Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Parp6'

357036

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

042404-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59524567-59557568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59538648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 241 (P241H)

Ref Sequence

ENSEMBL: ENSMUSP00000148866 (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: P261H

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

SMART Domains

Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: P261H

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

probably damaging
Transcript: ENSMUST00000050483
AA Change: P241H

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

SMART Domains

Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: P241H

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 damaging
Transcript: ENSMUST00000167091
AA Change: P261H

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

SMART Domains

Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: P261H

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

noncoding transcript
Transcript: ENSMUST00000213419

Predicted Effect

probably damaging
Transcript: ENSMUST00000216351
AA Change: P241H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216482

Meta Mutation Damage Score

0.5808

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Abhd2	A	G	7: 79,009,879 (GRCm39)	E418G	probably benign	Het
Acox2	G	T	14: 8,241,334 (GRCm38)	H593N	possibly damaging	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arhgap44	A	G	11: 64,929,991 (GRCm39)	I240T	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp10	C	T	15: 76,117,627 (GRCm39)	V920M	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly damaging	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
R0781:Parp6	UTSW	9	59,556,847 (GRCm39)	missense	probably damaging	0.99
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
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'- CTTGTAAAGATCTTTCCAGCCTTGTG -3'
(R):5'- TCTCTCAGTAATGCTGTGACC -3'

Sequencing Primer
(F):5'- GTGATTACGTAGGCTCATCTAAGC -3'
(R):5'- CAGTAATGCTGTGACCCTCTTAAGG -3'

Posted On

2015-11-11