Mutagenetix > Incidental Mutations

Incidental Mutation 'R7852:Patl2'

606969

Institutional Source

Beutler Lab

Gene Symbol

Patl2

Ensembl Gene

ENSMUSG00000027233

Gene Name

protein associated with topoisomerase II homolog 2 (yeast)

Synonyms

Pat1a, 4930424G05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R7852 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 122179109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036089]

AlphaFold

A2ARM1

Predicted Effect

probably benign
Transcript: ENSMUST00000028665

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036089

SMART Domains

Protein: ENSMUSP00000047627
Gene: ENSMUSG00000033368

Domain	Start	End	E-Value	Type
RING	42	82	8.48e-8	SMART
low complexity region	95	111	N/A	INTRINSIC
PDB:4NQJ\|C	144	322	2e-86	PDB
PRY	323	375	9.37e-19	SMART
SPRY	376	500	4.97e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	A	3: 88,696,736	S287T	probably benign	Het
4933415A04Rik	GTGT	GTGTTTGT	11: 43,587,426		probably null	Het
Aco1	A	G	4: 40,180,263	D388G	probably benign	Het
Adgrl1	T	G	8: 83,935,558	L1016R	probably damaging	Het
Agmo	C	T	12: 37,242,052	P4L	possibly damaging	Het
Agrn	A	T	4: 156,169,057	H1792Q	probably benign	Het
Arhgef40	C	T	14: 51,991,797	L615F	unknown	Het
Atp6v1b1	A	T	6: 83,752,470	M121L	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cep152	A	T	2: 125,590,113	N622K	possibly damaging	Het
Cfhr1	A	C	1: 139,556,427	V117G	probably damaging	Het
Dnajb1	T	A	8: 83,610,205	D201E	probably benign	Het
Dpysl2	T	C	14: 66,862,643	N48S	probably benign	Het
Dsc2	A	G	18: 20,046,285	I242T	possibly damaging	Het
Fam193a	C	A	5: 34,410,817	D153E	probably benign	Het
Flnc	G	T	6: 29,440,898	D332Y	probably damaging	Het
Fstl5	A	G	3: 76,707,968	I779V	probably benign	Het
Gm2016	G	A	12: 87,876,972	V130M	unknown	Het
Gm29394	T	C	15: 58,048,776	I11V	unknown	Het
Gm36864	ATCAGAAGTTTC	ATC	7: 44,236,937		probably benign	Het
Gm8332	A	C	12: 88,249,818	Y95D	probably damaging	Het
Gnpnat1	G	A	14: 45,384,653	P28S	probably damaging	Het
Grk5	T	C	19: 61,080,945		probably null	Het
Gys2	A	T	6: 142,430,333	F534L	probably damaging	Het
Igdcc4	G	A	9: 65,120,258	V201I	probably benign	Het
Kif12	G	C	4: 63,167,989	P374A	probably benign	Het
Krt16	A	T	11: 100,246,766	I371N	probably damaging	Het
Lrfn2	G	A	17: 49,069,944	V18I	possibly damaging	Het
Masp2	G	A	4: 148,602,732	E24K	probably benign	Het
Mdga2	T	C	12: 66,470,950	N37D	possibly damaging	Het
Med12l	T	A	3: 59,247,911	F1171I	probably damaging	Het
Med22	A	T	2: 26,910,364	Y18N	probably damaging	Het
Mfsd4b1	T	C	10: 40,003,415	N162S	probably benign	Het
Micu2	A	T	14: 57,932,253	N213K	probably benign	Het
Mpc1	C	T	17: 8,296,908	T86I	probably damaging	Het
Mto1	G	T	9: 78,449,538	V112L	possibly damaging	Het
Napepld	C	T	5: 21,683,173	V93I	probably benign	Het
Nkx2-2	A	T	2: 147,184,269	M183K	probably damaging	Het
Nlrp10	A	G	7: 108,925,074	S400P	probably damaging	Het
Nynrin	T	C	14: 55,871,429	L1331P	probably damaging	Het
Ofcc1	T	A	13: 40,180,439	D392V	probably damaging	Het
Olfr1495	A	G	19: 13,768,510	H56R	probably benign	Het
Olfr698	A	T	7: 106,752,638	M250K	probably damaging	Het
Olfr768	T	A	10: 129,093,516	I153F	probably benign	Het
Olfr96	T	C	17: 37,225,272	V49A	probably benign	Het
Pde8b	T	G	13: 95,107,697	D78A	probably damaging	Het
Pgls	T	A	8: 71,595,203		probably null	Het
Pik3c2a	A	G	7: 116,417,458	S355P	probably benign	Het
Pole	G	A	5: 110,306,829	R976Q	probably damaging	Het
Ppip5k2	A	G	1: 97,741,171	L511S	probably damaging	Het
Prcp	A	T	7: 92,928,692	N390Y	probably benign	Het
Rpgrip1	T	A	14: 52,145,880	N752K	probably benign	Het
Rsl1d1	A	G	16: 11,203,234	S8P	probably benign	Het
S100a1	C	A	3: 90,512,085	A18S	probably benign	Het
Slc25a13	A	G	6: 6,152,461	F92S	probably damaging	Het
Slc35f3	T	C	8: 126,394,480	I360T	probably damaging	Het
Slc35f6	T	C	5: 30,656,815	Y202H	possibly damaging	Het
Sox6	A	T	7: 115,801,604	M1K	probably null	Het
Stx8	G	A	11: 67,969,785	D11N	probably damaging	Het
Vmn2r52	T	C	7: 10,158,968	Y748C	probably damaging	Het
Vmn2r78	T	A	7: 86,920,170	Y90*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,814	N156S	probably benign	Het
Zc3h4	A	G	7: 16,422,467	S303G	unknown	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	122123810	missense	probably benign	0.19
IGL01780:Patl2	APN	2	122121846	missense	probably damaging	1.00
IGL02604:Patl2	APN	2	122125333	missense	possibly damaging	0.80
IGL02713:Patl2	APN	2	122125847	missense	probably benign	0.01
IGL02990:Patl2	APN	2	122124497	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4548:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126136	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126144	nonsense	probably null
FR4737:Patl2	UTSW	2	122126145	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126139	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126141	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126144	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126145	small insertion	probably benign
R0001:Patl2	UTSW	2	122125710	splice site	probably benign
R0002:Patl2	UTSW	2	122125710	splice site	probably benign
R0540:Patl2	UTSW	2	122126669	missense	probably benign
R0570:Patl2	UTSW	2	122125308	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	122126669	missense	probably benign
R1463:Patl2	UTSW	2	122123735	missense	probably benign	0.38
R2992:Patl2	UTSW	2	122125754	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	122127537	missense	probably benign	0.01
R4583:Patl2	UTSW	2	122126745	missense	probably benign	0.00
R4737:Patl2	UTSW	2	122125306	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	122128848	nonsense	probably null
R5091:Patl2	UTSW	2	122123802	missense	probably benign	0.01
R5256:Patl2	UTSW	2	122128887	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	122125281	missense	probably benign	0.00
R5990:Patl2	UTSW	2	122124484	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	122126137	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	122127486	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122186164	start gained	probably benign
R6969:Patl2	UTSW	2	122128929	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	122121782	critical splice donor site	probably null
R7436:Patl2	UTSW	2	122127525	missense	probably benign	0.00
R7718:Patl2	UTSW	2	122126774	splice site	probably null
R8397:Patl2	UTSW	2	122125273	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCCCCTGCCTTAATGAC -3'
(R):5'- CTCTTAAAATCATGCTGGCAGC -3'

Sequencing Primer
(F):5'- CCTGCCTTAATGACGGTGG -3'
(R):5'- GCTGGCAGCAGTAATAATATCTTTC -3'

Posted On

2019-12-20