Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Parp4'

236959

Institutional Source

Beutler Lab

Gene Symbol

Parp4

Ensembl Gene

ENSMUSG00000054509

Gene Name

poly (ADP-ribose) polymerase family, member 4

Synonyms

p193, Adprtl1, E230037B21Rik, PH5P, VAULT3, VPARP, C030027K23Rik

MMRRC Submission

040179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56575619-56659794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56659289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1923 (R1923S)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

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

AlphaFold

E9PYK3

Predicted Effect

unknown
Transcript: ENSMUST00000161553
AA Change: R1923S

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: R1923S

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: ENSMUST00000162312

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,453 (GRCm38)	N356K	probably damaging	Het
Acap2	C	T	16: 31,133,528 (GRCm38)		probably null	Het
Adamts19	T	C	18: 58,954,554 (GRCm38)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,777,228 (GRCm38)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,442,521 (GRCm38)	C210*	probably null	Het
Apoa1	A	T	9: 46,230,073 (GRCm38)	K156*	probably null	Het
AW551984	G	A	9: 39,599,815 (GRCm38)	R159C	probably benign	Het
Bok	C	T	1: 93,695,065 (GRCm38)	Q112*	probably null	Het
Cfap57	T	G	4: 118,606,688 (GRCm38)	I323L	probably benign	Het
Cfap69	T	A	5: 5,625,803 (GRCm38)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,474,697 (GRCm38)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,014,600 (GRCm38)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,266,447 (GRCm38)	T115S	probably benign	Het
Csf1r	T	A	18: 61,114,943 (GRCm38)		probably benign	Het
Ddx6	A	G	9: 44,627,731 (GRCm38)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,653,393 (GRCm38)	H452R	probably benign	Het
Dscam	T	A	16: 96,610,324 (GRCm38)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,882,890 (GRCm38)		probably null	Het
Fcho1	A	G	8: 71,712,261 (GRCm38)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,934,432 (GRCm38)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,265,670 (GRCm38)	S599P	probably benign	Het
Iqce	T	C	5: 140,691,593 (GRCm38)		probably benign	Het
Kat2a	A	G	11: 100,710,822 (GRCm38)	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,969,271 (GRCm38)	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,986,449 (GRCm38)	V43A	probably damaging	Het
Maea	C	G	5: 33,371,690 (GRCm38)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,632,531 (GRCm38)	I308N	probably damaging	Het
Marf1	G	T	16: 14,152,607 (GRCm38)	R83S	probably benign	Het
Me3	A	C	7: 89,633,070 (GRCm38)	T54P	probably benign	Het
Mme	A	T	3: 63,301,005 (GRCm38)	I63L	probably benign	Het
Mmel1	A	G	4: 154,894,103 (GRCm38)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,552,380 (GRCm38)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,331,469 (GRCm38)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,355,261 (GRCm38)	T947S	probably benign	Het
Olfr297	G	A	7: 86,527,662 (GRCm38)	V302I	probably benign	Het
Olfr32	T	A	2: 90,138,464 (GRCm38)	H225L	possibly damaging	Het
Olfr922	A	T	9: 38,816,186 (GRCm38)	I228F	possibly damaging	Het
Pcm1	T	C	8: 41,275,965 (GRCm38)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,459,395 (GRCm38)	S26G	probably benign	Het
Prom1	A	T	5: 44,026,739 (GRCm38)	H433Q	possibly damaging	Het
Rab7	T	C	6: 88,005,081 (GRCm38)	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,724,062 (GRCm38)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,427,667 (GRCm38)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm38)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 23,996,289 (GRCm38)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,704,401 (GRCm38)	T910A	probably benign	Het
Sesn1	A	G	10: 41,903,782 (GRCm38)	H345R	possibly damaging	Het
Snx4	T	A	16: 33,286,058 (GRCm38)		probably null	Het
Tchh	A	G	3: 93,444,132 (GRCm38)	E293G	unknown	Het
Tmem2	T	C	19: 21,811,785 (GRCm38)	S528P	possibly damaging	Het
Ulk2	T	A	11: 61,791,509 (GRCm38)	T727S	probably benign	Het
Usp53	T	C	3: 122,936,057 (GRCm38)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 85,221,915 (GRCm38)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,996,631 (GRCm38)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,363,269 (GRCm38)	Y263*	probably null	Het
Zfp119b	A	T	17: 55,938,639 (GRCm38)	C516S	probably damaging	Het

Other mutations in Parp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Parp4	APN	14	56,616,460 (GRCm38)	missense	possibly damaging	0.82
IGL00571:Parp4	APN	14	56,647,353 (GRCm38)	missense	unknown
IGL00737:Parp4	APN	14	56,584,163 (GRCm38)	missense	probably damaging	0.99
IGL00793:Parp4	APN	14	56,602,877 (GRCm38)	missense	possibly damaging	0.73
IGL01108:Parp4	APN	14	56,607,440 (GRCm38)	missense	probably benign	0.01
IGL01131:Parp4	APN	14	56,585,760 (GRCm38)	splice site	probably benign
IGL01485:Parp4	APN	14	56,622,204 (GRCm38)	missense	possibly damaging	0.54
IGL01704:Parp4	APN	14	56,602,326 (GRCm38)	missense	probably damaging	0.99
IGL01993:Parp4	APN	14	56,610,788 (GRCm38)	missense	possibly damaging	0.82
IGL02125:Parp4	APN	14	56,590,502 (GRCm38)	missense	probably benign	0.33
IGL02851:Parp4	APN	14	56,648,869 (GRCm38)	missense	unknown
IGL02863:Parp4	APN	14	56,648,786 (GRCm38)	missense	unknown
IGL03065:Parp4	APN	14	56,637,869 (GRCm38)	missense	probably benign	0.09
IGL03117:Parp4	APN	14	56,602,856 (GRCm38)	missense	probably benign	0.17
IGL03271:Parp4	APN	14	56,585,625 (GRCm38)	missense	probably benign	0.10
IGL03309:Parp4	APN	14	56,587,808 (GRCm38)	missense	probably benign	0.11
IGL03408:Parp4	APN	14	56,602,408 (GRCm38)	missense	probably damaging	0.99
poisonous	UTSW	14	56,635,748 (GRCm38)	missense	possibly damaging	0.65
R0515_Parp4_195	UTSW	14	56,613,667 (GRCm38)	missense	probably damaging	1.00
toxic	UTSW	14	56,629,158 (GRCm38)	missense	probably benign	0.28
venomous	UTSW	14	56,589,898 (GRCm38)	missense	possibly damaging	0.92
virulent	UTSW	14	56,587,778 (GRCm38)	missense	probably damaging	0.97
R0278:Parp4	UTSW	14	56,607,523 (GRCm38)	missense	probably damaging	0.99
R0320:Parp4	UTSW	14	56,588,496 (GRCm38)	critical splice donor site	probably null
R0445:Parp4	UTSW	14	56,602,748 (GRCm38)	splice site	probably null
R0452:Parp4	UTSW	14	56,648,843 (GRCm38)	missense	unknown
R0511:Parp4	UTSW	14	56,635,715 (GRCm38)	splice site	probably benign
R0515:Parp4	UTSW	14	56,613,667 (GRCm38)	missense	probably damaging	1.00
R0608:Parp4	UTSW	14	56,602,404 (GRCm38)	missense	probably damaging	1.00
R0800:Parp4	UTSW	14	56,589,951 (GRCm38)	missense	probably benign	0.00
R0959:Parp4	UTSW	14	56,648,119 (GRCm38)	missense	unknown
R1207:Parp4	UTSW	14	56,647,882 (GRCm38)	missense	unknown
R1207:Parp4	UTSW	14	56,647,882 (GRCm38)	missense	unknown
R1342:Parp4	UTSW	14	56,590,397 (GRCm38)	missense	probably damaging	1.00
R1520:Parp4	UTSW	14	56,598,406 (GRCm38)	missense	probably damaging	1.00
R1565:Parp4	UTSW	14	56,589,872 (GRCm38)	splice site	probably benign
R1574:Parp4	UTSW	14	56,602,295 (GRCm38)	missense	probably damaging	0.98
R1574:Parp4	UTSW	14	56,602,295 (GRCm38)	missense	probably damaging	0.98
R1649:Parp4	UTSW	14	56,590,428 (GRCm38)	missense	possibly damaging	0.95
R1666:Parp4	UTSW	14	56,624,163 (GRCm38)	missense	possibly damaging	0.91
R1781:Parp4	UTSW	14	56,627,381 (GRCm38)	splice site	probably null
R1799:Parp4	UTSW	14	56,648,132 (GRCm38)	missense	unknown
R1823:Parp4	UTSW	14	56,589,872 (GRCm38)	splice site	probably benign
R1859:Parp4	UTSW	14	56,648,915 (GRCm38)	missense	unknown
R1919:Parp4	UTSW	14	56,624,017 (GRCm38)	missense	probably damaging	1.00
R2000:Parp4	UTSW	14	56,613,724 (GRCm38)	missense	probably damaging	0.98
R2032:Parp4	UTSW	14	56,629,096 (GRCm38)	missense	possibly damaging	0.71
R2034:Parp4	UTSW	14	56,634,263 (GRCm38)	missense	probably damaging	1.00
R2291:Parp4	UTSW	14	56,613,817 (GRCm38)	missense	probably damaging	1.00
R2865:Parp4	UTSW	14	56,613,724 (GRCm38)	missense	probably damaging	0.98
R3012:Parp4	UTSW	14	56,595,416 (GRCm38)	critical splice donor site	probably null
R3841:Parp4	UTSW	14	56,587,778 (GRCm38)	missense	probably damaging	0.97
R3913:Parp4	UTSW	14	56,620,518 (GRCm38)	missense	probably damaging	1.00
R4064:Parp4	UTSW	14	56,624,140 (GRCm38)	missense	probably benign	0.06
R4201:Parp4	UTSW	14	56,592,391 (GRCm38)	missense	possibly damaging	0.95
R4288:Parp4	UTSW	14	56,607,494 (GRCm38)	missense	probably damaging	1.00
R4360:Parp4	UTSW	14	56,629,204 (GRCm38)	missense	possibly damaging	0.89
R4506:Parp4	UTSW	14	56,652,304 (GRCm38)	missense	unknown
R4577:Parp4	UTSW	14	56,590,410 (GRCm38)	missense	probably benign	0.33
R4633:Parp4	UTSW	14	56,647,591 (GRCm38)	missense	unknown
R4762:Parp4	UTSW	14	56,610,810 (GRCm38)	missense	probably damaging	1.00
R4836:Parp4	UTSW	14	56,585,738 (GRCm38)	missense	probably benign	0.00
R4974:Parp4	UTSW	14	56,589,898 (GRCm38)	missense	possibly damaging	0.92
R5049:Parp4	UTSW	14	56,635,731 (GRCm38)	missense	possibly damaging	0.81
R5479:Parp4	UTSW	14	56,624,095 (GRCm38)	missense	probably benign	0.01
R5683:Parp4	UTSW	14	56,647,429 (GRCm38)	nonsense	probably null
R5884:Parp4	UTSW	14	56,614,750 (GRCm38)	missense	probably damaging	1.00
R5965:Parp4	UTSW	14	56,624,032 (GRCm38)	missense	probably benign	0.11
R6001:Parp4	UTSW	14	56,641,283 (GRCm38)	missense	probably benign	0.01
R6027:Parp4	UTSW	14	56,629,158 (GRCm38)	missense	probably benign	0.28
R6230:Parp4	UTSW	14	56,607,533 (GRCm38)	missense	probably damaging	1.00
R6242:Parp4	UTSW	14	56,595,399 (GRCm38)	nonsense	probably null
R6355:Parp4	UTSW	14	56,602,300 (GRCm38)	missense	possibly damaging	0.61
R6414:Parp4	UTSW	14	56,627,381 (GRCm38)	splice site	probably null
R6418:Parp4	UTSW	14	56,620,651 (GRCm38)	critical splice donor site	probably null
R6477:Parp4	UTSW	14	56,647,237 (GRCm38)	missense	probably benign	0.00
R6542:Parp4	UTSW	14	56,647,882 (GRCm38)	missense	unknown
R6759:Parp4	UTSW	14	56,620,490 (GRCm38)	missense	probably benign	0.10
R6995:Parp4	UTSW	14	56,613,739 (GRCm38)	missense	probably damaging	0.97
R7002:Parp4	UTSW	14	56,602,404 (GRCm38)	missense	probably damaging	1.00
R7026:Parp4	UTSW	14	56,620,592 (GRCm38)	missense	probably benign	0.01
R7062:Parp4	UTSW	14	56,614,759 (GRCm38)	missense	possibly damaging	0.48
R7101:Parp4	UTSW	14	56,589,973 (GRCm38)	missense	probably benign	0.02
R7124:Parp4	UTSW	14	56,602,799 (GRCm38)	missense	probably benign	0.11
R7162:Parp4	UTSW	14	56,648,876 (GRCm38)	missense	unknown
R7293:Parp4	UTSW	14	56,647,846 (GRCm38)	small deletion	probably benign
R7297:Parp4	UTSW	14	56,647,681 (GRCm38)	missense	not run
R7337:Parp4	UTSW	14	56,602,395 (GRCm38)	missense	probably damaging	1.00
R7539:Parp4	UTSW	14	56,635,755 (GRCm38)	missense	probably damaging	1.00
R7575:Parp4	UTSW	14	56,637,918 (GRCm38)	missense	probably benign	0.28
R7808:Parp4	UTSW	14	56,635,748 (GRCm38)	missense	possibly damaging	0.65
R7854:Parp4	UTSW	14	56,659,348 (GRCm38)	missense	unknown
R7960:Parp4	UTSW	14	56,595,251 (GRCm38)	splice site	probably null
R8152:Parp4	UTSW	14	56,647,246 (GRCm38)	missense	probably benign	0.00
R8344:Parp4	UTSW	14	56,648,729 (GRCm38)	missense	unknown
R8416:Parp4	UTSW	14	56,587,814 (GRCm38)	critical splice donor site	probably null
R8726:Parp4	UTSW	14	56,629,099 (GRCm38)	missense	probably benign	0.04
R8752:Parp4	UTSW	14	56,648,616 (GRCm38)	missense	unknown
R8804:Parp4	UTSW	14	56,616,443 (GRCm38)	nonsense	probably null
R9046:Parp4	UTSW	14	56,627,470 (GRCm38)	missense	probably damaging	0.98
R9176:Parp4	UTSW	14	56,635,817 (GRCm38)	missense	possibly damaging	0.54
R9303:Parp4	UTSW	14	56,614,767 (GRCm38)	critical splice donor site	probably null
R9303:Parp4	UTSW	14	56,595,333 (GRCm38)	frame shift	probably null
R9305:Parp4	UTSW	14	56,614,767 (GRCm38)	critical splice donor site	probably null
R9305:Parp4	UTSW	14	56,595,333 (GRCm38)	frame shift	probably null
R9360:Parp4	UTSW	14	56,641,318 (GRCm38)	critical splice donor site	probably null
R9430:Parp4	UTSW	14	56,629,216 (GRCm38)	missense	probably damaging	1.00
R9491:Parp4	UTSW	14	56,595,371 (GRCm38)	missense	probably damaging	0.99
R9729:Parp4	UTSW	14	56,648,431 (GRCm38)	missense	unknown
RF020:Parp4	UTSW	14	56,647,349 (GRCm38)	missense	unknown
Z1177:Parp4	UTSW	14	56,592,367 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGATGGAAGTCTCAAGATTTTG -3'
(R):5'- GGCTGTAGCTACATTTAACACG -3'

Sequencing Primer
(F):5'- GATTGAATACCACATTGCC -3'
(R):5'- TCTCAGCACTTGGAATGCAG -3'

Posted On

2014-10-02