Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Parp12'

405014

Institutional Source

Beutler Lab

Gene Symbol

Parp12

Ensembl Gene

ENSMUSG00000038507

Gene Name

poly (ADP-ribose) polymerase family, member 12

Synonyms

Zc3hdc1

MMRRC Submission

042907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39086410-39118349 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39102612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 321 (D321E)

Ref Sequence

ENSEMBL: ENSMUSP00000039704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038398]

AlphaFold

Q8BZ20

Predicted Effect

probably damaging
Transcript: ENSMUST00000038398
AA Change: D321E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: D321E

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	17	32	N/A	INTRINSIC
low complexity region	51	83	N/A	INTRINSIC
ZnF_C3H1	99	127	2.79e1	SMART
ZnF_C3H1	186	210	1.36e-2	SMART
ZnF_C3H1	280	306	2.03e1	SMART
Pfam:WWE	385	468	1.3e-16	PFAM
Pfam:PARP	506	689	5.2e-48	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,907		probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,569,835	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,561,359	R277*	probably null	Het
Cbl	A	T	9: 44,154,254	S659T	probably damaging	Het
Col14a1	A	T	15: 55,338,445	H43L	unknown	Het
Corin	A	G	5: 72,435,257	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,702,369	N401S	probably benign	Het
Dip2a	T	C	10: 76,296,393	D508G	probably damaging	Het
Dnah2	T	A	11: 69,457,993	H2556L	probably benign	Het
Dock8	T	C	19: 25,163,094	F1333L	probably benign	Het
Epg5	A	G	18: 77,962,445	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,608,880		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hbp1	T	C	12: 31,928,618	N510S	probably damaging	Het
Lrguk	T	C	6: 34,073,797	S397P	possibly damaging	Het
Mmrn1	A	T	6: 60,976,586	D617V	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
N6amt1	A	G	16: 87,354,353	D34G	probably damaging	Het
Nktr	A	T	9: 121,727,346	D30V	probably damaging	Het
Olfr1151	A	T	2: 87,857,696	I174F	probably damaging	Het
Olfr598	T	A	7: 103,329,050	M188K	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,625	F314L	probably damaging	Het
Papln	G	A	12: 83,774,571	V226M	probably damaging	Het
Plch2	T	A	4: 154,984,534	T1107S	probably benign	Het
Psma2	T	C	13: 14,625,217	L182P	probably damaging	Het
Rcl1	A	G	19: 29,128,001	Y196C	probably benign	Het
Rdh16	G	A	10: 127,801,267	V24M	probably damaging	Het
Rpe65	A	G	3: 159,604,404	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,640,294	I371T	probably damaging	Het
Tet2	T	C	3: 133,485,913	N920S	probably benign	Het
Tmem71	C	T	15: 66,555,214	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,556,978	D27V	possibly damaging	Het
Zxdc	T	A	6: 90,373,800	I411N	probably damaging	Het

Other mutations in Parp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Parp12	APN	6	39096590	missense	probably benign	0.01
IGL02937:Parp12	APN	6	39102581	missense	probably damaging	1.00
IGL03032:Parp12	APN	6	39087586	splice site	probably null
IGL03149:Parp12	APN	6	39114231	missense	probably benign	0.07
IGL03365:Parp12	APN	6	39102647	missense	probably damaging	1.00
I1329:Parp12	UTSW	6	39087571	missense	probably damaging	1.00
R1016:Parp12	UTSW	6	39111726	missense	probably damaging	1.00
R1446:Parp12	UTSW	6	39102561	missense	probably benign	0.00
R1640:Parp12	UTSW	6	39096640	missense	probably benign	0.38
R1640:Parp12	UTSW	6	39111678	missense	probably damaging	1.00
R4794:Parp12	UTSW	6	39117810	missense	probably benign	0.02
R5411:Parp12	UTSW	6	39090208	missense	probably damaging	1.00
R6862:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R6864:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R6865:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7124:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7126:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7935:Parp12	UTSW	6	39102678	missense	possibly damaging	0.70
R8050:Parp12	UTSW	6	39089104	missense	probably damaging	1.00
R8403:Parp12	UTSW	6	39091345	missense	probably benign	0.06
R8686:Parp12	UTSW	6	39117922	missense	probably benign	0.00
R8792:Parp12	UTSW	6	39089050	missense	probably benign	0.00
R8813:Parp12	UTSW	6	39096574	missense	probably damaging	1.00
R9797:Parp12	UTSW	6	39090251	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCCAGATCAAGCTTTGGG -3'
(R):5'- ATGTTCTCAGGTCAATAATCAGGAC -3'

Sequencing Primer
(F):5'- CCAGATCAAGCTTTGGGGTGTG -3'
(R):5'- AGGACCATTCCCATTGACTG -3'

Posted On

2016-07-22