Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Parp4'

81795

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

039088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R0959 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56885576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1552 (F1552L)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

unknown
Transcript: ENSMUST00000161553
AA Change: F1552L

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: F1552L

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: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	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
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
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'- CTATCACTGGCAGCACCCACCCT -3'
(R):5'- GCTCTGATGCACTGCGGCACTTT -3'

Sequencing Primer
(F):5'- ATATTcctccccctccacctat -3'
(R):5'- GTATCTCCGACAAGTTTATGGC -3'

Posted On

2013-11-08