Mutagenetix > Incidental Mutation

Incidental Mutation 'R9729:Parp4'

731254

Institutional Source

Beutler Lab

Gene Symbol

Parp4

Ensembl Gene

ENSMUSG00000054509

Gene Name

poly (ADP-ribose) polymerase family, member 4

Synonyms

VPARP, Adprtl1, C030027K23Rik, VAULT3, p193, PH5P, E230037B21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R9729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56885888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1656 (T1656A)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161553]

AlphaFold

E9PYK3

Predicted Effect

unknown
Transcript: ENSMUST00000161553
AA Change: T1656A

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: T1656A

Domain	Start	End	E-Value	Type
BRCT	3	84	4.32e-9	SMART
low complexity region	97	104	N/A	INTRINSIC
SCOP:d1a26_1	252	352	2e-19	SMART
Pfam:PARP	371	559	1.8e-50	PFAM
VIT	600	728	1.5e-57	SMART
VWA	867	1030	6.08e-13	SMART
Blast:14_3_3	1149	1205	5e-10	BLAST
low complexity region	1255	1264	N/A	INTRINSIC
low complexity region	1348	1362	N/A	INTRINSIC
low complexity region	1371	1394	N/A	INTRINSIC
internal_repeat_1	1395	1416	4.48e-6	PROSPERO
Pfam:Drf_FH1	1443	1542	3.3e-15	PFAM
low complexity region	1553	1587	N/A	INTRINSIC
internal_repeat_2	1588	1608	2.45e-5	PROSPERO
low complexity region	1695	1708	N/A	INTRINSIC
low complexity region	1739	1750	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are helathy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,519 (GRCm39)	M273K	probably benign	Het
Aar2	A	G	2: 156,393,361 (GRCm39)	D250G	probably benign	Het
Acly	T	A	11: 100,407,711 (GRCm39)	Y213F	probably benign	Het
Adgrg5	G	A	8: 95,668,133 (GRCm39)	M399I		Het
Adhfe1	T	C	1: 9,623,634 (GRCm39)	L95P	probably damaging	Het
Ano7	G	A	1: 93,322,180 (GRCm39)	C396Y	probably damaging	Het
Apob	T	A	12: 8,066,125 (GRCm39)	Y4365N	probably damaging	Het
Arfgap3	C	T	15: 83,192,366 (GRCm39)	R411H	probably damaging	Het
Bbs7	T	C	3: 36,661,818 (GRCm39)	Y127C	probably damaging	Het
Cadps2	T	C	6: 23,382,982 (GRCm39)	T793A	probably benign	Het
Casp8ap2	T	A	4: 32,643,807 (GRCm39)	V960E	possibly damaging	Het
Cd200l1	G	T	16: 45,264,237 (GRCm39)	T107N	possibly damaging	Het
Cdkl3	A	G	11: 51,895,770 (GRCm39)	T6A	probably benign	Het
Cdkn2aip	T	C	8: 48,166,654 (GRCm39)	D51G	probably benign	Het
Cdpf1	G	T	15: 85,692,527 (GRCm39)	S52*	probably null	Het
Celf5	T	A	10: 81,303,925 (GRCm39)	D177V	probably damaging	Het
Cep164	A	G	9: 45,682,897 (GRCm39)	V931A	probably damaging	Het
Cog6	T	C	3: 52,900,907 (GRCm39)	D457G	probably damaging	Het
Col4a2	G	T	8: 11,496,157 (GRCm39)	V1593L	probably benign	Het
Dlg5	C	G	14: 24,204,681 (GRCm39)	M1287I	probably benign	Het
Dmrt1	T	C	19: 25,523,362 (GRCm39)	S238P	probably benign	Het
Dpysl2	A	G	14: 67,099,927 (GRCm39)	M103T	probably benign	Het
Emsy	C	A	7: 98,262,256 (GRCm39)	A608S	probably benign	Het
Entr1	A	G	2: 26,278,645 (GRCm39)	F21S	unknown	Het
Entrep2	C	T	7: 64,806,056 (GRCm39)	G6S	probably benign	Het
Exoc5	A	T	14: 49,253,086 (GRCm39)	C576S	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,558 (GRCm39)	V214M	possibly damaging	Het
Fignl1	A	G	11: 11,752,219 (GRCm39)	S279P	probably benign	Het
Gimap1	A	G	6: 48,719,386 (GRCm39)	R71G	unknown	Het
Gm26727	A	T	2: 67,263,263 (GRCm39)	M88K	probably damaging	Het
Gm45861	T	A	8: 28,045,436 (GRCm39)	W1066R	unknown	Het
Gpr15	A	G	16: 58,538,249 (GRCm39)	L280S	possibly damaging	Het
Grin1	C	T	2: 25,187,422 (GRCm39)	W629*	probably null	Het
Grk5	C	T	19: 61,078,467 (GRCm39)	P508L	possibly damaging	Het
Hgf	A	T	5: 16,766,029 (GRCm39)	D55V	probably damaging	Het
Hipk1	T	A	3: 103,668,890 (GRCm39)	D502V	probably damaging	Het
Kmt2c	T	C	5: 25,489,758 (GRCm39)	K4394E	probably damaging	Het
Llgl2	A	G	11: 115,740,467 (GRCm39)	T388A	probably damaging	Het
Lsm14a	G	T	7: 34,088,898 (GRCm39)	S2R	probably damaging	Het
Madd	A	T	2: 91,000,544 (GRCm39)	M507K	possibly damaging	Het
Map2k3	G	T	11: 60,837,472 (GRCm39)	V191L		Het
Mapk8ip1	A	G	2: 92,217,060 (GRCm39)	S421P	probably damaging	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Myc	T	G	15: 61,859,935 (GRCm39)	C204G	probably damaging	Het
Nampt	A	G	12: 32,900,528 (GRCm39)	H491R	possibly damaging	Het
Noct	C	T	3: 51,157,267 (GRCm39)	Q202*	probably null	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or10b1	T	A	10: 78,355,949 (GRCm39)	F169Y	probably damaging	Het
Osbpl10	G	A	9: 115,052,804 (GRCm39)	V451M	probably damaging	Het
Osr2	T	A	15: 35,303,061 (GRCm39)	F312Y	probably benign	Het
Parp16	A	T	9: 65,137,097 (GRCm39)	I108F	possibly damaging	Het
Pnpla8	A	G	12: 44,330,657 (GRCm39)	I374V	probably benign	Het
Prss23	T	C	7: 89,159,931 (GRCm39)	N46S	probably benign	Het
Ptger2	T	C	14: 45,226,476 (GRCm39)	W19R	possibly damaging	Het
Rbl2	T	C	8: 91,805,527 (GRCm39)	S195P	probably damaging	Het
Rnf169	C	T	7: 99,575,477 (GRCm39)	V373I	probably damaging	Het
Sclt1	C	A	3: 41,629,837 (GRCm39)	E325*	probably null	Het
Sergef	C	T	7: 46,284,913 (GRCm39)	S43N	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc3a2	T	C	19: 8,685,370 (GRCm39)	D472G	probably damaging	Het
Slc43a3	T	C	2: 84,780,800 (GRCm39)	F342L	probably benign	Het
Slc44a4	A	T	17: 35,140,670 (GRCm39)	I288F	probably benign	Het
Snupn	T	A	9: 56,877,915 (GRCm39)	N151K	possibly damaging	Het
Srbd1	A	T	17: 86,437,550 (GRCm39)	D264E	probably benign	Het
Srpra	A	T	9: 35,125,569 (GRCm39)	T378S	probably benign	Het
Stat4	A	G	1: 52,141,762 (GRCm39)	D613G	possibly damaging	Het
Sycp2l	C	T	13: 41,326,132 (GRCm39)	P246L		Het
Tcf20	T	C	15: 82,736,037 (GRCm39)	R1805G	probably benign	Het
Tob1	T	A	11: 94,104,880 (GRCm39)	F139I	probably damaging	Het
Traj9	A	G	14: 54,446,871 (GRCm39)	T8A	unknown	Het
Trank1	G	T	9: 111,220,537 (GRCm39)	D2425Y	probably damaging	Het
Ttn	G	A	2: 76,738,071 (GRCm39)	S4202L	unknown	Het
Ttn	A	T	2: 76,577,267 (GRCm39)	M24542K	probably damaging	Het
Vcam1	T	C	3: 115,911,105 (GRCm39)	Y431C	probably damaging	Het
Vcpkmt	G	A	12: 69,627,936 (GRCm39)	R175C	probably damaging	Het
Vmn2r51	A	T	7: 9,839,479 (GRCm39)	D36E	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp831	T	C	2: 174,487,938 (GRCm39)	L871P	possibly damaging	Het

Other mutations in Parp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Parp4	APN	14	56,853,917 (GRCm39)	missense	possibly damaging	0.82
IGL00571:Parp4	APN	14	56,884,810 (GRCm39)	missense	unknown
IGL00737:Parp4	APN	14	56,821,620 (GRCm39)	missense	probably damaging	0.99
IGL00793:Parp4	APN	14	56,840,334 (GRCm39)	missense	possibly damaging	0.73
IGL01108:Parp4	APN	14	56,844,897 (GRCm39)	missense	probably benign	0.01
IGL01131:Parp4	APN	14	56,823,217 (GRCm39)	splice site	probably benign
IGL01485:Parp4	APN	14	56,859,661 (GRCm39)	missense	possibly damaging	0.54
IGL01704:Parp4	APN	14	56,839,783 (GRCm39)	missense	probably damaging	0.99
IGL01993:Parp4	APN	14	56,848,245 (GRCm39)	missense	possibly damaging	0.82
IGL02125:Parp4	APN	14	56,827,959 (GRCm39)	missense	probably benign	0.33
IGL02851:Parp4	APN	14	56,886,326 (GRCm39)	missense	unknown
IGL02863:Parp4	APN	14	56,886,243 (GRCm39)	missense	unknown
IGL03065:Parp4	APN	14	56,875,326 (GRCm39)	missense	probably benign	0.09
IGL03117:Parp4	APN	14	56,840,313 (GRCm39)	missense	probably benign	0.17
IGL03271:Parp4	APN	14	56,823,082 (GRCm39)	missense	probably benign	0.10
IGL03309:Parp4	APN	14	56,825,265 (GRCm39)	missense	probably benign	0.11
IGL03408:Parp4	APN	14	56,839,865 (GRCm39)	missense	probably damaging	0.99
poisonous	UTSW	14	56,873,205 (GRCm39)	missense	possibly damaging	0.65
R0515_Parp4_195	UTSW	14	56,851,124 (GRCm39)	missense	probably damaging	1.00
toxic	UTSW	14	56,866,615 (GRCm39)	missense	probably benign	0.28
venomous	UTSW	14	56,827,355 (GRCm39)	missense	possibly damaging	0.92
virulent	UTSW	14	56,825,235 (GRCm39)	missense	probably damaging	0.97
R0278:Parp4	UTSW	14	56,844,980 (GRCm39)	missense	probably damaging	0.99
R0320:Parp4	UTSW	14	56,825,953 (GRCm39)	critical splice donor site	probably null
R0445:Parp4	UTSW	14	56,840,205 (GRCm39)	splice site	probably null
R0452:Parp4	UTSW	14	56,886,300 (GRCm39)	missense	unknown
R0511:Parp4	UTSW	14	56,873,172 (GRCm39)	splice site	probably benign
R0515:Parp4	UTSW	14	56,851,124 (GRCm39)	missense	probably damaging	1.00
R0608:Parp4	UTSW	14	56,839,861 (GRCm39)	missense	probably damaging	1.00
R0800:Parp4	UTSW	14	56,827,408 (GRCm39)	missense	probably benign	0.00
R0959:Parp4	UTSW	14	56,885,576 (GRCm39)	missense	unknown
R1207:Parp4	UTSW	14	56,885,339 (GRCm39)	missense	unknown
R1207:Parp4	UTSW	14	56,885,339 (GRCm39)	missense	unknown
R1342:Parp4	UTSW	14	56,827,854 (GRCm39)	missense	probably damaging	1.00
R1520:Parp4	UTSW	14	56,835,863 (GRCm39)	missense	probably damaging	1.00
R1565:Parp4	UTSW	14	56,827,329 (GRCm39)	splice site	probably benign
R1574:Parp4	UTSW	14	56,839,752 (GRCm39)	missense	probably damaging	0.98
R1574:Parp4	UTSW	14	56,839,752 (GRCm39)	missense	probably damaging	0.98
R1649:Parp4	UTSW	14	56,827,885 (GRCm39)	missense	possibly damaging	0.95
R1666:Parp4	UTSW	14	56,861,620 (GRCm39)	missense	possibly damaging	0.91
R1781:Parp4	UTSW	14	56,864,838 (GRCm39)	splice site	probably null
R1799:Parp4	UTSW	14	56,885,589 (GRCm39)	missense	unknown
R1823:Parp4	UTSW	14	56,827,329 (GRCm39)	splice site	probably benign
R1859:Parp4	UTSW	14	56,886,372 (GRCm39)	missense	unknown
R1919:Parp4	UTSW	14	56,861,474 (GRCm39)	missense	probably damaging	1.00
R2000:Parp4	UTSW	14	56,851,181 (GRCm39)	missense	probably damaging	0.98
R2032:Parp4	UTSW	14	56,866,553 (GRCm39)	missense	possibly damaging	0.71
R2034:Parp4	UTSW	14	56,871,720 (GRCm39)	missense	probably damaging	1.00
R2177:Parp4	UTSW	14	56,896,746 (GRCm39)	missense	unknown
R2291:Parp4	UTSW	14	56,851,274 (GRCm39)	missense	probably damaging	1.00
R2865:Parp4	UTSW	14	56,851,181 (GRCm39)	missense	probably damaging	0.98
R3012:Parp4	UTSW	14	56,832,873 (GRCm39)	critical splice donor site	probably null
R3841:Parp4	UTSW	14	56,825,235 (GRCm39)	missense	probably damaging	0.97
R3913:Parp4	UTSW	14	56,857,975 (GRCm39)	missense	probably damaging	1.00
R4064:Parp4	UTSW	14	56,861,597 (GRCm39)	missense	probably benign	0.06
R4201:Parp4	UTSW	14	56,829,848 (GRCm39)	missense	possibly damaging	0.95
R4288:Parp4	UTSW	14	56,844,951 (GRCm39)	missense	probably damaging	1.00
R4360:Parp4	UTSW	14	56,866,661 (GRCm39)	missense	possibly damaging	0.89
R4506:Parp4	UTSW	14	56,889,761 (GRCm39)	missense	unknown
R4577:Parp4	UTSW	14	56,827,867 (GRCm39)	missense	probably benign	0.33
R4633:Parp4	UTSW	14	56,885,048 (GRCm39)	missense	unknown
R4762:Parp4	UTSW	14	56,848,267 (GRCm39)	missense	probably damaging	1.00
R4836:Parp4	UTSW	14	56,823,195 (GRCm39)	missense	probably benign	0.00
R4974:Parp4	UTSW	14	56,827,355 (GRCm39)	missense	possibly damaging	0.92
R5049:Parp4	UTSW	14	56,873,188 (GRCm39)	missense	possibly damaging	0.81
R5479:Parp4	UTSW	14	56,861,552 (GRCm39)	missense	probably benign	0.01
R5683:Parp4	UTSW	14	56,884,886 (GRCm39)	nonsense	probably null
R5884:Parp4	UTSW	14	56,852,207 (GRCm39)	missense	probably damaging	1.00
R5965:Parp4	UTSW	14	56,861,489 (GRCm39)	missense	probably benign	0.11
R6001:Parp4	UTSW	14	56,878,740 (GRCm39)	missense	probably benign	0.01
R6027:Parp4	UTSW	14	56,866,615 (GRCm39)	missense	probably benign	0.28
R6230:Parp4	UTSW	14	56,844,990 (GRCm39)	missense	probably damaging	1.00
R6242:Parp4	UTSW	14	56,832,856 (GRCm39)	nonsense	probably null
R6355:Parp4	UTSW	14	56,839,757 (GRCm39)	missense	possibly damaging	0.61
R6414:Parp4	UTSW	14	56,864,838 (GRCm39)	splice site	probably null
R6418:Parp4	UTSW	14	56,858,108 (GRCm39)	critical splice donor site	probably null
R6477:Parp4	UTSW	14	56,884,694 (GRCm39)	missense	probably benign	0.00
R6542:Parp4	UTSW	14	56,885,339 (GRCm39)	missense	unknown
R6759:Parp4	UTSW	14	56,857,947 (GRCm39)	missense	probably benign	0.10
R6995:Parp4	UTSW	14	56,851,196 (GRCm39)	missense	probably damaging	0.97
R7002:Parp4	UTSW	14	56,839,861 (GRCm39)	missense	probably damaging	1.00
R7026:Parp4	UTSW	14	56,858,049 (GRCm39)	missense	probably benign	0.01
R7062:Parp4	UTSW	14	56,852,216 (GRCm39)	missense	possibly damaging	0.48
R7101:Parp4	UTSW	14	56,827,430 (GRCm39)	missense	probably benign	0.02
R7124:Parp4	UTSW	14	56,840,256 (GRCm39)	missense	probably benign	0.11
R7162:Parp4	UTSW	14	56,886,333 (GRCm39)	missense	unknown
R7293:Parp4	UTSW	14	56,885,303 (GRCm39)	small deletion	probably benign
R7297:Parp4	UTSW	14	56,885,138 (GRCm39)	missense	not run
R7337:Parp4	UTSW	14	56,839,852 (GRCm39)	missense	probably damaging	1.00
R7539:Parp4	UTSW	14	56,873,212 (GRCm39)	missense	probably damaging	1.00
R7575:Parp4	UTSW	14	56,875,375 (GRCm39)	missense	probably benign	0.28
R7808:Parp4	UTSW	14	56,873,205 (GRCm39)	missense	possibly damaging	0.65
R7854:Parp4	UTSW	14	56,896,805 (GRCm39)	missense	unknown
R7960:Parp4	UTSW	14	56,832,708 (GRCm39)	splice site	probably null
R8152:Parp4	UTSW	14	56,884,703 (GRCm39)	missense	probably benign	0.00
R8344:Parp4	UTSW	14	56,886,186 (GRCm39)	missense	unknown
R8416:Parp4	UTSW	14	56,825,271 (GRCm39)	critical splice donor site	probably null
R8726:Parp4	UTSW	14	56,866,556 (GRCm39)	missense	probably benign	0.04
R8752:Parp4	UTSW	14	56,886,073 (GRCm39)	missense	unknown
R8804:Parp4	UTSW	14	56,853,900 (GRCm39)	nonsense	probably null
R9046:Parp4	UTSW	14	56,864,927 (GRCm39)	missense	probably damaging	0.98
R9176:Parp4	UTSW	14	56,873,274 (GRCm39)	missense	possibly damaging	0.54
R9303:Parp4	UTSW	14	56,852,224 (GRCm39)	critical splice donor site	probably null
R9303:Parp4	UTSW	14	56,832,790 (GRCm39)	frame shift	probably null
R9305:Parp4	UTSW	14	56,852,224 (GRCm39)	critical splice donor site	probably null
R9305:Parp4	UTSW	14	56,832,790 (GRCm39)	frame shift	probably null
R9360:Parp4	UTSW	14	56,878,775 (GRCm39)	critical splice donor site	probably null
R9430:Parp4	UTSW	14	56,866,673 (GRCm39)	missense	probably damaging	1.00
R9491:Parp4	UTSW	14	56,832,828 (GRCm39)	missense	probably damaging	0.99
RF020:Parp4	UTSW	14	56,884,806 (GRCm39)	missense	unknown
Z1177:Parp4	UTSW	14	56,829,824 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTACTGGCAGCACCCACC -3'
(R):5'- GAGCAAAGTACGTTGGTGAC -3'

Sequencing Primer
(F):5'- GGTGGCACCCATCTTCC -3'
(R):5'- TGGTGACAAGAGGAGGGGC -3'

Posted On

2022-10-06