Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Parp4'

309525

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

040911-MU

Accession Numbers

Essential gene?

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

Stock #

R3913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56813076-56897251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56857975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 869 (E869G)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161382

Predicted Effect

probably damaging
Transcript: ENSMUST00000161553
AA Change: E869G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: E869G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162231

Meta Mutation Damage Score

0.3165

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Adra1d	T	A	2: 131,404,075 (GRCm39)	D5V	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,825,794 (GRCm39)	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Gdpd5	A	G	7: 99,087,546 (GRCm39)	D70G	probably null	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Patj	A	G	4: 98,457,338 (GRCm39)	D1280G	probably damaging	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,105,566 (GRCm39)	I422F	probably benign	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	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
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
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'- ACATGTGCCATAGAGAGCATG -3'
(R):5'- CAGCATGTACTTGTGTCAAGG -3'

Sequencing Primer
(F):5'- CCTTCCCTGTGGCTTGAATAGAAG -3'
(R):5'- TACTTGTGTCAAGGACTAGGGAC -3'

Posted On

2015-04-17