Mutagenetix > Incidental Mutation

Incidental Mutation 'R8397:Patl2'

647638

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

067760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122125273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 261 (S261A)

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

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

AlphaFold

A2ARM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028665
AA Change: S261A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: S261A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,040,513 (GRCm38)	T499A	probably benign	Het
Ahsa1	G	T	12: 87,273,677 (GRCm38)	E311*	probably null	Het
Apol9a	C	T	15: 77,404,613 (GRCm38)	V185I	probably benign	Het
Arhgap27	T	A	11: 103,333,247 (GRCm38)	D580V	probably damaging	Het
Arpp21	A	C	9: 112,149,372 (GRCm38)	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,866,163 (GRCm38)	T481S	probably benign	Het
Cct8	G	A	16: 87,493,763 (GRCm38)	R59C	possibly damaging	Het
Cdhr5	C	T	7: 141,271,888 (GRCm38)	G501E	possibly damaging	Het
Chka	G	A	19: 3,852,414 (GRCm38)		probably null	Het
Cit	C	A	5: 115,886,797 (GRCm38)	N366K	probably benign	Het
Dennd4a	A	T	9: 64,889,109 (GRCm38)	M806L	probably benign	Het
Dhx9	T	A	1: 153,468,911 (GRCm38)	H510L	probably damaging	Het
Esyt3	C	T	9: 99,327,913 (GRCm38)	V305I	probably benign	Het
Fbxo40	A	T	16: 36,970,623 (GRCm38)	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,732,647 (GRCm38)	M160V	probably damaging	Het
Frem2	A	G	3: 53,653,141 (GRCm38)	V1315A	probably benign	Het
Gbp9	T	A	5: 105,083,598 (GRCm38)	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,061,305 (GRCm38)	S249A	probably damaging	Het
Gm14418	T	A	2: 177,387,293 (GRCm38)	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,259,894 (GRCm38)	P295Q	probably damaging	Het
Kdm2b	T	C	5: 122,880,516 (GRCm38)	N954D	probably benign	Het
Klf15	C	T	6: 90,466,796 (GRCm38)	H118Y	probably damaging	Het
Lrit2	G	T	14: 37,069,077 (GRCm38)	A238S	probably damaging	Het
Man2c1	A	C	9: 57,135,499 (GRCm38)	M218L	probably benign	Het
Map3k1	T	A	13: 111,755,604 (GRCm38)	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,722,362 (GRCm38)	S971P	probably benign	Het
Map4k3	C	T	17: 80,664,017 (GRCm38)	V74I	probably damaging	Het
Mars	A	T	10: 127,300,499 (GRCm38)	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,544,318 (GRCm38)	S327R	possibly damaging	Het
Mkks	G	A	2: 136,881,003 (GRCm38)	T78M	possibly damaging	Het
Mst1	C	T	9: 108,081,499 (GRCm38)		probably benign	Het
Myh1	G	T	11: 67,221,639 (GRCm38)	A1811S	probably damaging	Het
Myh13	A	G	11: 67,350,287 (GRCm38)	H830R	possibly damaging	Het
Nek4	A	G	14: 30,970,548 (GRCm38)	D443G	possibly damaging	Het
Nf1	T	C	11: 79,547,692 (GRCm38)	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049 (GRCm38)		probably null	Het
Nos1ap	G	T	1: 170,327,625 (GRCm38)	P220T	unknown	Het
Nrxn3	T	A	12: 90,331,809 (GRCm38)	I368N	probably benign	Het
Nup133	T	A	8: 123,922,417 (GRCm38)	Q562L	probably benign	Het
Nup214	T	A	2: 31,990,254 (GRCm38)	L342Q	probably damaging	Het
Nxn	A	G	11: 76,272,406 (GRCm38)	S264P	probably damaging	Het
Olfr739	G	T	14: 50,424,680 (GRCm38)	D54Y	probably damaging	Het
Otud4	T	C	8: 79,669,298 (GRCm38)	S567P	probably benign	Het
Pcdh15	C	T	10: 74,291,033 (GRCm38)	P315S	probably damaging	Het
Pcm1	T	A	8: 41,283,579 (GRCm38)	H827Q	probably damaging	Het
Pirb	G	A	7: 3,716,046 (GRCm38)	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,489,769 (GRCm38)	H236L	probably damaging	Het
Prkd1	C	T	12: 50,392,892 (GRCm38)	G384E	probably benign	Het
Rmnd1	C	A	10: 4,427,278 (GRCm38)	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206 (GRCm38)	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,651,321 (GRCm38)	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,975,998 (GRCm38)	I301L	probably benign	Het
Slc38a11	C	T	2: 65,330,291 (GRCm38)	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,289,326 (GRCm38)		probably null	Het
Slc7a6	T	C	8: 106,193,533 (GRCm38)	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,199,768 (GRCm38)	I837T	probably benign	Het
Spag1	C	T	15: 36,197,749 (GRCm38)	R286*	probably null	Het
Tlr3	A	T	8: 45,398,859 (GRCm38)	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290 (GRCm38)	I530V	probably benign	Het
Vmn2r68	T	C	7: 85,237,514 (GRCm38)	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,456,256 (GRCm38)	Y239N	probably damaging	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	122,123,810 (GRCm38)	missense	probably benign	0.19
IGL01780:Patl2	APN	2	122,121,846 (GRCm38)	missense	probably damaging	1.00
IGL02604:Patl2	APN	2	122,125,333 (GRCm38)	missense	possibly damaging	0.80
IGL02713:Patl2	APN	2	122,125,847 (GRCm38)	missense	probably benign	0.01
IGL02990:Patl2	APN	2	122,124,497 (GRCm38)	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	122,126,135 (GRCm38)	small insertion	probably benign
FR4548:Patl2	UTSW	2	122,126,135 (GRCm38)	small insertion	probably benign
FR4737:Patl2	UTSW	2	122,126,145 (GRCm38)	small insertion	probably benign
FR4737:Patl2	UTSW	2	122,126,144 (GRCm38)	nonsense	probably null
FR4737:Patl2	UTSW	2	122,126,136 (GRCm38)	small insertion	probably benign
FR4976:Patl2	UTSW	2	122,126,144 (GRCm38)	small insertion	probably benign
FR4976:Patl2	UTSW	2	122,126,141 (GRCm38)	small insertion	probably benign
FR4976:Patl2	UTSW	2	122,126,139 (GRCm38)	small insertion	probably benign
FR4976:Patl2	UTSW	2	122,126,145 (GRCm38)	small insertion	probably benign
R0001:Patl2	UTSW	2	122,125,710 (GRCm38)	splice site	probably benign
R0002:Patl2	UTSW	2	122,125,710 (GRCm38)	splice site	probably benign
R0540:Patl2	UTSW	2	122,126,669 (GRCm38)	missense	probably benign
R0570:Patl2	UTSW	2	122,125,308 (GRCm38)	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	122,126,669 (GRCm38)	missense	probably benign
R1463:Patl2	UTSW	2	122,123,735 (GRCm38)	missense	probably benign	0.38
R2992:Patl2	UTSW	2	122,125,754 (GRCm38)	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	122,127,537 (GRCm38)	missense	probably benign	0.01
R4583:Patl2	UTSW	2	122,126,745 (GRCm38)	missense	probably benign	0.00
R4737:Patl2	UTSW	2	122,125,306 (GRCm38)	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	122,128,848 (GRCm38)	nonsense	probably null
R5091:Patl2	UTSW	2	122,123,802 (GRCm38)	missense	probably benign	0.01
R5256:Patl2	UTSW	2	122,128,887 (GRCm38)	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	122,125,281 (GRCm38)	missense	probably benign	0.00
R5990:Patl2	UTSW	2	122,124,484 (GRCm38)	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	122,126,137 (GRCm38)	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	122,127,486 (GRCm38)	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122,186,164 (GRCm38)	start gained	probably benign
R6969:Patl2	UTSW	2	122,128,929 (GRCm38)	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	122,121,782 (GRCm38)	critical splice donor site	probably null
R7436:Patl2	UTSW	2	122,127,525 (GRCm38)	missense	probably benign	0.00
R7718:Patl2	UTSW	2	122,126,774 (GRCm38)	splice site	probably null
R7852:Patl2	UTSW	2	122,179,109 (GRCm38)	unclassified	probably benign
R9515:Patl2	UTSW	2	122,124,893 (GRCm38)	missense	probably benign	0.09
R9699:Patl2	UTSW	2	122,125,110 (GRCm38)	missense	probably damaging	1.00
R9766:Patl2	UTSW	2	122,123,731 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATACAGCGTCAATAGCTCGG -3'
(R):5'- TCCTTACCTACCCTGGGAATG -3'

Sequencing Primer
(F):5'- TCAATAGCTCGGCGAGGG -3'
(R):5'- GAATGTAGGCATGTCCACCTCTG -3'

Posted On

2020-09-02