Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Ppp1r13l'

393019

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r13l

Ensembl Gene

ENSMUSG00000040734

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 13 like

Synonyms

NFkB interacting protein 1, wa3, IASPP

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R5121 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

19359749-19378533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 19370095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 167 (R167P)

Ref Sequence

ENSEMBL: ENSMUSP00000047839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047621] [ENSMUST00000127785] [ENSMUST00000132655] [ENSMUST00000140836]

AlphaFold

Q5I1X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047621
AA Change: R167P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: R167P

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC
low complexity region	349	370	N/A	INTRINSIC
low complexity region	401	440	N/A	INTRINSIC
low complexity region	453	472	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC
low complexity region	575	600	N/A	INTRINSIC
low complexity region	616	632	N/A	INTRINSIC
ANK	655	684	2.25e-3	SMART
ANK	688	717	1.31e-4	SMART
SH3	757	815	4.66e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127785

SMART Domains

Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132655

SMART Domains

Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140836

SMART Domains

Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123		probably null	Het
Cd163	T	C	6: 124,317,989	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684		probably null	Het
Cfi	C	T	3: 129,873,077	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595	I141M	probably benign	Het
Cwc27	A	T	13: 104,804,353	V166D	probably damaging	Het
Defb26	T	C	2: 152,508,165	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111		probably null	Het
Fbln1	A	G	15: 85,237,671	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100		probably null	Het
Gm572	T	C	4: 148,666,845		probably null	Het
Golgb1	T	C	16: 36,919,258	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Myb	T	A	10: 21,126,238	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480		probably benign	Het
Nip7	A	G	8: 107,056,957	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231	I38V	probably benign	Het
Optn	T	A	2: 5,046,106	I155F	probably benign	Het
Papolb	A	T	5: 142,528,837	H350Q	probably benign	Het
Pappa2	T	A	1: 158,838,627	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422	S44*	probably null	Het
Peg3	T	C	7: 6,710,289	K645E	probably benign	Het
Pkd1	C	T	17: 24,573,463	R1375C	probably benign	Het
Plekha5	G	A	6: 140,579,474	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805	Q353L	probably benign	Het
Ppp1r9b	T	A	11: 94,996,653	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753		probably null	Het
Rhpn1	T	C	15: 75,709,260	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836	F14L	probably null	Het
Trim26	G	T	17: 36,851,066	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834		probably null	Het
Ttn	T	A	2: 76,916,491		probably null	Het
Ubap1	C	T	4: 41,379,688	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437	M12T	probably benign	Het
Vill	C	T	9: 119,070,025	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,355,753	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553	S21P	probably benign	Het
Wapl	A	G	14: 34,677,162	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,126	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507		probably null	Het
Zglp1	A	T	9: 21,062,661	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187	E215G	probably benign	Het

Other mutations in Ppp1r13l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Ppp1r13l	APN	7	19375268	missense	probably damaging	1.00
IGL01800:Ppp1r13l	APN	7	19378011	unclassified	probably benign
IGL02714:Ppp1r13l	APN	7	19377643	missense	possibly damaging	0.93
IGL03251:Ppp1r13l	APN	7	19368869	splice site	probably benign
R0507:Ppp1r13l	UTSW	7	19375814	missense	possibly damaging	0.63
R1147:Ppp1r13l	UTSW	7	19375847	missense	probably damaging	1.00
R1147:Ppp1r13l	UTSW	7	19375847	missense	probably damaging	1.00
R1845:Ppp1r13l	UTSW	7	19368611	missense	probably damaging	0.97
R1885:Ppp1r13l	UTSW	7	19377571	missense	probably damaging	1.00
R1886:Ppp1r13l	UTSW	7	19377571	missense	probably damaging	1.00
R2118:Ppp1r13l	UTSW	7	19371421	missense	possibly damaging	0.89
R4063:Ppp1r13l	UTSW	7	19370053	missense	probably benign
R4685:Ppp1r13l	UTSW	7	19375383	critical splice donor site	probably null
R5604:Ppp1r13l	UTSW	7	19375599	missense	possibly damaging	0.89
R5669:Ppp1r13l	UTSW	7	19373022	missense	probably benign	0.00
R5911:Ppp1r13l	UTSW	7	19375892	critical splice donor site	probably null
R6002:Ppp1r13l	UTSW	7	19377970	missense	probably benign	0.22
R6058:Ppp1r13l	UTSW	7	19370575	missense	probably benign	0.01
R6170:Ppp1r13l	UTSW	7	19370437	missense	probably benign	0.13
R6171:Ppp1r13l	UTSW	7	19377511	missense	probably benign	0.06
R6246:Ppp1r13l	UTSW	7	19369858	missense	probably benign	0.00
R6418:Ppp1r13l	UTSW	7	19371331	missense	probably damaging	1.00
R6845:Ppp1r13l	UTSW	7	19371398	missense	probably damaging	0.99
R7367:Ppp1r13l	UTSW	7	19370156	missense	probably benign	0.36
R7381:Ppp1r13l	UTSW	7	19368861	critical splice donor site	probably null
R7467:Ppp1r13l	UTSW	7	19371380	missense	probably damaging	0.99
R7510:Ppp1r13l	UTSW	7	19368801	missense	possibly damaging	0.52
R8185:Ppp1r13l	UTSW	7	19372938	missense	probably benign	0.00
R8678:Ppp1r13l	UTSW	7	19375772	missense	probably benign	0.24
R8757:Ppp1r13l	UTSW	7	19370056	missense	probably damaging	1.00
R8759:Ppp1r13l	UTSW	7	19370056	missense	probably damaging	1.00
R8853:Ppp1r13l	UTSW	7	19369968	missense	probably benign	0.00
R8881:Ppp1r13l	UTSW	7	19371269	missense	probably damaging	1.00
R8994:Ppp1r13l	UTSW	7	19368770	missense	possibly damaging	0.90
R9741:Ppp1r13l	UTSW	7	19369800	missense	probably damaging	1.00
RF015:Ppp1r13l	UTSW	7	19368542	critical splice acceptor site	probably benign
RF022:Ppp1r13l	UTSW	7	19368542	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGAGGCCCGTTTTGGAC -3'
(R):5'- TCTGGTGAAAGGGGTCCATG -3'

Sequencing Primer
(F):5'- CGTTTTGGACGCTCGGAG -3'
(R):5'- AGCCTCCCAAAGAGAGGGTC -3'

Posted On

2016-06-15