Mutagenetix > Incidental Mutation

Incidental Mutation 'R1520:Parp4'

167397

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

039564-MU

Accession Numbers

Essential gene?

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

Stock #

R1520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56835863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 469 (I469T)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000161553
AA Change: I469T

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

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: I469T

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,844,664 (GRCm39)	N1491S	possibly damaging	Het
Abcb1b	G	A	5: 8,864,768 (GRCm39)	A249T	probably damaging	Het
Acacb	A	G	5: 114,340,001 (GRCm39)	D804G	possibly damaging	Het
Agpat3	A	T	10: 78,123,857 (GRCm39)	M1K	probably null	Het
Akr1c12	A	C	13: 4,326,298 (GRCm39)	I61R	probably damaging	Het
Antxr2	G	A	5: 98,108,551 (GRCm39)	A320V	probably benign	Het
Aoc1l2	T	A	6: 48,908,231 (GRCm39)	Y410*	probably null	Het
Arhgef1	A	G	7: 24,619,129 (GRCm39)	R454G	probably damaging	Het
C1ql4	T	C	15: 98,985,548 (GRCm39)	H21R	probably benign	Het
Celsr3	T	C	9: 108,725,857 (GRCm39)	S3029P	probably damaging	Het
Chaf1a	T	C	17: 56,354,302 (GRCm39)	C191R	unknown	Het
Corin	A	C	5: 72,488,238 (GRCm39)	C627G	probably damaging	Het
Cyp3a11	T	C	5: 145,799,263 (GRCm39)	Y308C	probably damaging	Het
Cyp4a32	A	G	4: 115,471,849 (GRCm39)	N420S	probably damaging	Het
Eftud2	A	G	11: 102,730,266 (GRCm39)	S889P	probably damaging	Het
Eng	A	G	2: 32,562,953 (GRCm39)	H267R	probably benign	Het
Ep400	A	G	5: 110,839,644 (GRCm39)		probably benign	Het
Fmo9	G	T	1: 166,495,024 (GRCm39)	H292Q	probably benign	Het
Frmpd4	T	C	X: 166,275,949 (GRCm39)	S373G	probably damaging	Het
Fsip2	T	A	2: 82,811,058 (GRCm39)	I2459K	possibly damaging	Het
Gbp5	A	T	3: 142,213,775 (GRCm39)	H523L	probably damaging	Het
Gpr65	T	C	12: 98,241,434 (GRCm39)	V29A	probably benign	Het
Igkv7-33	T	A	6: 70,036,132 (GRCm39)		probably benign	Het
Iqcc	G	A	4: 129,510,762 (GRCm39)	T251I	possibly damaging	Het
Jund	A	G	8: 71,151,923 (GRCm39)	T73A	probably benign	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Mcm8	T	C	2: 132,681,375 (GRCm39)	V617A	probably benign	Het
Mdga1	A	G	17: 30,065,493 (GRCm39)	F646L	probably benign	Het
Morc3	A	G	16: 93,641,129 (GRCm39)	K54E	probably damaging	Het
Mutyh	T	C	4: 116,674,749 (GRCm39)	L357P	probably damaging	Het
Mylk4	T	C	13: 32,896,821 (GRCm39)		probably null	Het
Or4k41	G	A	2: 111,279,619 (GRCm39)	V45I	probably benign	Het
Osbpl3	T	A	6: 50,323,411 (GRCm39)	D224V	possibly damaging	Het
Pkd1l2	A	G	8: 117,772,898 (GRCm39)	V1043A	probably benign	Het
Plod3	A	G	5: 137,020,165 (GRCm39)	N460S	probably damaging	Het
Preb	A	G	5: 31,115,868 (GRCm39)	F192L	probably benign	Het
Prkra	T	C	2: 76,469,622 (GRCm39)	T146A	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rag2	T	C	2: 101,460,476 (GRCm39)	I262T	probably damaging	Het
Rgr	A	G	14: 36,766,672 (GRCm39)	W125R	probably damaging	Het
Rit1	T	A	3: 88,636,620 (GRCm39)	F211I	probably benign	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Serinc2	C	T	4: 130,154,543 (GRCm39)	V234I	probably benign	Het
Srp54b	T	C	12: 55,304,354 (GRCm39)	M434T	possibly damaging	Het
Srrt	C	A	5: 137,297,028 (GRCm39)	R69L	probably damaging	Het
Sv2b	A	G	7: 74,807,077 (GRCm39)	L191P	probably damaging	Het
Tcf12	C	A	9: 71,790,388 (GRCm39)		probably null	Het
Tmem273	A	T	14: 32,527,083 (GRCm39)		probably benign	Het
Tmem87b	T	C	2: 128,681,176 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,647,392 (GRCm39)	E11031G	possibly damaging	Het
Uaca	A	T	9: 60,778,663 (GRCm39)	T1017S	probably benign	Het
Urb1	C	A	16: 90,571,633 (GRCm39)	V1059L	probably benign	Het
V1rd19	G	A	7: 23,702,623 (GRCm39)	A30T	probably damaging	Het
Vldlr	C	T	19: 27,217,943 (GRCm39)	L91F	probably damaging	Het
Vldlr	G	T	19: 27,224,466 (GRCm39)	A770S	possibly damaging	Het
Vmn2r80	A	G	10: 79,030,594 (GRCm39)	T807A	probably damaging	Het
Wwox	C	T	8: 115,438,873 (GRCm39)	P313L	probably benign	Het
Zap70	T	C	1: 36,810,036 (GRCm39)	S49P	probably damaging	Het
Zfp317	A	G	9: 19,559,144 (GRCm39)	I453V	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
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'- GACAGTGGATTTCCTGTTGGTCCC -3'
(R):5'- CCACGTTAGTTGCATGTTCTGAGGC -3'

Sequencing Primer
(F):5'- TCCCTGAGTTTGAAGGCTG -3'
(R):5'- ctaccaagcctgacgacc -3'

Posted On

2014-04-13