Mutagenetix > Incidental Mutation

Incidental Mutation 'R9360:Parp4'

708652

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 #

R9360 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 56878775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

probably null
Transcript: ENSMUST00000161553

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509

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: 99.5%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	G	12: 81,468,261 (GRCm39)	L120P	probably damaging	Het
Asb6	A	G	2: 30,714,334 (GRCm39)	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,767,259 (GRCm39)	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,594,336 (GRCm39)	A2274V	probably benign	Het
Caml	A	C	13: 55,771,030 (GRCm39)	N43H	probably damaging	Het
Ccar2	A	G	14: 70,379,445 (GRCm39)	S518P	probably damaging	Het
Cdkl3	A	G	11: 51,924,349 (GRCm39)	I546V	probably null	Het
Chac1	C	T	2: 119,182,854 (GRCm39)	T84I	probably damaging	Het
Col6a6	T	C	9: 105,644,686 (GRCm39)	T1201A	probably benign	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,743,880 (GRCm39)	R353C	probably benign	Het
Depdc1a	A	G	3: 159,232,168 (GRCm39)	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,798,469 (GRCm39)	V633A	probably damaging	Het
Fdft1	A	T	14: 63,415,189 (GRCm39)	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Ftdc1	T	C	16: 58,434,234 (GRCm39)	D161G	probably benign	Het
Gfm2	T	A	13: 97,289,752 (GRCm39)	V179E	probably damaging	Het
Gpr12	A	G	5: 146,520,299 (GRCm39)	F208L	probably benign	Het
Greb1	A	G	12: 16,790,037 (GRCm39)	S4P	probably damaging	Het
Hlcs	A	T	16: 93,932,672 (GRCm39)	I717N	probably damaging	Het
Hormad1	G	A	3: 95,483,622 (GRCm39)	A145T	probably benign	Het
Kcmf1	A	T	6: 72,838,826 (GRCm39)	C33*	probably null	Het
Kif13a	A	T	13: 46,962,472 (GRCm39)	S561T	probably benign	Het
Klhl20	G	T	1: 160,921,269 (GRCm39)	P571Q	probably benign	Het
Kpna6	A	T	4: 129,547,635 (GRCm39)	M304K	probably benign	Het
Krt75	T	C	15: 101,476,729 (GRCm39)	K387E	probably damaging	Het
Lum	A	T	10: 97,404,752 (GRCm39)	K216*	probably null	Het
Meioc	A	G	11: 102,565,779 (GRCm39)	N409S	probably benign	Het
Mrpl20	T	C	4: 155,888,402 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,593,943 (GRCm39)	I374N	probably benign	Het
Nbea	A	G	3: 55,943,319 (GRCm39)	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,194,898 (GRCm39)	G56R	probably damaging	Het
Obscn	T	C	11: 58,973,650 (GRCm39)	I1894V	probably benign	Het
Olig2	A	C	16: 91,023,774 (GRCm39)	T163P	probably damaging	Het
Or13c7c	A	G	4: 43,835,765 (GRCm39)	S242P	probably benign	Het
Or4g7	T	C	2: 111,309,684 (GRCm39)	I185T	probably benign	Het
Or5p81	T	A	7: 108,266,977 (GRCm39)	L118Q	probably damaging	Het
Or7e168	T	A	9: 19,720,529 (GRCm39)	V305D	possibly damaging	Het
Pcdhb2	T	C	18: 37,429,551 (GRCm39)	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,859,787 (GRCm39)	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,549,516 (GRCm39)	M74K	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Rhag	T	C	17: 41,142,548 (GRCm39)	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,616,845 (GRCm39)	*366W	probably null	Het
Sgpp2	A	G	1: 78,367,143 (GRCm39)	D92G	probably damaging	Het
Slc44a3	C	A	3: 121,325,908 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,968,956 (GRCm39)	M257V	probably benign	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tet2	G	T	3: 133,192,903 (GRCm39)	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,550 (GRCm39)	I836M	unknown	Het
Thada	A	G	17: 84,499,410 (GRCm39)	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,115,899 (GRCm39)	D353V	probably damaging	Het
Trf	T	A	9: 103,094,734 (GRCm39)		probably null	Het
Trim15	A	T	17: 37,177,942 (GRCm39)	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,952 (GRCm39)	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,783,165 (GRCm39)	V501A	probably benign	Het
Zfp563	A	G	17: 33,324,428 (GRCm39)	E341G	probably benign	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
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
R9729:Parp4	UTSW	14	56,885,888 (GRCm39)	missense	unknown
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'- TGTTCCAGGAGGACATCTCG -3'
(R):5'- TTATCAGCTGCTTGGAAGGC -3'

Sequencing Primer
(F):5'- AGGACATCTCGGTGGCACAG -3'
(R):5'- CAAACTGGAAAAATACGTCTTC -3'

Posted On

2022-04-18