Mutagenetix > Incidental Mutation

Incidental Mutation 'R1796:Pik3cd'

202242

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

039826-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1796 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

149733625-149787023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149738576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 751 (F751L)

Ref Sequence

ENSEMBL: ENSMUSP00000101313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038859] [ENSMUST00000105688] [ENSMUST00000105689] [ENSMUST00000105690] [ENSMUST00000118704] [ENSMUST00000122059] [ENSMUST00000177654]

AlphaFold

O35904

Predicted Effect

probably benign
Transcript: ENSMUST00000038859
AA Change: F752L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000036434
Gene: ENSMUSG00000039936
AA Change: F752L

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

possibly damaging
Transcript: ENSMUST00000105688
AA Change: F751L

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101313
Gene: ENSMUSG00000039936
AA Change: F751L

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: F750L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101314
Gene: ENSMUSG00000039936
AA Change: F750L

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: F754L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101315
Gene: ENSMUSG00000039936
AA Change: F754L

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: F753L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112863
Gene: ENSMUSG00000039936
AA Change: F753L

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

possibly damaging
Transcript: ENSMUST00000122059
AA Change: F747L

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113844
Gene: ENSMUSG00000039936
AA Change: F747L

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: ENSMUST00000177654
AA Change: F754L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136045
Gene: ENSMUSG00000039936
AA Change: F754L

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,662,156 (GRCm39)	S30F	probably benign	Het
Abtb1	T	C	6: 88,813,601 (GRCm39)	D379G	possibly damaging	Het
Adgre1	A	G	17: 57,748,350 (GRCm39)	I517V	probably benign	Het
Ajm1	C	T	2: 25,468,000 (GRCm39)	G637D	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt4	G	A	2: 151,780,909 (GRCm39)	V386M	probably damaging	Het
Asic1	A	G	15: 99,594,535 (GRCm39)	H360R	probably null	Het
Asxl1	G	A	2: 153,243,526 (GRCm39)	A1359T	probably benign	Het
Atp8a2	C	T	14: 60,258,207 (GRCm39)		probably null	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
C1qtnf2	T	A	11: 43,382,114 (GRCm39)	F279I	probably damaging	Het
Car8	A	T	4: 8,221,671 (GRCm39)	L100*	probably null	Het
Cd52	T	C	4: 133,822,295 (GRCm39)	M1V	probably null	Het
Celf5	T	C	10: 81,303,053 (GRCm39)	I163V	possibly damaging	Het
Cep250	A	T	2: 155,834,107 (GRCm39)	T2010S	possibly damaging	Het
Cfap65	C	T	1: 74,958,107 (GRCm39)	V934M	probably damaging	Het
Colec11	A	T	12: 28,644,858 (GRCm39)	I212N	probably damaging	Het
Cpa3	C	T	3: 20,277,391 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,445,553 (GRCm39)	H495N	probably damaging	Het
Cyb5a	T	C	18: 84,869,686 (GRCm39)	V28A	probably benign	Het
Ddo	A	T	10: 40,523,625 (GRCm39)	Q205L	probably benign	Het
Dnah1	T	A	14: 30,983,050 (GRCm39)	N4195I	probably benign	Het
E2f1	A	T	2: 154,402,849 (GRCm39)	V306E	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Eef1d	A	C	15: 75,773,024 (GRCm39)	F25C	probably damaging	Het
Ehd3	A	T	17: 74,137,354 (GRCm39)	I508F	probably damaging	Het
Eml6	T	A	11: 29,831,975 (GRCm39)	I232F	probably benign	Het
Enc1	T	A	13: 97,382,991 (GRCm39)	D500E	probably benign	Het
Enc1	C	A	13: 97,382,993 (GRCm39)	T501K	possibly damaging	Het
Fam83f	C	T	15: 80,574,283 (GRCm39)	R213W	possibly damaging	Het
Fbxo31	A	T	8: 122,287,177 (GRCm39)	L158*	probably null	Het
Fcgbpl1	C	T	7: 27,854,797 (GRCm39)	P1808S	probably damaging	Het
Foxi3	C	A	6: 70,937,794 (GRCm39)	T342N	possibly damaging	Het
Gpr179	T	A	11: 97,227,382 (GRCm39)	D1591V	possibly damaging	Het
Gpsm2	A	G	3: 108,609,166 (GRCm39)	V151A	probably damaging	Het
Grk2	T	G	19: 4,337,968 (GRCm39)	I513L	probably benign	Het
H2-Ab1	A	G	17: 34,486,346 (GRCm39)	E135G	probably damaging	Het
Herc1	A	T	9: 66,296,138 (GRCm39)	K578*	probably null	Het
Hycc1	T	G	5: 24,191,149 (GRCm39)	T173P	probably damaging	Het
Itpr2	T	C	6: 146,198,171 (GRCm39)	N1533S	probably benign	Het
Kif3c	A	G	12: 3,417,299 (GRCm39)	N440S	probably benign	Het
Klhdc2	T	C	12: 69,347,071 (GRCm39)		probably null	Het
Kmo	G	T	1: 175,465,461 (GRCm39)	V72L	probably benign	Het
Krt71	A	G	15: 101,651,315 (GRCm39)	I56T	possibly damaging	Het
Krt72	T	C	15: 101,689,987 (GRCm39)		probably null	Het
Krt78	T	A	15: 101,859,300 (GRCm39)	Q299L	probably damaging	Het
Loxhd1	C	T	18: 77,493,603 (GRCm39)	R1521C	probably damaging	Het
Loxhd1	G	A	18: 77,513,335 (GRCm39)	E1774K	possibly damaging	Het
Ly6g6f	T	C	17: 35,302,478 (GRCm39)	S20G	probably benign	Het
Mecr	T	A	4: 131,592,382 (GRCm39)	M282K	probably damaging	Het
Mfsd14a	G	T	3: 116,428,596 (GRCm39)	A353D	probably damaging	Het
Mroh9	A	T	1: 162,873,279 (GRCm39)	N564K	probably damaging	Het
Mrs2	T	A	13: 25,181,111 (GRCm39)	T237S	possibly damaging	Het
Mycbpap	A	G	11: 94,398,377 (GRCm39)	L534S	probably damaging	Het
Myh1	T	C	11: 67,115,183 (GRCm39)	I1906T	probably benign	Het
Myh4	T	A	11: 67,151,150 (GRCm39)	V1935D	probably benign	Het
Myo18a	T	C	11: 77,720,170 (GRCm39)	I684T	possibly damaging	Het
Myo7b	C	T	18: 32,119,728 (GRCm39)	R788H	possibly damaging	Het
Nbea	A	T	3: 55,551,129 (GRCm39)	D2678E	possibly damaging	Het
Ndufs3	A	C	2: 90,729,050 (GRCm39)	Y145*	probably null	Het
Nrros	A	G	16: 31,962,329 (GRCm39)	F563L	probably damaging	Het
Ntn4	T	C	10: 93,581,633 (GRCm39)	V602A	probably damaging	Het
Obscn	C	A	11: 58,920,163 (GRCm39)	R6736L	possibly damaging	Het
Odr4	T	C	1: 150,251,305 (GRCm39)	N283S	probably benign	Het
Or13c7d	T	A	4: 43,770,495 (GRCm39)	D172V	possibly damaging	Het
Or2ag16	T	C	7: 106,351,756 (GRCm39)	I280V	probably benign	Het
Or7g22	C	A	9: 19,049,213 (GRCm39)	T308K	probably benign	Het
Or8d1	T	A	9: 38,766,820 (GRCm39)	V154D	probably benign	Het
Or8g54	C	T	9: 39,707,301 (GRCm39)	P210L	possibly damaging	Het
Or8g55	A	G	9: 39,785,267 (GRCm39)	E232G	probably benign	Het
Plekhh2	A	G	17: 84,906,561 (GRCm39)		probably null	Het
Postn	A	G	3: 54,281,177 (GRCm39)	H434R	probably damaging	Het
Prss39	A	G	1: 34,539,114 (GRCm39)	D118G	possibly damaging	Het
Ralyl	G	T	3: 14,208,493 (GRCm39)	G211V	possibly damaging	Het
Rbak	T	A	5: 143,159,202 (GRCm39)	E617V	probably damaging	Het
Rbms3	A	T	9: 116,548,401 (GRCm39)	W80R	probably damaging	Het
Retnlg	A	T	16: 48,694,610 (GRCm39)	Y86F	probably benign	Het
Rtel1	T	A	2: 180,993,896 (GRCm39)	S643T	probably benign	Het
Semp2l2a	A	T	8: 13,886,816 (GRCm39)	L425*	probably null	Het
Serpina11	A	T	12: 103,950,954 (GRCm39)	F256I	probably damaging	Het
Setd2	A	T	9: 110,446,884 (GRCm39)		probably null	Het
Setd2	A	T	9: 110,379,413 (GRCm39)	Y1076F	probably benign	Het
Sgsm1	T	C	5: 113,421,483 (GRCm39)	T248A	possibly damaging	Het
Slc6a21	T	C	7: 44,930,179 (GRCm39)	Y193H	probably damaging	Het
Slfn9	T	C	11: 82,872,781 (GRCm39)	K652E	probably benign	Het
Stt3b	A	T	9: 115,077,675 (GRCm39)	Y692*	probably null	Het
Sval3	A	G	6: 41,945,096 (GRCm39)	Q8R	probably benign	Het
Synm	T	A	7: 67,383,748 (GRCm39)	I1305F	possibly damaging	Het
Tdrd1	T	C	19: 56,826,215 (GRCm39)	F169L	probably damaging	Het
Tecta	T	A	9: 42,295,493 (GRCm39)	D334V	probably damaging	Het
Tle2	G	A	10: 81,425,331 (GRCm39)		probably null	Het
Tmem243	A	G	5: 9,166,489 (GRCm39)	I30V	probably benign	Het
Treml2	T	C	17: 48,616,530 (GRCm39)	*330R	probably null	Het
Trpm6	A	G	19: 18,804,931 (GRCm39)	D961G	possibly damaging	Het
Ubr4	T	C	4: 139,155,907 (GRCm39)	V2244A	probably benign	Het
Unc79	G	T	12: 103,109,005 (GRCm39)	V2148F	probably damaging	Het
Ush2a	A	C	1: 188,643,024 (GRCm39)	T4129P	probably benign	Het
Vgll2	G	A	10: 51,901,324 (GRCm39)	V85I	probably damaging	Het
Vmn1r16	T	C	6: 57,300,256 (GRCm39)	Y122C	probably benign	Het
Vmn1r22	A	T	6: 57,877,134 (GRCm39)	I91N	probably damaging	Het
Vmn2r70	A	T	7: 85,213,011 (GRCm39)	Y465*	probably null	Het
Wdr64	A	T	1: 175,544,897 (GRCm39)	E110V	probably damaging	Het
Wfdc6a	A	T	2: 164,422,231 (GRCm39)	C123S	probably damaging	Het
Xrcc1	A	G	7: 24,247,252 (GRCm39)	Y30C	probably damaging	Het
Zdhhc7	T	C	8: 120,812,157 (GRCm39)	K155R	probably benign	Het
Zfp560	A	G	9: 20,263,226 (GRCm39)	F50S	possibly damaging	Het
Zfp616	C	T	11: 73,976,671 (GRCm39)	T980I	probably damaging	Het
Zfp808	C	T	13: 62,319,670 (GRCm39)	P300S	probably damaging	Het
Zfp979	G	A	4: 147,697,740 (GRCm39)	T323I	probably damaging	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
R1756:Pik3cd	UTSW	4	149,743,207 (GRCm39)	missense	probably benign	0.02
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'- TGGGTATCCGTTCTTAGGTCCC -3'
(R):5'- GCCCCAAACCAAGGAGATGATG -3'

Sequencing Primer
(F):5'- GTATCCGTTCTTAGGTCCCAGGAC -3'
(R):5'- ATATGTGCATGCGCCAGG -3'

Posted On

2014-06-23