Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Parp4'

224375

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

040041-MU

Accession Numbers

Essential gene?

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

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56871720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1133 (I1133F)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000161553
AA Change: I1133F

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

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: I1133F

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

Meta Mutation Damage Score

0.1427

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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
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'- GGCAAGAACTCACACAGGTC -3'
(R):5'- TTCGCTAATGAACTCAGCAAACAG -3'

Sequencing Primer
(F):5'- GTCACAGTATATGACCTCCATGC -3'
(R):5'- CTCAGCAAACAGCCACTGAGC -3'

Posted On

2014-08-25