	Q299L	probably null	Het
Adamts9	T	G	6: 92,908,711	K399N	possibly damaging	Het
Alox12b	T	C	11: 69,165,885	F369S	probably damaging	Het
Alpk2	A	G	18: 65,350,230	Y236H	probably benign	Het
Ankrd36	T	C	11: 5,635,329	L380P	probably damaging	Het
Atp2a1	C	T	7: 126,452,672	A468T	possibly damaging	Het
Caprin1	A	T	2: 103,775,987	F303I	possibly damaging	Het
Casp7	A	T	19: 56,433,252	R41*	probably null	Het
Ccdc66	T	A	14: 27,486,506	H753L	probably benign	Het
Ccnc	T	C	4: 21,742,671	M166T	probably benign	Het
Cdkl3	T	A	11: 52,032,510	M538K	possibly damaging	Het
Cercam	G	A	2: 29,876,239	A345T	probably benign	Het
Chmp3	T	A	6: 71,560,970	C60*	probably null	Het
Ddx1	C	T	12: 13,239,541	G125S	probably damaging	Het
Defb7	A	G	8: 19,497,551	D24G	probably benign	Het
Dgcr8	A	T	16: 18,259,588	Y653N	probably damaging	Het
Dsc2	T	C	18: 20,050,151	D70G	probably damaging	Het
Erich3	T	G	3: 154,714,068	N266K	probably damaging	Het
Fastk	A	T	5: 24,444,047		probably null	Het
Fat4	A	G	3: 38,888,986	N676S	probably damaging	Het
Fermt1	A	T	2: 132,934,819		probably null	Het
Fmn1	A	G	2: 113,693,118	T1149A	possibly damaging	Het
Foxo3	A	G	10: 42,197,072	V483A	probably damaging	Het
Fpgs	T	C	2: 32,685,840	T364A	possibly damaging	Het
Gm12185	A	G	11: 48,915,435	S310P	probably damaging	Het
Gm15056	A	T	8: 20,901,933		probably benign	Het
Hcn1	T	C	13: 117,975,576	V692A	unknown	Het
Izumo3	A	C	4: 92,146,903	C26G	probably damaging	Het
Kcnf1	T	C	12: 17,175,473	Y249C	probably damaging	Het
Kcnj6	T	C	16: 94,762,499	E380G	possibly damaging	Het
Kdm3b	A	G	18: 34,809,096	T747A	probably damaging	Het
Lrba	G	A	3: 86,351,315	G1370R	probably damaging	Het
Mei1	G	A	15: 82,107,133	R504Q	probably damaging	Het
Mipol1	T	C	12: 57,332,341	I195T	probably damaging	Het
Mum1	G	T	10: 80,232,944	R307S	probably benign	Het
Ncor2	G	A	5: 125,033,546	T1350I	probably damaging	Het
Npy	A	G	6: 49,823,725	E43G	probably damaging	Het
Olfr1152	T	A	2: 87,868,115	N41K	probably damaging	Het
Olfr1507	T	A	14: 52,490,146	I273F	probably benign	Het
Olfr924	T	A	9: 38,848,904	N263K	probably benign	Het
Pcdhb3	T	C	18: 37,301,581	L200P	probably damaging	Het
Pcnt	G	A	10: 76,422,922	H570Y	possibly damaging	Het
Pkd1l2	A	C	8: 117,082,252	D66E	possibly damaging	Het
Plekhg4	A	G	8: 105,381,835	D1170G	possibly damaging	Het
Poln	T	A	5: 34,032,799	H672L	probably benign	Het
Ptprq	T	C	10: 107,644,043	Y1122C	probably damaging	Het
Ptrhd1	A	G	12: 4,236,505	Y132C	probably damaging	Het
Riok1	G	T	13: 38,050,855	R300L	probably damaging	Het
Sbf2	G	T	7: 110,428,346	T481K	probably damaging	Het
Sidt2	A	T	9: 45,951,800	M11K	probably damaging	Het
Syne1	G	A	10: 5,349,280	R992*	probably null	Het
Tmem2	T	A	19: 21,797,982	Y196*	probably null	Het
Tmem8b	C	A	4: 43,681,134	R384S	possibly damaging	Het
Trim28	T	C	7: 13,027,834	Y243H	probably damaging	Het
Trpm6	T	C	19: 18,786,828	M266T	probably benign	Het
Tsg101	A	T	7: 46,889,689	S368T	probably damaging	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Ttc6	G	A	12: 57,686,346	V1092I	probably benign	Het
Vps13b	C	T	15: 35,534,319	T927I	probably damaging	Het
Zfr	C	T	15: 12,140,644	T259I	unknown	Het

Other mutations in Pqlc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:Pqlc2	APN	4	139301073	missense	probably benign	0.01
palanquin	UTSW	4	139306441	critical splice donor site	probably null
R0030:Pqlc2	UTSW	4	139306453	missense	probably damaging	1.00
R0332:Pqlc2	UTSW	4	139300299	missense	possibly damaging	0.68
R2157:Pqlc2	UTSW	4	139301855	missense	probably damaging	1.00
R2518:Pqlc2	UTSW	4	139302499	missense	probably damaging	1.00
R3079:Pqlc2	UTSW	4	139306518	missense	probably damaging	1.00
R3778:Pqlc2	UTSW	4	139298982	splice site	probably null
R4401:Pqlc2	UTSW	4	139306543	missense	probably benign	0.19
R4783:Pqlc2	UTSW	4	139300001	missense	probably benign	0.00
R4784:Pqlc2	UTSW	4	139300001	missense	probably benign	0.00
R4785:Pqlc2	UTSW	4	139300001	missense	probably benign	0.00
R4879:Pqlc2	UTSW	4	139301784	splice site	probably null
R5126:Pqlc2	UTSW	4	139302532	missense	probably benign	0.27
R5540:Pqlc2	UTSW	4	139300344	missense	probably damaging	0.99
R5700:Pqlc2	UTSW	4	139300254	missense	probably damaging	1.00
R6141:Pqlc2	UTSW	4	139300245	missense	probably benign	0.32
R6379:Pqlc2	UTSW	4	139299985	missense	probably benign	0.02
R6905:Pqlc2	UTSW	4	139306441	critical splice donor site	probably null
R7315:Pqlc2	UTSW	4	139301870	missense	probably damaging	1.00
R7499:Pqlc2	UTSW	4	139306512	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGATGGACTGATGGACACACAG -3'
(R):5'- CGACACCATCGTATCCTTCAAAGCG -3'

Sequencing Primer
(F):5'- agatgggtggatgggtgg -3'
(R):5'- CGTATCCTTCAAAGCGTGTGATG -3'

Posted On

2014-04-13