Mutagenetix > Incidental Mutation

Incidental Mutation 'R6254:Pik3r1'

506017

Institutional Source

Beutler Lab

Gene Symbol

Pik3r1

Ensembl Gene

ENSMUSG00000041417

Gene Name

phosphoinositide-3-kinase regulatory subunit 1

Synonyms

p85alpha, p55alpha, PI3K, p50alpha

MMRRC Submission

044371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101817269-101904725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101825914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 71 (T71A)

Ref Sequence

ENSEMBL: ENSMUSP00000140312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035532] [ENSMUST00000055518] [ENSMUST00000185795] [ENSMUST00000187009]

AlphaFold

P26450

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035532
AA Change: T101A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047004
Gene: ENSMUSG00000041417
AA Change: T101A

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
SH2	61	144	9.96e-28	SMART
low complexity region	263	278	N/A	INTRINSIC
SH2	352	434	7.33e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055518
AA Change: T371A

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: T371A

Domain	Start	End	E-Value	Type
SH3	6	78	2.81e-11	SMART
low complexity region	79	99	N/A	INTRINSIC
RhoGAP	126	298	1.94e-37	SMART
low complexity region	303	314	N/A	INTRINSIC
SH2	331	414	9.96e-28	SMART
Pfam:PI3K_P85_iSH2	431	599	7.8e-67	PFAM
SH2	622	704	7.33e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185795
AA Change: T71A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140312
Gene: ENSMUSG00000041417
AA Change: T71A

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
SH2	31	112	1.52e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187009
AA Change: T50A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140256
Gene: ENSMUSG00000041417
AA Change: T50A

Domain	Start	End	E-Value	Type
SH2	10	93	6.5e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190171

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Exph5	T	G	9: 53,284,010 (GRCm39)	S364A	possibly damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,732,168 (GRCm39)	T57I	probably benign	Het
Samd4	A	G	14: 47,254,088 (GRCm39)	D184G	probably damaging	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,840,643 (GRCm39)	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	probably damaging	Het

Other mutations in Pik3r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Pik3r1	APN	13	101,827,044 (GRCm39)	start codon destroyed	probably benign
IGL00484:Pik3r1	APN	13	101,838,255 (GRCm39)	missense	probably benign	0.08
IGL00911:Pik3r1	APN	13	101,894,169 (GRCm39)	utr 5 prime	probably benign
IGL01620:Pik3r1	APN	13	101,822,728 (GRCm39)	missense	probably damaging	1.00
IGL01872:Pik3r1	APN	13	101,825,625 (GRCm39)	missense	probably benign	0.01
IGL02544:Pik3r1	APN	13	101,823,784 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pik3r1	APN	13	101,894,037 (GRCm39)	missense	probably benign	0.02
anubis	UTSW	13	101,839,284 (GRCm39)	nonsense	probably null
Astro_boy	UTSW	13	101,838,240 (GRCm39)	missense	probably damaging	1.00
Pennywhistle	UTSW	13	101,825,914 (GRCm39)	missense	probably damaging	0.96
Rocket	UTSW	13	101,825,952 (GRCm39)	missense	probably damaging	1.00
Starburst	UTSW	13	101,894,166 (GRCm39)	start codon destroyed	probably null	0.99
R0635:Pik3r1	UTSW	13	101,893,926 (GRCm39)	missense	probably benign
R0751:Pik3r1	UTSW	13	101,822,866 (GRCm39)	splice site	probably null
R0787:Pik3r1	UTSW	13	101,827,031 (GRCm39)	missense	probably benign	0.30
R0845:Pik3r1	UTSW	13	101,822,772 (GRCm39)	missense	probably benign	0.45
R0891:Pik3r1	UTSW	13	101,837,974 (GRCm39)	missense	probably benign
R1066:Pik3r1	UTSW	13	101,825,171 (GRCm39)	missense	probably damaging	1.00
R1184:Pik3r1	UTSW	13	101,822,866 (GRCm39)	splice site	probably null
R1735:Pik3r1	UTSW	13	101,822,882 (GRCm39)	missense	probably damaging	1.00
R2474:Pik3r1	UTSW	13	101,839,284 (GRCm39)	nonsense	probably null
R3015:Pik3r1	UTSW	13	101,823,771 (GRCm39)	missense	probably damaging	1.00
R3419:Pik3r1	UTSW	13	101,828,723 (GRCm39)	missense	probably benign	0.17
R3876:Pik3r1	UTSW	13	101,821,465 (GRCm39)	missense	probably benign	0.01
R3964:Pik3r1	UTSW	13	101,825,193 (GRCm39)	missense	possibly damaging	0.75
R4175:Pik3r1	UTSW	13	101,838,241 (GRCm39)	missense	probably benign	0.25
R4175:Pik3r1	UTSW	13	101,838,240 (GRCm39)	missense	probably damaging	1.00
R4422:Pik3r1	UTSW	13	101,830,892 (GRCm39)	missense	probably benign
R4890:Pik3r1	UTSW	13	101,894,118 (GRCm39)	missense	probably damaging	1.00
R5038:Pik3r1	UTSW	13	101,825,952 (GRCm39)	missense	probably damaging	1.00
R5117:Pik3r1	UTSW	13	101,828,744 (GRCm39)	missense	probably benign
R6066:Pik3r1	UTSW	13	101,822,828 (GRCm39)	missense	possibly damaging	0.72
R7421:Pik3r1	UTSW	13	101,825,644 (GRCm39)	missense	probably damaging	1.00
R7507:Pik3r1	UTSW	13	101,845,490 (GRCm39)	missense	probably benign	0.00
R7538:Pik3r1	UTSW	13	101,825,914 (GRCm39)	missense	probably damaging	0.96
R7605:Pik3r1	UTSW	13	101,839,346 (GRCm39)	missense	probably benign
R7739:Pik3r1	UTSW	13	101,846,205 (GRCm39)	missense	probably benign	0.01
R8695:Pik3r1	UTSW	13	101,894,062 (GRCm39)	missense	probably benign	0.40
R9146:Pik3r1	UTSW	13	101,825,136 (GRCm39)	splice site	probably benign
R9315:Pik3r1	UTSW	13	101,894,166 (GRCm39)	start codon destroyed	probably null	0.99
R9678:Pik3r1	UTSW	13	101,839,289 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGATGCAGAAGGAGGGC -3'
(R):5'- CAATCCCCAGTGCAGAAGAAGG -3'

Sequencing Primer
(F):5'- AGGGCTCTCAGGATGGG -3'
(R):5'- AGAAGGGAAGCTCTGTGTGTG -3'

Posted On

2018-02-28