Mutagenetix > Incidental Mutation

Incidental Mutation 'R9766:Patl2'

733253

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

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121950589-122016670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121954212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 453 (V453E)

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

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

AlphaFold

A2ARM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028665
AA Change: V453E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: V453E

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,788 (GRCm39)	V59A	probably benign	Het
Aatk	A	T	11: 119,902,565 (GRCm39)	H610Q	probably benign	Het
Acox1	G	A	11: 116,071,867 (GRCm39)	A187V	probably damaging	Het
Acsbg3	A	G	17: 57,189,177 (GRCm39)	Y195C	probably benign	Het
AI661453	C	T	17: 47,757,570 (GRCm39)	R76W	probably damaging	Het
Anapc1	C	T	2: 128,500,221 (GRCm39)	R808Q	probably damaging	Het
Ankrd26	T	C	6: 118,500,067 (GRCm39)	T1135A	possibly damaging	Het
Arhgap17	A	G	7: 122,921,148 (GRCm39)	V113A	probably benign	Het
Art3	T	C	5: 92,562,138 (GRCm39)	C379R	unknown	Het
Bltp3a	T	C	17: 28,105,799 (GRCm39)	L775P	probably damaging	Het
Bmp5	A	G	9: 75,800,982 (GRCm39)	I371V	probably damaging	Het
Ccdc88b	T	A	19: 6,833,096 (GRCm39)	E281V	probably damaging	Het
Ces1e	A	T	8: 93,946,031 (GRCm39)	Y171N	probably damaging	Het
Cib3	A	T	8: 72,961,034 (GRCm39)	F68I	possibly damaging	Het
Crtac1	A	T	19: 42,402,557 (GRCm39)	L17Q	possibly damaging	Het
Crybg3	A	T	16: 59,376,207 (GRCm39)	S1682R	probably benign	Het
Ddx60	G	A	8: 62,465,312 (GRCm39)	G1323D	probably damaging	Het
Dock3	A	C	9: 106,788,483 (GRCm39)	D161E	probably benign	Het
Dpep3	A	C	8: 106,705,369 (GRCm39)	L127R	probably damaging	Het
Dus2	A	G	8: 106,772,568 (GRCm39)	D226G	probably damaging	Het
Ebna1bp2	T	C	4: 118,480,821 (GRCm39)	V184A	possibly damaging	Het
Edem1	T	A	6: 108,823,648 (GRCm39)	I348N	probably damaging	Het
Efcab8	A	T	2: 153,656,362 (GRCm39)	M599L	unknown	Het
Eif2ak4	A	T	2: 118,261,313 (GRCm39)	K618*	probably null	Het
Fbxw27	T	C	9: 109,602,215 (GRCm39)	K253E	possibly damaging	Het
Fgf5	A	G	5: 98,423,113 (GRCm39)	E166G	possibly damaging	Het
Flot1	G	T	17: 36,141,555 (GRCm39)	E321*	probably null	Het
Gm14443	T	C	2: 175,012,248 (GRCm39)	E66G	probably benign	Het
Gprc6a	G	A	10: 51,491,884 (GRCm39)	P622S	probably damaging	Het
Gsta2	A	T	9: 78,244,876 (GRCm39)	Y79*	probably null	Het
Hecw2	A	G	1: 53,904,287 (GRCm39)	S1154P	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Kcnd2	T	C	6: 21,216,367 (GRCm39)	S24P	probably benign	Het
Knl1	A	G	2: 118,900,381 (GRCm39)	D694G	probably damaging	Het
L1td1	T	C	4: 98,624,753 (GRCm39)	I316T	probably benign	Het
Lrsam1	G	T	2: 32,818,077 (GRCm39)	Q660K	probably benign	Het
Muc16	T	A	9: 18,548,153 (GRCm39)	T6047S	probably benign	Het
Muc16	T	A	9: 18,552,383 (GRCm39)	T4637S	probably benign	Het
Myo5a	T	C	9: 75,078,914 (GRCm39)	Y891H	probably damaging	Het
Nkd2	G	T	13: 73,995,131 (GRCm39)	D22E	possibly damaging	Het
Pcnx2	A	G	8: 126,488,313 (GRCm39)	Y1744H	probably damaging	Het
Phf8-ps	T	G	17: 33,285,647 (GRCm39)	N385T	probably damaging	Het
Pira2	T	A	7: 3,845,517 (GRCm39)	H289L	possibly damaging	Het
Pitpnm1	T	C	19: 4,158,117 (GRCm39)	I569T	probably benign	Het
Ppp4r4	T	C	12: 103,562,735 (GRCm39)	V568A	probably benign	Het
Ptf1a	G	A	2: 19,451,062 (GRCm39)	G131S	probably benign	Het
Rasgrf2	G	T	13: 92,160,188 (GRCm39)	H396N	probably damaging	Het
Rfx1	C	T	8: 84,814,376 (GRCm39)	T315M	probably damaging	Het
Rnf207	C	A	4: 152,400,402 (GRCm39)	R148L	probably damaging	Het
Scn11a	T	G	9: 119,584,181 (GRCm39)	N1478T	probably damaging	Het
Sdr39u1	C	T	14: 56,135,194 (GRCm39)	V250I	probably benign	Het
Serinc3	T	C	2: 163,471,095 (GRCm39)	T276A	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stambp	C	A	6: 83,534,469 (GRCm39)	A273S	probably benign	Het
Taf2	T	C	15: 54,910,881 (GRCm39)		probably null	Het
Tex26	A	T	5: 149,386,642 (GRCm39)	Y232F	probably damaging	Het
Tmem258	T	C	19: 10,184,578 (GRCm39)	L55P	probably damaging	Het
Trappc8	A	G	18: 20,979,630 (GRCm39)	I755T	possibly damaging	Het
Ubr4	T	C	4: 139,194,595 (GRCm39)	Y1163H	unknown	Het
Usp14	G	A	18: 10,005,630 (GRCm39)	T254I	probably benign	Het
Vcan	A	G	13: 89,839,247 (GRCm39)	L2099P	probably benign	Het
Wdfy3	C	T	5: 102,042,866 (GRCm39)	V1962I	possibly damaging	Het
Zfp407	T	C	18: 84,577,574 (GRCm39)	T1180A	probably benign	Het
Zfp644	C	A	5: 106,784,691 (GRCm39)	G619C	probably damaging	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	121,954,291 (GRCm39)	missense	probably benign	0.19
IGL01780:Patl2	APN	2	121,952,327 (GRCm39)	missense	probably damaging	1.00
IGL02604:Patl2	APN	2	121,955,814 (GRCm39)	missense	possibly damaging	0.80
IGL02713:Patl2	APN	2	121,956,328 (GRCm39)	missense	probably benign	0.01
IGL02990:Patl2	APN	2	121,954,978 (GRCm39)	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	121,956,616 (GRCm39)	small insertion	probably benign
FR4548:Patl2	UTSW	2	121,956,616 (GRCm39)	small insertion	probably benign
FR4737:Patl2	UTSW	2	121,956,626 (GRCm39)	small insertion	probably benign
FR4737:Patl2	UTSW	2	121,956,625 (GRCm39)	nonsense	probably null
FR4737:Patl2	UTSW	2	121,956,617 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,625 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,622 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,620 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,626 (GRCm39)	small insertion	probably benign
R0001:Patl2	UTSW	2	121,956,191 (GRCm39)	splice site	probably benign
R0002:Patl2	UTSW	2	121,956,191 (GRCm39)	splice site	probably benign
R0540:Patl2	UTSW	2	121,957,150 (GRCm39)	missense	probably benign
R0570:Patl2	UTSW	2	121,955,789 (GRCm39)	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	121,957,150 (GRCm39)	missense	probably benign
R1463:Patl2	UTSW	2	121,954,216 (GRCm39)	missense	probably benign	0.38
R2992:Patl2	UTSW	2	121,956,235 (GRCm39)	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	121,958,018 (GRCm39)	missense	probably benign	0.01
R4583:Patl2	UTSW	2	121,957,226 (GRCm39)	missense	probably benign	0.00
R4737:Patl2	UTSW	2	121,955,787 (GRCm39)	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	121,959,329 (GRCm39)	nonsense	probably null
R5091:Patl2	UTSW	2	121,954,283 (GRCm39)	missense	probably benign	0.01
R5256:Patl2	UTSW	2	121,959,368 (GRCm39)	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	121,955,762 (GRCm39)	missense	probably benign	0.00
R5990:Patl2	UTSW	2	121,954,965 (GRCm39)	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	121,956,618 (GRCm39)	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	121,957,967 (GRCm39)	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122,016,645 (GRCm39)	start gained	probably benign
R6969:Patl2	UTSW	2	121,959,410 (GRCm39)	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	121,952,263 (GRCm39)	critical splice donor site	probably null
R7436:Patl2	UTSW	2	121,958,006 (GRCm39)	missense	probably benign	0.00
R7718:Patl2	UTSW	2	121,957,255 (GRCm39)	splice site	probably null
R7852:Patl2	UTSW	2	122,009,590 (GRCm39)	unclassified	probably benign
R8397:Patl2	UTSW	2	121,955,754 (GRCm39)	missense	probably damaging	1.00
R9515:Patl2	UTSW	2	121,955,374 (GRCm39)	missense	probably benign	0.09
R9699:Patl2	UTSW	2	121,955,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAGTGGTGCCGCATCCAC -3'
(R):5'- ATGCCCAATGCTGGTCAAAC -3'

Sequencing Primer
(F):5'- GTGCCGCATCCACACATG -3'
(R):5'- CCCAATGCTGGTCAAACAGGAAAG -3'

Posted On

2022-11-14