Mutagenetix > Incidental Mutation

Incidental Mutation 'R0781:Parp6'

76633

Institutional Source

Beutler Lab

Gene Symbol

Parp6

Ensembl Gene

ENSMUSG00000025237

Gene Name

poly (ADP-ribose) polymerase family, member 6

Synonyms

2310028P13Rik, 3110038K10Rik, C030013N01Rik, 1700119G14Rik

MMRRC Submission

038961-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R0781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59524567-59557568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59556847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 584 (C584F)

Ref Sequence

ENSEMBL: ENSMUSP00000026267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026267
AA Change: C584F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: C584F

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
Pfam:PARP	450	580	5.6e-15	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000050483
AA Change: C564F

SMART Domains

Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: C564F

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	303	315	N/A	INTRINSIC
SCOP:d1a26_2	409	475	4e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167091

SMART Domains

Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
SCOP:d1a26_2	429	473	4e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000214956
AA Change: C87F

Predicted Effect

probably benign
Transcript: ENSMUST00000216351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217284

Meta Mutation Damage Score

0.6707

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.2%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,180 (GRCm39)	A98S	probably benign	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Ankrd55	A	G	13: 112,517,767 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Csmd1	A	C	8: 15,971,174 (GRCm39)	I3047S	probably benign	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gdf7	C	A	12: 8,351,555 (GRCm39)		probably benign	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Iqcf4	T	C	9: 106,445,860 (GRCm39)	I96V	probably benign	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Itpr3	C	T	17: 27,329,529 (GRCm39)	H1518Y	probably benign	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kntc1	C	T	5: 123,937,965 (GRCm39)		probably benign	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nudt7	G	A	8: 114,862,111 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Opa3	A	G	7: 18,962,524 (GRCm39)		probably benign	Het
Or51e2	A	G	7: 102,392,214 (GRCm39)		probably benign	Het
Or5ac15	A	T	16: 58,940,187 (GRCm39)	V82D	probably damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkhd1	A	T	1: 20,187,708 (GRCm39)	N3533K	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Ppef2	T	C	5: 92,392,689 (GRCm39)	K261R	probably benign	Het
Prdm14	A	G	1: 13,184,585 (GRCm39)	S529P	probably damaging	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Slc26a3	A	T	12: 31,515,812 (GRCm39)	I571F	possibly damaging	Het
Slc5a5	A	T	8: 71,342,864 (GRCm39)	M232K	probably benign	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Ss18l1	G	A	2: 179,697,647 (GRCm39)	S177N	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Tmem108	C	T	9: 103,361,889 (GRCm39)	V566M	probably damaging	Het
Trmu	C	A	15: 85,763,604 (GRCm39)	C9*	probably null	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Vps13c	T	A	9: 67,879,285 (GRCm39)	Y3409N	probably damaging	Het
Xrn1	T	A	9: 95,873,322 (GRCm39)	N695K	probably benign	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Parp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Parp6	APN	9	59,540,242 (GRCm39)	missense	probably damaging	1.00
IGL01366:Parp6	APN	9	59,543,996 (GRCm39)	missense	possibly damaging	0.75
IGL01385:Parp6	APN	9	59,537,895 (GRCm39)	splice site	probably benign
IGL02000:Parp6	APN	9	59,556,175 (GRCm39)	missense	probably benign	0.00
IGL02001:Parp6	APN	9	59,557,244 (GRCm39)	missense	possibly damaging	0.90
IGL02315:Parp6	APN	9	59,549,021 (GRCm39)	intron	probably benign
IGL02719:Parp6	APN	9	59,538,021 (GRCm39)	missense	probably benign	0.26
IGL02928:Parp6	APN	9	59,548,346 (GRCm39)	missense	possibly damaging	0.70
IGL03169:Parp6	APN	9	59,557,300 (GRCm39)	nonsense	probably null
IGL03398:Parp6	APN	9	59,548,336 (GRCm39)	missense	probably damaging	0.97
R0165:Parp6	UTSW	9	59,540,208 (GRCm39)	missense	probably damaging	1.00
R0602:Parp6	UTSW	9	59,556,648 (GRCm39)	splice site	probably benign
R1110:Parp6	UTSW	9	59,556,847 (GRCm39)	missense	probably damaging	0.99
R1730:Parp6	UTSW	9	59,540,821 (GRCm39)	nonsense	probably null
R1783:Parp6	UTSW	9	59,540,821 (GRCm39)	nonsense	probably null
R2264:Parp6	UTSW	9	59,531,288 (GRCm39)	missense	probably damaging	1.00
R4323:Parp6	UTSW	9	59,537,969 (GRCm39)	missense	possibly damaging	0.84
R4654:Parp6	UTSW	9	59,548,383 (GRCm39)	splice site	probably null
R4672:Parp6	UTSW	9	59,547,393 (GRCm39)	missense	probably damaging	1.00
R4673:Parp6	UTSW	9	59,547,393 (GRCm39)	missense	probably damaging	1.00
R4708:Parp6	UTSW	9	59,549,052 (GRCm39)	missense	probably damaging	0.98
R4709:Parp6	UTSW	9	59,549,052 (GRCm39)	missense	probably damaging	0.98
R4763:Parp6	UTSW	9	59,538,648 (GRCm39)	missense	probably damaging	1.00
R4782:Parp6	UTSW	9	59,542,267 (GRCm39)	splice site	probably null
R4825:Parp6	UTSW	9	59,531,645 (GRCm39)	splice site	probably null
R5563:Parp6	UTSW	9	59,535,956 (GRCm39)	splice site	probably null
R5700:Parp6	UTSW	9	59,532,010 (GRCm39)	missense	probably damaging	1.00
R6235:Parp6	UTSW	9	59,538,098 (GRCm39)	missense	probably benign	0.34
R6269:Parp6	UTSW	9	59,557,295 (GRCm39)	missense	probably benign
R6383:Parp6	UTSW	9	59,531,222 (GRCm39)	missense	probably damaging	0.99
R9170:Parp6	UTSW	9	59,531,213 (GRCm39)	missense
X0061:Parp6	UTSW	9	59,538,048 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TTGTGAAGGTATGCAACTCACCCAG -3'
(R):5'- GCCCCAAATAAGCTATCCTTGTCCC -3'

Sequencing Primer
(F):5'- GCAACTCACCCAGTTCATGTC -3'
(R):5'- CTTGTCCCCAAGGAGAAGTC -3'

Posted On

2013-10-16