Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Parp4'

544623

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

045107-MU

Accession Numbers

Essential gene?

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

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56839861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 523 (V523E)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160334

Predicted Effect

probably damaging
Transcript: ENSMUST00000161553
AA Change: V523E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: V523E

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

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,832,390 (GRCm39)	S1308P	probably damaging	Het
Abl2	A	T	1: 156,386,703 (GRCm39)	R29W	probably damaging	Het
Adam6b	C	A	12: 113,453,327 (GRCm39)	S48*	probably null	Het
Adamts18	T	A	8: 114,501,922 (GRCm39)	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,882,810 (GRCm39)	S229G	probably benign	Het
Apol10a	G	A	15: 77,369,046 (GRCm39)	R15H	possibly damaging	Het
Bend4	T	A	5: 67,555,602 (GRCm39)	T535S	probably benign	Het
Blm	T	C	7: 80,119,501 (GRCm39)	K1024R	probably benign	Het
Brca2	T	C	5: 150,463,383 (GRCm39)	V1049A	probably benign	Het
Cerk	T	C	15: 86,040,795 (GRCm39)	Y188C	possibly damaging	Het
Cic	C	T	7: 24,971,621 (GRCm39)	R451C	probably damaging	Het
Col18a1	A	T	10: 77,002,177 (GRCm39)	V10E	unknown	Het
Cplx1	T	A	5: 108,668,182 (GRCm39)	K58M	probably damaging	Het
Crybg1	T	A	10: 43,874,831 (GRCm39)	D759V	probably damaging	Het
Cwc25	A	T	11: 97,638,897 (GRCm39)	N342K	probably damaging	Het
Dab2	A	T	15: 6,464,846 (GRCm39)	T566S	probably benign	Het
Depdc5	G	A	5: 33,034,502 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,058,346 (GRCm39)	N408K	probably benign	Het
Dnah12	T	C	14: 26,598,955 (GRCm39)	I3631T	probably damaging	Het
Dnase1	A	G	16: 3,857,410 (GRCm39)	I236V	possibly damaging	Het
Duox1	C	T	2: 122,150,358 (GRCm39)	Q196*	probably null	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,508 (GRCm39)	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200 (GRCm39)	A1007V	probably benign	Het
Fsip2	T	A	2: 82,819,687 (GRCm39)	I5140N	possibly damaging	Het
Gan	T	C	8: 117,922,586 (GRCm39)	C440R	possibly damaging	Het
Garnl3	T	A	2: 32,944,205 (GRCm39)	H73L	possibly damaging	Het
Gid8	T	G	2: 180,355,096 (GRCm39)	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960 (GRCm39)	L39F	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427 (GRCm39)	S306P	probably damaging	Het
H2bc21	A	G	3: 96,128,689 (GRCm39)	I70V	probably benign	Het
Hdac4	T	G	1: 91,896,083 (GRCm39)	K729T	possibly damaging	Het
Igfbp2	C	T	1: 72,888,804 (GRCm39)	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,394,373 (GRCm39)	I13L	probably benign	Het
Il18r1	G	A	1: 40,514,013 (GRCm39)	S73N	probably benign	Het
Immt	T	C	6: 71,838,024 (GRCm39)	V244A	probably damaging	Het
Irs1	T	C	1: 82,265,981 (GRCm39)	Y745C	probably benign	Het
Itpr3	T	C	17: 27,329,554 (GRCm39)	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,526 (GRCm39)	I45K	probably damaging	Het
Lamp3	G	T	16: 19,474,172 (GRCm39)	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,043,180 (GRCm39)	H528Q	probably benign	Het
Ltn1	A	T	16: 87,220,361 (GRCm39)	D245E	probably benign	Het
Mmut	T	A	17: 41,252,274 (GRCm39)	I272N	possibly damaging	Het
Mnat1	T	C	12: 73,277,479 (GRCm39)		probably benign	Het
Mprip	A	C	11: 59,652,016 (GRCm39)	M1907L	probably benign	Het
Nfu1	C	A	6: 86,993,254 (GRCm39)	H131Q	probably benign	Het
Nup188	T	A	2: 30,213,580 (GRCm39)	S670R	probably damaging	Het
Or5b120	A	G	19: 13,480,039 (GRCm39)	N111D	probably benign	Het
Or8k40	T	C	2: 86,585,025 (GRCm39)	D19G	probably benign	Het
Pals2	C	T	6: 50,139,642 (GRCm39)	P116L	probably benign	Het
Pbrm1	T	A	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Prss40	A	T	1: 34,591,481 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,741,033 (GRCm39)	N274S	probably damaging	Het
Rtl1	T	A	12: 109,560,381 (GRCm39)	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,025,263 (GRCm39)	H291L	possibly damaging	Het
Senp5	A	G	16: 31,802,593 (GRCm39)	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,804,550 (GRCm39)		probably null	Het
Serpina1e	T	C	12: 103,914,338 (GRCm39)	I329V	probably benign	Het
Slc10a4-ps	T	A	5: 72,743,763 (GRCm39)		probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,773 (GRCm39)		unknown	Het
Smc5	A	G	19: 23,209,247 (GRCm39)	V639A	probably benign	Het
Speg	T	A	1: 75,399,912 (GRCm39)	V2453E	probably damaging	Het
Syt2	T	A	1: 134,671,842 (GRCm39)	F207I	probably damaging	Het
Tchp	C	T	5: 114,846,857 (GRCm39)	S48L	probably benign	Het
Trim12a	A	G	7: 103,953,383 (GRCm39)	S243P	possibly damaging	Het
Ttn	T	C	2: 76,628,561 (GRCm39)	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,084,819 (GRCm39)	M188K	probably benign	Het
Vps11	G	A	9: 44,266,376 (GRCm39)	T437I	probably damaging	Het
Xrn1	C	T	9: 95,929,843 (GRCm39)	T1498I	probably benign	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het
Zfp316	T	C	5: 143,249,110 (GRCm39)	D175G	unknown	Het
Zmynd11	A	G	13: 9,744,366 (GRCm39)	L256P	probably 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
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
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'- CGGGAGCCATTATGACTTGTG -3'
(R):5'- ATGAAATGGACGCAAGCCTCTG -3'

Sequencing Primer
(F):5'- AGCCATTATGACTTGTGTTTATTTGC -3'
(R):5'- GCACACTTGGGCCCATTTTG -3'

Posted On

2019-05-13