Mutagenetix > Incidental Mutations

Incidental Mutation 'R4632:Pik3r4'

349288

Institutional Source

Beutler Lab

Gene Symbol

Pik3r4

Ensembl Gene

ENSMUSG00000032571

Gene Name

phosphoinositide-3-kinase regulatory subunit 4

Synonyms

D9Ertd418e, 2210010O15Rik, C730038E05Rik

MMRRC Submission

041897-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105642978-105687657 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105654899 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 557 (M557V)

Ref Sequence

ENSEMBL: ENSMUSP00000139427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000186943] [ENSMUST00000191268]

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: M557V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: M557V

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	26	310	1.7e-5	PFAM
Pfam:Pkinase	26	312	1.2e-18	PFAM
coiled coil region	941	963	N/A	INTRINSIC
WD40	982	1021	3.99e-8	SMART
WD40	1031	1070	6.16e0	SMART
WD40	1132	1169	4.58e1	SMART
WD40	1171	1214	1.64e2	SMART
WD40	1228	1269	2.76e-2	SMART
WD40	1317	1358	2.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191117

Predicted Effect

probably benign
Transcript: ENSMUST00000191268
AA Change: M557V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: M557V

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	26	310	8.9e-7	PFAM
Pfam:Pkinase	26	312	3.7e-23	PFAM
coiled coil region	941	963	N/A	INTRINSIC
WD40	982	1021	3.99e-8	SMART
WD40	1031	1070	6.16e0	SMART
WD40	1132	1169	4.58e1	SMART
WD40	1171	1214	1.64e2	SMART
WD40	1228	1269	2.76e-2	SMART
WD40	1317	1358	2.96e-2	SMART

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit earl embryonic lethality before E7.5. Mice homozygous for a conditional allele activated in muscles exhibit symptoms of autophagic vacuolar myopathies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473	V44A	probably benign	Het
Abr	C	T	11: 76,509,019	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382		probably null	Het
Agbl1	A	G	7: 76,413,685	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275	T309M	probably damaging	Het
C6	A	T	15: 4,759,868	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366		probably null	Het
Hykk	T	C	9: 54,946,516	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Krt13	A	G	11: 100,121,224	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129		probably null	Het
Lrriq1	C	T	10: 103,221,427	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128	F413L	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044		probably null	Het
Ppm1e	G	A	11: 87,231,530	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Samd12	T	A	15: 53,719,671	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760	V211E	probably benign	Het
Setx	C	T	2: 29,148,615	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368	C186*	probably null	Het
Timp2	C	T	11: 118,303,772	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981	F501S	probably damaging	Het

Other mutations in Pik3r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Pik3r4	APN	9	105644604	missense	possibly damaging	0.75
IGL01617:Pik3r4	APN	9	105654965	missense	probably benign	0.33
IGL01764:Pik3r4	APN	9	105685122	splice site	probably benign
IGL01817:Pik3r4	APN	9	105650822	missense	probably damaging	1.00
IGL01830:Pik3r4	APN	9	105644955	missense	probably damaging	1.00
IGL01905:Pik3r4	APN	9	105644878	nonsense	probably null
IGL01947:Pik3r4	APN	9	105686150	missense	possibly damaging	0.91
IGL01985:Pik3r4	APN	9	105663045	missense	probably benign	0.03
IGL02321:Pik3r4	APN	9	105644478	missense	probably benign	0.04
IGL02389:Pik3r4	APN	9	105650331	missense	possibly damaging	0.88
IGL02898:Pik3r4	APN	9	105650406	missense	probably benign	0.21
IGL03037:Pik3r4	APN	9	105650813	missense	probably damaging	1.00
boteh	UTSW	9	105667938	splice site	probably null
IGL02835:Pik3r4	UTSW	9	105672706	missense	probably benign	0.07
R0011:Pik3r4	UTSW	9	105644637	missense	probably benign	0.01
R0312:Pik3r4	UTSW	9	105686210	missense	probably damaging	1.00
R0321:Pik3r4	UTSW	9	105648707	missense	probably damaging	1.00
R0482:Pik3r4	UTSW	9	105669045	missense	probably benign	0.04
R0645:Pik3r4	UTSW	9	105669187	splice site	probably benign
R0690:Pik3r4	UTSW	9	105653976	missense	possibly damaging	0.81
R0789:Pik3r4	UTSW	9	105685167	missense	probably benign	0.14
R0894:Pik3r4	UTSW	9	105667771	missense	possibly damaging	0.73
R0988:Pik3r4	UTSW	9	105687205	missense	probably damaging	0.97
R1123:Pik3r4	UTSW	9	105663129	missense	probably benign
R1172:Pik3r4	UTSW	9	105663174	missense	probably damaging	1.00
R1174:Pik3r4	UTSW	9	105663174	missense	probably damaging	1.00
R1342:Pik3r4	UTSW	9	105650901	critical splice donor site	probably null
R1387:Pik3r4	UTSW	9	105644291	missense	probably damaging	1.00
R1480:Pik3r4	UTSW	9	105687244	missense	probably benign	0.39
R1638:Pik3r4	UTSW	9	105687209	missense	probably damaging	1.00
R1643:Pik3r4	UTSW	9	105687152	missense	possibly damaging	0.83
R1995:Pik3r4	UTSW	9	105669165	missense	probably benign	0.12
R2037:Pik3r4	UTSW	9	105650335	missense	probably benign	0.00
R2165:Pik3r4	UTSW	9	105672785	missense	probably benign	0.05
R4210:Pik3r4	UTSW	9	105650758	missense	possibly damaging	0.57
R4515:Pik3r4	UTSW	9	105672725	missense	probably damaging	1.00
R4519:Pik3r4	UTSW	9	105672725	missense	probably damaging	1.00
R4630:Pik3r4	UTSW	9	105654899	missense	probably benign	0.06
R4732:Pik3r4	UTSW	9	105678176	missense	possibly damaging	0.56
R4733:Pik3r4	UTSW	9	105678176	missense	possibly damaging	0.56
R4940:Pik3r4	UTSW	9	105668994	missense	probably benign	0.20
R5120:Pik3r4	UTSW	9	105669009	missense	probably benign	0.30
R5169:Pik3r4	UTSW	9	105678161	missense	probably benign	0.14
R5183:Pik3r4	UTSW	9	105682308	missense	possibly damaging	0.87
R5353:Pik3r4	UTSW	9	105667938	splice site	probably null
R5463:Pik3r4	UTSW	9	105648731	missense	probably damaging	1.00
R5635:Pik3r4	UTSW	9	105667825	missense	probably benign	0.01
R5763:Pik3r4	UTSW	9	105669775	missense	probably benign	0.01
R5830:Pik3r4	UTSW	9	105644824	nonsense	probably null
R6251:Pik3r4	UTSW	9	105654048	missense	probably benign
R6468:Pik3r4	UTSW	9	105685190	missense	possibly damaging	0.86
R6611:Pik3r4	UTSW	9	105644277	missense	probably damaging	0.99
R6642:Pik3r4	UTSW	9	105644646	missense	probably benign	0.11
R6821:Pik3r4	UTSW	9	105650606	missense	probably damaging	0.98
R7039:Pik3r4	UTSW	9	105676890	missense	possibly damaging	0.76
R7144:Pik3r4	UTSW	9	105650584	missense	probably damaging	0.98
R7410:Pik3r4	UTSW	9	105650591	missense	probably damaging	0.99
R7559:Pik3r4	UTSW	9	105678153	missense	probably benign	0.17
R7561:Pik3r4	UTSW	9	105687247	missense	possibly damaging	0.94
R7658:Pik3r4	UTSW	9	105644511	missense	probably damaging	0.98
R7727:Pik3r4	UTSW	9	105669882	missense	probably damaging	0.99
R7871:Pik3r4	UTSW	9	105663117	missense	probably damaging	1.00
R7954:Pik3r4	UTSW	9	105663117	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCCAAATGCCCCATCCG -3'
(R):5'- CCAAACCAACGGAAGGCTTTG -3'

Sequencing Primer
(F):5'- GCGTGTGTGGATGAAATCTCCATC -3'
(R):5'- GGCTTTGAGAGGGCAATTTATAATC -3'

Posted On

2015-10-08