Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:Parp14'

582945

Institutional Source

Beutler Lab

Gene Symbol

Parp14

Ensembl Gene

ENSMUSG00000034422

Gene Name

poly (ADP-ribose) polymerase family, member 14

Synonyms

CoaSt6, collaborator of Stat6, 1600029O10Rik

MMRRC Submission

045597-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35653244-35691914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35677861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 702 (H702Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042665]

AlphaFold

Q2EMV9

PDB Structure

Solution structure of WWE domain in Parp14 protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000042665
AA Change: H702Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: H702Q

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
RRM	228	297	4.71e-2	SMART
coiled coil region	443	468	N/A	INTRINSIC
Blast:A1pp	693	746	6e-6	BLAST
low complexity region	771	795	N/A	INTRINSIC
A1pp	814	948	7.62e-41	SMART
A1pp	1026	1160	5.88e-24	SMART
A1pp	1239	1358	6.82e-20	SMART
PDB:1X4R\|A	1532	1619	9e-53	PDB
Pfam:PARP	1632	1817	2.5e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,221 (GRCm39)	T998A	probably damaging	Het
Aadacl4fm2	A	G	4: 144,291,580 (GRCm39)	F42S	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Akt3	T	A	1: 176,847,673 (GRCm39)	K465*	probably null	Het
Ankar	T	C	1: 72,727,800 (GRCm39)	D371G	probably benign	Het
Ankib1	T	G	5: 3,805,734 (GRCm39)	N178H	possibly damaging	Het
Arhgap10	A	G	8: 78,146,699 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,848,785 (GRCm39)	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,355,477 (GRCm39)		probably benign	Het
Camk4	T	C	18: 33,318,085 (GRCm39)	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,338,293 (GRCm39)	V139E	possibly damaging	Het
Dhrs13	C	A	11: 77,923,260 (GRCm39)	N21K	unknown	Het
Dop1a	C	T	9: 86,388,343 (GRCm39)	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160 (GRCm39)	Q13*	probably null	Het
Ecpas	A	G	4: 58,847,038 (GRCm39)	I508T	possibly damaging	Het
Eif2ak1	T	C	5: 143,823,716 (GRCm39)	S388P	probably damaging	Het
Emilin2	T	C	17: 71,581,974 (GRCm39)	S251G	probably benign	Het
Eml4	T	A	17: 83,753,379 (GRCm39)	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,317,391 (GRCm39)	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,425,239 (GRCm39)	N264I	probably benign	Het
Gzme	A	C	14: 56,356,790 (GRCm39)	D57E	probably benign	Het
H2-D1	A	G	17: 35,484,909 (GRCm39)	T257A	probably damaging	Het
Hectd4	C	A	5: 121,481,728 (GRCm39)	D3092E	possibly damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Hspbp1	A	G	7: 4,666,435 (GRCm39)	L315P	probably damaging	Het
Insr	A	T	8: 3,242,642 (GRCm39)	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,637,727 (GRCm39)	I582N	probably damaging	Het
Lrit2	A	G	14: 36,794,450 (GRCm39)	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,547,428 (GRCm39)	N4251K		Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Mgam	T	G	6: 40,742,954 (GRCm39)	N1791K	probably benign	Het
Mroh7	A	T	4: 106,566,899 (GRCm39)	I450N	probably benign	Het
Mylk	G	A	16: 34,809,357 (GRCm39)	M1771I	probably benign	Het
Or10ak12	A	T	4: 118,666,691 (GRCm39)	F123L	probably damaging	Het
Or51aa2	A	T	7: 103,188,338 (GRCm39)	C34*	probably null	Het
Or8d1	A	T	9: 38,766,534 (GRCm39)	M59L	possibly damaging	Het
Or8g55	T	A	9: 39,785,435 (GRCm39)	L288*	probably null	Het
Pcdhga1	T	C	18: 37,795,281 (GRCm39)	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,619,954 (GRCm39)	T373A	probably damaging	Het
Pdzph1	A	G	17: 59,274,336 (GRCm39)	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,570,081 (GRCm39)	N322I	probably benign	Het
Pikfyve	C	T	1: 65,283,585 (GRCm39)	R741*	probably null	Het
Pip4k2c	A	G	10: 127,044,773 (GRCm39)	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,057,445 (GRCm39)	F271L	probably damaging	Het
Prkdc	A	T	16: 15,490,191 (GRCm39)	Y565F	probably damaging	Het
Prom2	T	C	2: 127,374,701 (GRCm39)	R612G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,455,450 (GRCm39)	K446N	probably benign	Het
Slc39a12	T	A	2: 14,499,272 (GRCm39)	M661K	probably benign	Het
Slc6a16	T	C	7: 44,908,537 (GRCm39)	L39P	probably benign	Het
Syne1	T	G	10: 5,135,559 (GRCm39)		probably null	Het
Taar8c	T	C	10: 23,977,764 (GRCm39)	N16S	probably benign	Het
Tmem98	A	G	11: 80,708,344 (GRCm39)	T105A	probably damaging	Het
Tmub1	T	A	5: 24,651,011 (GRCm39)	Y216F	probably damaging	Het
Trim16	T	G	11: 62,711,580 (GRCm39)	C84G	probably damaging	Het
Ttn	T	A	2: 76,561,573 (GRCm39)	K28978*	probably null	Het
Usp38	A	G	8: 81,740,875 (GRCm39)	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,576,406 (GRCm39)	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,610,510 (GRCm39)	W61R	probably benign	Het
Whamm	G	T	7: 81,243,598 (GRCm39)	G607C	probably damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp398	A	G	6: 47,842,752 (GRCm39)	D268G	probably benign	Het

Other mutations in Parp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Parp14	APN	16	35,661,445 (GRCm39)	missense	probably benign	0.00
IGL00497:Parp14	APN	16	35,655,206 (GRCm39)	missense	probably damaging	1.00
IGL00754:Parp14	APN	16	35,659,741 (GRCm39)	missense	probably benign	0.15
IGL00960:Parp14	APN	16	35,661,589 (GRCm39)	missense	probably benign	0.20
IGL01321:Parp14	APN	16	35,676,929 (GRCm39)	missense	probably benign
IGL01397:Parp14	APN	16	35,679,098 (GRCm39)	missense	probably benign	0.19
IGL01591:Parp14	APN	16	35,678,877 (GRCm39)	missense	possibly damaging	0.71
IGL01728:Parp14	APN	16	35,677,805 (GRCm39)	missense	probably damaging	1.00
IGL01734:Parp14	APN	16	35,678,970 (GRCm39)	missense	probably benign	0.00
IGL02156:Parp14	APN	16	35,678,967 (GRCm39)	missense	probably benign	0.13
IGL02951:Parp14	APN	16	35,678,903 (GRCm39)	missense	probably benign	0.06
IGL03067:Parp14	APN	16	35,676,878 (GRCm39)	missense	probably benign	0.10
IGL03135:Parp14	APN	16	35,678,381 (GRCm39)	missense	probably damaging	1.00
IGL03141:Parp14	APN	16	35,659,663 (GRCm39)	missense	probably benign	0.00
IGL03146:Parp14	APN	16	35,678,823 (GRCm39)	nonsense	probably null
IGL03333:Parp14	APN	16	35,661,800 (GRCm39)	missense	probably benign	0.08
IGL03391:Parp14	APN	16	35,678,640 (GRCm39)	missense	probably benign
thurston	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
PIT4585001:Parp14	UTSW	16	35,678,975 (GRCm39)	missense	probably benign	0.03
R0306:Parp14	UTSW	16	35,676,944 (GRCm39)	missense	probably benign
R0506:Parp14	UTSW	16	35,661,779 (GRCm39)	missense	possibly damaging	0.70
R0586:Parp14	UTSW	16	35,661,382 (GRCm39)	missense	probably benign	0.00
R0606:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0612:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0699:Parp14	UTSW	16	35,680,955 (GRCm39)	missense	probably damaging	1.00
R0786:Parp14	UTSW	16	35,661,172 (GRCm39)	missense	possibly damaging	0.86
R0883:Parp14	UTSW	16	35,678,888 (GRCm39)	missense	probably benign	0.03
R0900:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1087:Parp14	UTSW	16	35,678,658 (GRCm39)	missense	probably damaging	1.00
R1104:Parp14	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
R1120:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1134:Parp14	UTSW	16	35,655,272 (GRCm39)	missense	probably damaging	1.00
R1153:Parp14	UTSW	16	35,678,041 (GRCm39)	missense	possibly damaging	0.49
R1159:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1160:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1237:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1238:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1239:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1423:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1511:Parp14	UTSW	16	35,677,594 (GRCm39)	missense	probably benign	0.00
R1518:Parp14	UTSW	16	35,677,008 (GRCm39)	missense	possibly damaging	0.79
R1619:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1707:Parp14	UTSW	16	35,678,219 (GRCm39)	missense	probably damaging	1.00
R1792:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1831:Parp14	UTSW	16	35,678,958 (GRCm39)	missense	possibly damaging	0.77
R1840:Parp14	UTSW	16	35,683,819 (GRCm39)	missense	probably damaging	1.00
R1889:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1902:Parp14	UTSW	16	35,673,888 (GRCm39)	critical splice donor site	probably null
R1943:Parp14	UTSW	16	35,656,499 (GRCm39)	missense	probably damaging	1.00
R1954:Parp14	UTSW	16	35,678,671 (GRCm39)	missense	probably benign	0.08
R2115:Parp14	UTSW	16	35,678,904 (GRCm39)	missense	probably benign	0.16
R2216:Parp14	UTSW	16	35,677,575 (GRCm39)	missense	probably benign	0.00
R2519:Parp14	UTSW	16	35,678,573 (GRCm39)	missense	possibly damaging	0.95
R3851:Parp14	UTSW	16	35,674,118 (GRCm39)	missense	possibly damaging	0.92
R4052:Parp14	UTSW	16	35,678,771 (GRCm39)	missense	probably benign	0.05
R4671:Parp14	UTSW	16	35,678,691 (GRCm39)	missense	probably benign	0.00
R4867:Parp14	UTSW	16	35,677,697 (GRCm39)	missense	probably benign	0.01
R4941:Parp14	UTSW	16	35,666,403 (GRCm39)	missense	probably benign
R4992:Parp14	UTSW	16	35,661,512 (GRCm39)	missense	probably benign	0.05
R5055:Parp14	UTSW	16	35,664,733 (GRCm39)	missense	probably benign	0.00
R5073:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
R5170:Parp14	UTSW	16	35,677,649 (GRCm39)	missense	probably benign	0.21
R5422:Parp14	UTSW	16	35,686,545 (GRCm39)	missense	probably benign	0.01
R5543:Parp14	UTSW	16	35,655,137 (GRCm39)	missense	probably benign	0.00
R5549:Parp14	UTSW	16	35,661,505 (GRCm39)	missense	probably benign	0.00
R5553:Parp14	UTSW	16	35,677,306 (GRCm39)	missense	probably benign	0.01
R5691:Parp14	UTSW	16	35,683,909 (GRCm39)	missense	probably benign	0.12
R5774:Parp14	UTSW	16	35,678,780 (GRCm39)	missense	probably damaging	1.00
R5855:Parp14	UTSW	16	35,661,297 (GRCm39)	nonsense	probably null
R5942:Parp14	UTSW	16	35,659,737 (GRCm39)	missense	probably damaging	0.98
R5990:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R5991:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6018:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6022:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6075:Parp14	UTSW	16	35,677,389 (GRCm39)	missense	probably damaging	0.99
R6395:Parp14	UTSW	16	35,676,918 (GRCm39)	missense	probably benign	0.00
R6525:Parp14	UTSW	16	35,680,811 (GRCm39)	missense	probably benign	0.05
R6683:Parp14	UTSW	16	35,655,047 (GRCm39)	missense	probably damaging	1.00
R8011:Parp14	UTSW	16	35,677,004 (GRCm39)	missense	probably benign	0.00
R8192:Parp14	UTSW	16	35,691,584 (GRCm39)	missense	probably benign	0.01
R8367:Parp14	UTSW	16	35,678,124 (GRCm39)	missense	probably benign	0.36
R8526:Parp14	UTSW	16	35,661,307 (GRCm39)	missense	possibly damaging	0.87
R8751:Parp14	UTSW	16	35,677,181 (GRCm39)	missense	probably benign	0.32
R8962:Parp14	UTSW	16	35,677,187 (GRCm39)	missense	probably damaging	1.00
R9231:Parp14	UTSW	16	35,661,583 (GRCm39)	missense	probably damaging	0.98
R9363:Parp14	UTSW	16	35,678,586 (GRCm39)	missense	possibly damaging	0.90
R9366:Parp14	UTSW	16	35,659,630 (GRCm39)	critical splice donor site	probably null
R9379:Parp14	UTSW	16	35,680,853 (GRCm39)	missense	probably benign	0.08
R9562:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9565:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9696:Parp14	UTSW	16	35,661,252 (GRCm39)	missense	probably damaging	0.96
R9696:Parp14	UTSW	16	35,661,251 (GRCm39)	missense	possibly damaging	0.67
X0026:Parp14	UTSW	16	35,677,527 (GRCm39)	nonsense	probably null
X0060:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
Z1088:Parp14	UTSW	16	35,661,956 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,665,708 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,691,573 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GAACTGACGACCAATCTCCG -3'
(R):5'- ATGAATTGACTTCAGAAACCCCG -3'

Sequencing Primer
(F):5'- GAACTGACGACCAATCTCCGTTTTG -3'
(R):5'- CCGGCAAAGGTCATTGTTAC -3'

Posted On

2019-10-17