Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Pik3cd'

194847

Institutional Source

Beutler Lab

Gene Symbol

Pik3cd

Ensembl Gene

ENSMUSG00000039936

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

Synonyms

2610208K16Rik, 2410099E07Rik, p110delta

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149733625-149787023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149743207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 298 (K298E)

Ref Sequence

ENSEMBL: ENSMUSP00000113844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038859] [ENSMUST00000105688] [ENSMUST00000105689] [ENSMUST00000105690] [ENSMUST00000118704] [ENSMUST00000122059] [ENSMUST00000127273] [ENSMUST00000177654] [ENSMUST00000131224] [ENSMUST00000156309] [ENSMUST00000134534] [ENSMUST00000146612]

AlphaFold

O35904

Predicted Effect

probably benign
Transcript: ENSMUST00000038859
AA Change: K298E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	685	8.56e-87	SMART
PI3Kc	776	1042	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105688
AA Change: K298E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	685	8.56e-87	SMART
PI3Kc	775	1041	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105689
AA Change: K298E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	684	1.35e-84	SMART
PI3Kc	774	1040	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105690
AA Change: K298E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	688	1.22e-82	SMART
PI3Kc	778	1044	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118704
AA Change: K298E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	687	1.8e-80	SMART
PI3Kc	777	1043	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122059
AA Change: K298E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	408	6.47e-23	SMART
PI3Ka	492	681	8.56e-87	SMART
PI3Kc	771	1037	5.65e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127273

SMART Domains

Protein: ENSMUSP00000119858
Gene: ENSMUSG00000039936

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
Blast:PI3K_rbd	126	171	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177654
AA Change: K298E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: K298E

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART
PI3K_rbd	174	281	1.3e-13	SMART
PI3K_C2	309	412	1.87e-28	SMART
PI3Ka	496	688	1.22e-82	SMART
PI3Kc	778	1044	5.65e-128	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185093

Predicted Effect

probably benign
Transcript: ENSMUST00000131224

SMART Domains

Protein: ENSMUSP00000115542
Gene: ENSMUSG00000039936

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156309

Predicted Effect

probably benign
Transcript: ENSMUST00000134534

SMART Domains

Protein: ENSMUSP00000118988
Gene: ENSMUSG00000039936

Domain	Start	End	E-Value	Type
Pfam:PI3K_p85B	31	62	1.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146612

SMART Domains

Protein: ENSMUSP00000121843
Gene: ENSMUSG00000039936

Domain	Start	End	E-Value	Type
PI3K_p85B	31	108	2.24e-26	SMART

Meta Mutation Damage Score

0.2524

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 100,148,514 (GRCm39)		noncoding transcript	Het
Acin1	A	G	14: 54,902,661 (GRCm39)	V377A	probably benign	Het
Adam39	A	T	8: 41,278,361 (GRCm39)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,170,912 (GRCm39)	*1166K	probably null	Het
Akap12	T	A	10: 4,307,574 (GRCm39)	D1461E	probably benign	Het
Aopep	T	A	13: 63,215,875 (GRCm39)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,871,056 (GRCm39)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,277,671 (GRCm39)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,640,122 (GRCm39)	M163I	probably damaging	Het
Cap2	T	G	13: 46,684,489 (GRCm39)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,468,332 (GRCm39)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,318,070 (GRCm39)	V234A	probably benign	Het
Cd207	C	T	6: 83,652,579 (GRCm39)	V184I	probably benign	Het
Cdk12	C	A	11: 98,132,587 (GRCm39)	C1005*	probably null	Het
Cep83	T	C	10: 94,586,129 (GRCm39)	S344P	probably damaging	Het
Ces1g	A	T	8: 94,033,582 (GRCm39)	Y447N	probably benign	Het
Cfap54	A	T	10: 92,883,923 (GRCm39)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,028,615 (GRCm39)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,142,525 (GRCm39)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,244,068 (GRCm39)	D59G	probably damaging	Het
Colq	G	A	14: 31,269,409 (GRCm39)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,862,275 (GRCm39)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,501,725 (GRCm39)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,178,912 (GRCm39)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,976,766 (GRCm39)	V306A	probably benign	Het
Diaph1	A	T	18: 37,987,626 (GRCm39)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,323,539 (GRCm39)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,641,206 (GRCm39)	S344A	probably benign	Het
Dner	C	T	1: 84,423,311 (GRCm39)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,170,115 (GRCm39)	L139*	probably null	Het
Fam193a	T	A	5: 34,623,636 (GRCm39)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,396,385 (GRCm39)	Y102*	probably null	Het
Gm10509	A	G	17: 21,909,762 (GRCm39)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,197,921 (GRCm39)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,597,015 (GRCm39)		probably benign	Het
Heatr1	G	T	13: 12,411,341 (GRCm39)	A61S	probably benign	Het
Helb	G	T	10: 119,930,147 (GRCm39)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,474,781 (GRCm39)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,286,132 (GRCm39)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,158,461 (GRCm39)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,318,669 (GRCm39)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,327,232 (GRCm39)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 141,783,358 (GRCm39)	K97N	unknown	Het
Lcor	T	C	19: 41,547,705 (GRCm39)	S430P	probably benign	Het
Lpin1	A	G	12: 16,588,541 (GRCm39)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,000,837 (GRCm39)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 96,925,556 (GRCm39)		probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,930,131 (GRCm39)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm39)	L635*	probably null	Het
Nipbl	T	C	15: 8,368,035 (GRCm39)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,160,959 (GRCm39)	D196G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2b2b	A	G	13: 21,858,865 (GRCm39)	I83T	probably benign	Het
Or8b42	A	T	9: 38,342,291 (GRCm39)	I238F	probably benign	Het
Or8k16	A	G	2: 85,520,427 (GRCm39)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,325,833 (GRCm39)	N350K	probably damaging	Het
Pkd1	C	T	17: 24,813,459 (GRCm39)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,516,488 (GRCm39)	V546D	possibly damaging	Het
Plcg2	A	G	8: 118,319,447 (GRCm39)	K673E	probably benign	Het
Pld4	T	G	12: 112,729,826 (GRCm39)		probably null	Het
Plek	A	T	11: 16,942,901 (GRCm39)	N130K	probably damaging	Het
Prune2	G	A	19: 17,101,068 (GRCm39)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,048,723 (GRCm39)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,498,092 (GRCm39)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,786,826 (GRCm39)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,578,188 (GRCm39)	S168P	probably benign	Het
Sec24a	A	G	11: 51,624,590 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,987,984 (GRCm39)	M574I	probably benign	Het
Slk	T	C	19: 47,611,116 (GRCm39)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,991,603 (GRCm39)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,173,525 (GRCm39)	M174L	probably benign	Het
Spz1	T	A	13: 92,711,633 (GRCm39)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,422,814 (GRCm39)	R519S	probably benign	Het
Taf4	T	C	2: 179,618,324 (GRCm39)	H39R	unknown	Het
Tbx5	A	T	5: 119,983,178 (GRCm39)		probably null	Het
Tektl1	T	A	10: 78,583,031 (GRCm39)	K451M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Th	G	A	7: 142,451,903 (GRCm39)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,568,038 (GRCm39)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 155,009,779 (GRCm39)	H50L	possibly damaging	Het
Tpp2	T	A	1: 44,017,885 (GRCm39)		probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim2	A	G	3: 84,098,107 (GRCm39)	I398T	possibly damaging	Het
Trpc5	A	T	X: 143,264,222 (GRCm39)	S212T	probably damaging	Het
Ttn	A	G	2: 76,617,678 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,678,407 (GRCm39)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,518,814 (GRCm39)	S260T	probably benign	Het
Vcan	A	G	13: 89,839,800 (GRCm39)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,589,282 (GRCm39)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,603,385 (GRCm39)	T205A	probably benign	Het

Other mutations in Pik3cd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Pik3cd	APN	4	149,741,917 (GRCm39)	missense	probably damaging	1.00
IGL01536:Pik3cd	APN	4	149,737,123 (GRCm39)	missense	probably damaging	1.00
IGL01636:Pik3cd	APN	4	149,738,772 (GRCm39)	missense	possibly damaging	0.82
IGL02794:Pik3cd	APN	4	149,739,028 (GRCm39)	missense	probably benign
grand_tetons	UTSW	4	149,737,156 (GRCm39)	missense	probably damaging	1.00
Helena	UTSW	4	149,736,277 (GRCm39)	missense	probably damaging	1.00
stinger	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
F5770:Pik3cd	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
R0003:Pik3cd	UTSW	4	149,740,836 (GRCm39)	critical splice donor site	probably null
R0309:Pik3cd	UTSW	4	149,747,677 (GRCm39)	missense	probably damaging	1.00
R1246:Pik3cd	UTSW	4	149,744,257 (GRCm39)	missense	probably damaging	1.00
R1259:Pik3cd	UTSW	4	149,735,105 (GRCm39)	nonsense	probably null
R1533:Pik3cd	UTSW	4	149,739,653 (GRCm39)	missense	probably damaging	1.00
R1796:Pik3cd	UTSW	4	149,738,576 (GRCm39)	missense	possibly damaging	0.83
R1887:Pik3cd	UTSW	4	149,737,091 (GRCm39)	missense	probably damaging	1.00
R1988:Pik3cd	UTSW	4	149,747,660 (GRCm39)	missense	probably damaging	1.00
R2089:Pik3cd	UTSW	4	149,737,156 (GRCm39)	missense	probably damaging	1.00
R2091:Pik3cd	UTSW	4	149,737,156 (GRCm39)	missense	probably damaging	1.00
R4997:Pik3cd	UTSW	4	149,743,441 (GRCm39)	missense	probably damaging	1.00
R5391:Pik3cd	UTSW	4	149,743,588 (GRCm39)	missense	probably damaging	0.98
R5603:Pik3cd	UTSW	4	149,743,312 (GRCm39)	missense	probably benign
R6282:Pik3cd	UTSW	4	149,744,200 (GRCm39)	missense	probably benign	0.00
R6453:Pik3cd	UTSW	4	149,736,759 (GRCm39)	missense	probably damaging	1.00
R7286:Pik3cd	UTSW	4	149,744,171 (GRCm39)	missense	probably benign	0.08
R7423:Pik3cd	UTSW	4	149,736,220 (GRCm39)	critical splice donor site	probably null
R7508:Pik3cd	UTSW	4	149,739,040 (GRCm39)	missense	possibly damaging	0.78
R7665:Pik3cd	UTSW	4	149,738,507 (GRCm39)	missense	possibly damaging	0.70
R7897:Pik3cd	UTSW	4	149,741,726 (GRCm39)	missense	probably benign	0.06
R8039:Pik3cd	UTSW	4	149,744,323 (GRCm39)	missense	possibly damaging	0.91
R8476:Pik3cd	UTSW	4	149,736,277 (GRCm39)	missense	probably damaging	1.00
R9015:Pik3cd	UTSW	4	149,740,055 (GRCm39)	missense	probably benign	0.06
R9252:Pik3cd	UTSW	4	149,740,087 (GRCm39)	missense	possibly damaging	0.88
R9704:Pik3cd	UTSW	4	149,739,839 (GRCm39)	missense	probably benign	0.17
V7580:Pik3cd	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
V7581:Pik3cd	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
V7582:Pik3cd	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
V7583:Pik3cd	UTSW	4	149,741,776 (GRCm39)	missense	probably damaging	1.00
X0023:Pik3cd	UTSW	4	149,744,491 (GRCm39)	missense	probably benign	0.04
Z1176:Pik3cd	UTSW	4	149,739,304 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCCTGTAGTTCACACAGATCCC -3'
(R):5'- AGAGCTTCACCTTCCAGGTATCCAC -3'

Sequencing Primer
(F):5'- TGTAGTTCACACAGATCCCAACAG -3'
(R):5'- AGCCTGAGGAATATGCCCTG -3'

Posted On

2014-05-23