Mutagenetix > Incidental Mutation

Incidental Mutation 'R6642:Pik3r4'

525855

Institutional Source

Beutler Lab

Gene Symbol

Pik3r4

Ensembl Gene

ENSMUSG00000032571

Gene Name

phosphoinositide-3-kinase regulatory subunit 4

Synonyms

p150, Vps15

MMRRC Submission

044763-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105520177-105564856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105521845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000140988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065778] [ENSMUST00000188784] [ENSMUST00000190358] [ENSMUST00000191268]

AlphaFold

Q8VD65

Predicted Effect

probably benign
Transcript: ENSMUST00000065778
AA Change: D137G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067400
Gene: ENSMUSG00000032571
AA Change: D137G

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

noncoding transcript
Transcript: ENSMUST00000187446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187573

Predicted Effect

probably benign
Transcript: ENSMUST00000188784
AA Change: D137G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140988
Gene: ENSMUSG00000032571
AA Change: D137G

Domain	Start	End	E-Value	Type
S_TKc	26	301	2.8e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190358
AA Change: D137G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139643
Gene: ENSMUSG00000032571
AA Change: D137G

Domain	Start	End	E-Value	Type
S_TKc	26	174	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191117

Predicted Effect

probably benign
Transcript: ENSMUST00000191268
AA Change: D137G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139427
Gene: ENSMUSG00000032571
AA Change: D137G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,790 (GRCm39)	V215D	probably damaging	Het
Ablim1	A	G	19: 57,119,284 (GRCm39)	S267P	probably benign	Het
Adcy2	C	T	13: 68,768,945 (GRCm39)	C1061Y	probably damaging	Het
Aip	C	A	19: 4,165,149 (GRCm39)	C240F	probably damaging	Het
Aldh1a2	A	T	9: 71,160,268 (GRCm39)	D98V	probably damaging	Het
Arhgef40	T	C	14: 52,228,419 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,526,736 (GRCm39)	R48L	probably damaging	Het
Ctrl	C	T	8: 106,659,451 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,006 (GRCm39)	T2720A	probably benign	Het
Fzd1	A	G	5: 4,805,696 (GRCm39)	Y629H	probably damaging	Het
Gins1	T	C	2: 150,770,038 (GRCm39)		probably null	Het
Gpr149	C	T	3: 62,437,995 (GRCm39)	A721T	probably damaging	Het
Helb	A	T	10: 119,920,835 (GRCm39)	M1036K	probably benign	Het
Il16	A	G	7: 83,337,335 (GRCm39)	F127L	probably benign	Het
Kctd20	A	T	17: 29,180,640 (GRCm39)	H138L	probably damaging	Het
Kctd9	T	A	14: 67,962,122 (GRCm39)	L55*	probably null	Het
Marf1	C	T	16: 13,950,611 (GRCm39)	R925H	probably benign	Het
Mbip	A	T	12: 56,389,191 (GRCm39)		probably benign	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nod1	T	G	6: 54,925,014 (GRCm39)	D99A	probably damaging	Het
Olfm4	A	G	14: 80,259,107 (GRCm39)	K419E	probably damaging	Het
Or6c214	A	T	10: 129,591,232 (GRCm39)	L29Q	probably damaging	Het
Prdm4	T	C	10: 85,743,682 (GRCm39)	E191G	probably benign	Het
Rassf10	A	T	7: 112,554,784 (GRCm39)	T462S	probably benign	Het
Rundc3b	A	T	5: 8,629,071 (GRCm39)	I110N	probably damaging	Het
Sgsm3	C	T	15: 80,893,901 (GRCm39)	R479C	probably damaging	Het
Tmc7	A	T	7: 118,144,834 (GRCm39)	Y575*	probably null	Het
Trim33	T	C	3: 103,244,830 (GRCm39)	L310S	probably damaging	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Ttn	T	C	2: 76,565,740 (GRCm39)	E28204G	probably damaging	Het
Vmn1r233	A	T	17: 21,214,002 (GRCm39)	L316Q	probably damaging	Het
Vmn2r110	A	T	17: 20,803,779 (GRCm39)	N265K	possibly damaging	Het
Xylb	A	G	9: 119,196,559 (GRCm39)	H114R	probably damaging	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het

Other mutations in Pik3r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Pik3r4	APN	9	105,521,803 (GRCm39)	missense	possibly damaging	0.75
IGL01617:Pik3r4	APN	9	105,532,164 (GRCm39)	missense	probably benign	0.33
IGL01764:Pik3r4	APN	9	105,562,321 (GRCm39)	splice site	probably benign
IGL01817:Pik3r4	APN	9	105,528,021 (GRCm39)	missense	probably damaging	1.00
IGL01830:Pik3r4	APN	9	105,522,154 (GRCm39)	missense	probably damaging	1.00
IGL01905:Pik3r4	APN	9	105,522,077 (GRCm39)	nonsense	probably null
IGL01947:Pik3r4	APN	9	105,563,349 (GRCm39)	missense	possibly damaging	0.91
IGL01985:Pik3r4	APN	9	105,540,244 (GRCm39)	missense	probably benign	0.03
IGL02321:Pik3r4	APN	9	105,521,677 (GRCm39)	missense	probably benign	0.04
IGL02389:Pik3r4	APN	9	105,527,530 (GRCm39)	missense	possibly damaging	0.88
IGL02898:Pik3r4	APN	9	105,527,605 (GRCm39)	missense	probably benign	0.21
IGL03037:Pik3r4	APN	9	105,528,012 (GRCm39)	missense	probably damaging	1.00
boteh	UTSW	9	105,545,137 (GRCm39)	splice site	probably null
truth	UTSW	9	105,527,805 (GRCm39)	missense	probably damaging	0.98
verisimilitude	UTSW	9	105,555,352 (GRCm39)	missense	probably benign	0.17
IGL02835:Pik3r4	UTSW	9	105,549,905 (GRCm39)	missense	probably benign	0.07
R0011:Pik3r4	UTSW	9	105,521,836 (GRCm39)	missense	probably benign	0.01
R0312:Pik3r4	UTSW	9	105,563,409 (GRCm39)	missense	probably damaging	1.00
R0321:Pik3r4	UTSW	9	105,525,906 (GRCm39)	missense	probably damaging	1.00
R0482:Pik3r4	UTSW	9	105,546,244 (GRCm39)	missense	probably benign	0.04
R0645:Pik3r4	UTSW	9	105,546,386 (GRCm39)	splice site	probably benign
R0690:Pik3r4	UTSW	9	105,531,175 (GRCm39)	missense	possibly damaging	0.81
R0789:Pik3r4	UTSW	9	105,562,366 (GRCm39)	missense	probably benign	0.14
R0894:Pik3r4	UTSW	9	105,544,970 (GRCm39)	missense	possibly damaging	0.73
R0988:Pik3r4	UTSW	9	105,564,404 (GRCm39)	missense	probably damaging	0.97
R1123:Pik3r4	UTSW	9	105,540,328 (GRCm39)	missense	probably benign
R1172:Pik3r4	UTSW	9	105,540,373 (GRCm39)	missense	probably damaging	1.00
R1174:Pik3r4	UTSW	9	105,540,373 (GRCm39)	missense	probably damaging	1.00
R1342:Pik3r4	UTSW	9	105,528,100 (GRCm39)	critical splice donor site	probably null
R1387:Pik3r4	UTSW	9	105,521,490 (GRCm39)	missense	probably damaging	1.00
R1480:Pik3r4	UTSW	9	105,564,443 (GRCm39)	missense	probably benign	0.39
R1638:Pik3r4	UTSW	9	105,564,408 (GRCm39)	missense	probably damaging	1.00
R1643:Pik3r4	UTSW	9	105,564,351 (GRCm39)	missense	possibly damaging	0.83
R1995:Pik3r4	UTSW	9	105,546,364 (GRCm39)	missense	probably benign	0.12
R2037:Pik3r4	UTSW	9	105,527,534 (GRCm39)	missense	probably benign	0.00
R2165:Pik3r4	UTSW	9	105,549,984 (GRCm39)	missense	probably benign	0.05
R4210:Pik3r4	UTSW	9	105,527,957 (GRCm39)	missense	possibly damaging	0.57
R4515:Pik3r4	UTSW	9	105,549,924 (GRCm39)	missense	probably damaging	1.00
R4519:Pik3r4	UTSW	9	105,549,924 (GRCm39)	missense	probably damaging	1.00
R4630:Pik3r4	UTSW	9	105,532,098 (GRCm39)	missense	probably benign	0.06
R4632:Pik3r4	UTSW	9	105,532,098 (GRCm39)	missense	probably benign	0.06
R4732:Pik3r4	UTSW	9	105,555,375 (GRCm39)	missense	possibly damaging	0.56
R4733:Pik3r4	UTSW	9	105,555,375 (GRCm39)	missense	possibly damaging	0.56
R4940:Pik3r4	UTSW	9	105,546,193 (GRCm39)	missense	probably benign	0.20
R5120:Pik3r4	UTSW	9	105,546,208 (GRCm39)	missense	probably benign	0.30
R5169:Pik3r4	UTSW	9	105,555,360 (GRCm39)	missense	probably benign	0.14
R5183:Pik3r4	UTSW	9	105,559,507 (GRCm39)	missense	possibly damaging	0.87
R5353:Pik3r4	UTSW	9	105,545,137 (GRCm39)	splice site	probably null
R5463:Pik3r4	UTSW	9	105,525,930 (GRCm39)	missense	probably damaging	1.00
R5635:Pik3r4	UTSW	9	105,545,024 (GRCm39)	missense	probably benign	0.01
R5763:Pik3r4	UTSW	9	105,546,974 (GRCm39)	missense	probably benign	0.01
R5830:Pik3r4	UTSW	9	105,522,023 (GRCm39)	nonsense	probably null
R6251:Pik3r4	UTSW	9	105,531,247 (GRCm39)	missense	probably benign
R6468:Pik3r4	UTSW	9	105,562,389 (GRCm39)	missense	possibly damaging	0.86
R6611:Pik3r4	UTSW	9	105,521,476 (GRCm39)	missense	probably damaging	0.99
R6821:Pik3r4	UTSW	9	105,527,805 (GRCm39)	missense	probably damaging	0.98
R7039:Pik3r4	UTSW	9	105,554,089 (GRCm39)	missense	possibly damaging	0.76
R7144:Pik3r4	UTSW	9	105,527,783 (GRCm39)	missense	probably damaging	0.98
R7410:Pik3r4	UTSW	9	105,527,790 (GRCm39)	missense	probably damaging	0.99
R7559:Pik3r4	UTSW	9	105,555,352 (GRCm39)	missense	probably benign	0.17
R7561:Pik3r4	UTSW	9	105,564,446 (GRCm39)	missense	possibly damaging	0.94
R7658:Pik3r4	UTSW	9	105,521,710 (GRCm39)	missense	probably damaging	0.98
R7727:Pik3r4	UTSW	9	105,547,081 (GRCm39)	missense	probably damaging	0.99
R7871:Pik3r4	UTSW	9	105,540,316 (GRCm39)	missense	probably damaging	1.00
R7957:Pik3r4	UTSW	9	105,564,408 (GRCm39)	missense	probably damaging	1.00
R8138:Pik3r4	UTSW	9	105,546,234 (GRCm39)	missense	possibly damaging	0.55
R8686:Pik3r4	UTSW	9	105,535,728 (GRCm39)	missense	possibly damaging	0.50
R8719:Pik3r4	UTSW	9	105,559,394 (GRCm39)	missense	probably benign	0.00
R9091:Pik3r4	UTSW	9	105,547,108 (GRCm39)	missense	probably benign	0.35
R9189:Pik3r4	UTSW	9	105,547,038 (GRCm39)	missense	probably benign	0.22
R9270:Pik3r4	UTSW	9	105,547,108 (GRCm39)	missense	probably benign	0.35
R9439:Pik3r4	UTSW	9	105,528,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAATCAGGCTCCACTCCG -3'
(R):5'- TAACTCGGTGGCGAACATC -3'

Sequencing Primer
(F):5'- TCCGCCCAGAACTGCCTC -3'
(R):5'- TGGCGAACATCCCACCGTC -3'

Posted On

2018-06-22