Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Pik3c2b'

724760

Institutional Source

Beutler Lab

Gene Symbol

Pik3c2b

Ensembl Gene

ENSMUSG00000026447

Gene Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

Synonyms

C330011J12Rik, PI3K-C2beta

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133045667-133108687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133071607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 398 (S398P)

Ref Sequence

ENSEMBL: ENSMUSP00000076911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077730] [ENSMUST00000153707]

AlphaFold

E9QAN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077730
AA Change: S398P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076911
Gene: ENSMUSG00000026447
AA Change: S398P

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
PI3K_rbd	363	465	2.15e-19	SMART
PI3K_C2	618	726	6.17e-29	SMART
PI3Ka	804	990	1.66e-84	SMART
PI3Kc	1078	1340	3.45e-132	SMART
PX	1364	1476	9.44e-27	SMART
low complexity region	1481	1492	N/A	INTRINSIC
C2	1517	1622	1.82e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153707

SMART Domains

Protein: ENSMUSP00000115469
Gene: ENSMUSG00000026447

Domain	Start	End	E-Value	Type
low complexity region	155	160	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal epidermal growth, differentiation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	C	A	12: 55,382,257	H538N	probably benign	Het
2410131K14Rik	C	T	5: 118,255,815	T86I	possibly damaging	Het
Abca1	T	C	4: 53,092,918	T289A	probably benign	Het
Adnp	A	T	2: 168,182,743	S877R	probably benign	Het
Akap13	T	A	7: 75,736,342	H555Q	probably benign	Het
Alg6	T	A	4: 99,726,894	Y38*	probably null	Het
Amtn	C	A	5: 88,380,346	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,402,598	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,486,237		probably benign	Het
Bhmt	A	G	13: 93,621,571	S211P	possibly damaging	Het
Bmp1	T	C	14: 70,477,866	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Cbfb	A	C	8: 105,178,611	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,167,381	F249L	probably damaging	Het
Cdh26	T	A	2: 178,470,190	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,718,537	E352G		Het
Cep295nl	G	A	11: 118,333,940	P26L	possibly damaging	Het
Cfdp1	A	G	8: 111,845,175	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,988,792	I846F	probably damaging	Het
Cntrl	A	G	2: 35,160,266	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,506,250	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,849,720	S778R		Het
Daam2	C	T	17: 49,473,304	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,561,403	H305R	probably damaging	Het
Dio1	C	T	4: 107,292,361	C248Y	probably benign	Het
Dnah1	C	A	14: 31,294,815	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,479,350	D319E	probably benign	Het
Fam171b	G	A	2: 83,812,765	R6H	probably damaging	Het
Fam214a	A	G	9: 75,010,230	N711D	possibly damaging	Het
Flnb	G	A	14: 7,926,421	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,122,020	V303I	possibly damaging	Het
Gli3	T	G	13: 15,726,668	S1547A	probably benign	Het
Gm4884	A	T	7: 41,043,687	N360I	possibly damaging	Het
Gm9573	T	A	17: 35,621,828	T489S	unknown	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Ino80	C	G	2: 119,450,015	K289N	probably damaging	Het
Itpr1	G	A	6: 108,416,909	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,117,468	I45F	unknown	Het
Kif1a	G	A	1: 93,055,723	P684L	probably benign	Het
Kpnb1	A	T	11: 97,167,634	S610T	probably benign	Het
Man1a2	A	G	3: 100,684,645	V73A	probably benign	Het
Mbtps1	A	G	8: 119,508,882	V1019A	possibly damaging	Het
Nup210	G	C	6: 91,017,393	N1774K	probably benign	Het
Olfr763	G	T	10: 129,011,890	V202F	probably benign	Het
Pmpca	A	G	2: 26,389,976	T37A	probably benign	Het
Ppfia1	A	G	7: 144,498,779	S840P	probably damaging	Het
Prkcq	A	T	2: 11,256,203	K355N	probably benign	Het
Ptprg	A	G	14: 12,237,809	K1422R	probably benign	Het
Ptprq	T	C	10: 107,542,662	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,795,389		probably null	Het
Rcor2	A	T	19: 7,274,226	T412S	probably benign	Het
Rnf224	A	T	2: 25,236,188	M51K	probably benign	Het
Robo4	A	G	9: 37,406,213	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,176,799	S360T	unknown	Het
Sgo2b	T	C	8: 63,927,617	D727G	probably damaging	Het
Smpd2	C	A	10: 41,488,287	V172L	probably benign	Het
Syne1	C	T	10: 5,323,887	A1966T	probably benign	Het
Syt13	G	A	2: 92,915,230	G15D	possibly damaging	Het
Taf3	A	T	2: 9,918,259	L18Q	unknown	Het
Tcam1	T	A	11: 106,285,433	N328K	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tet2	A	T	3: 133,488,006	Y222*	probably null	Het
Timm29	A	T	9: 21,592,922		probably benign	Het
Tmc6	T	C	11: 117,779,169	D17G	probably benign	Het
Tmem30a	T	A	9: 79,780,644	D81V	probably benign	Het
Tnnt1	T	C	7: 4,508,502	I195V	probably benign	Het
Ttc30b	T	C	2: 75,937,800	Y203C	probably damaging	Het
Ttll5	T	A	12: 85,892,122	V398E	possibly damaging	Het
Ttn	T	C	2: 76,918,097	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,387,447	I272T	probably damaging	Het
Uhrf1bp1	T	A	17: 27,886,779	S760T	probably benign	Het
Unc45a	A	G	7: 80,334,037	L337P	probably damaging	Het
Vmn1r229	T	C	17: 20,815,053	F187L	probably benign	Het
Wrn	A	T	8: 33,324,273	M381K	probably benign	Het
Zdbf2	A	G	1: 63,303,476	N338S	possibly damaging	Het
Zfp541	A	G	7: 16,071,967	E9G	possibly damaging	Het
Zrsr1	G	A	11: 22,973,418	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,722,163	S1614T	probably benign	Het

Other mutations in Pik3c2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Pik3c2b	APN	1	133091618	missense	probably damaging	0.98
IGL01288:Pik3c2b	APN	1	133094805	missense	probably damaging	0.96
IGL01313:Pik3c2b	APN	1	133071631	nonsense	probably null
IGL01367:Pik3c2b	APN	1	133105988	missense	probably benign	0.02
IGL02379:Pik3c2b	APN	1	133094791	missense	probably damaging	1.00
IGL02638:Pik3c2b	APN	1	133077318	splice site	probably benign
IGL02728:Pik3c2b	APN	1	133092327	missense	probably benign	0.09
IGL02992:Pik3c2b	APN	1	133066980	nonsense	probably null
IGL03121:Pik3c2b	APN	1	133079745	missense	probably benign	0.00
R0453:Pik3c2b	UTSW	1	133077396	missense	probably damaging	1.00
R0518:Pik3c2b	UTSW	1	133105992	missense	probably damaging	1.00
R0616:Pik3c2b	UTSW	1	133100831	missense	probably damaging	1.00
R0659:Pik3c2b	UTSW	1	133071200	missense	probably damaging	0.99
R1542:Pik3c2b	UTSW	1	133090034	missense	probably damaging	1.00
R1716:Pik3c2b	UTSW	1	133094826	missense	probably damaging	1.00
R1728:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1729:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1730:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1739:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1762:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1783:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1784:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1785:Pik3c2b	UTSW	1	133066627	missense	probably benign	0.00
R1816:Pik3c2b	UTSW	1	133101370	missense	probably benign	0.00
R1897:Pik3c2b	UTSW	1	133066916	missense	possibly damaging	0.57
R2006:Pik3c2b	UTSW	1	133066544	missense	probably damaging	1.00
R2067:Pik3c2b	UTSW	1	133099611	missense	probably damaging	1.00
R2271:Pik3c2b	UTSW	1	133103428	missense	probably benign
R2294:Pik3c2b	UTSW	1	133066775	missense	probably damaging	1.00
R2320:Pik3c2b	UTSW	1	133103413	missense	probably damaging	1.00
R4735:Pik3c2b	UTSW	1	133067049	missense	probably benign	0.25
R4926:Pik3c2b	UTSW	1	133099626	nonsense	probably null
R4948:Pik3c2b	UTSW	1	133099715	critical splice donor site	probably null
R4997:Pik3c2b	UTSW	1	133105081	missense	probably damaging	1.00
R5304:Pik3c2b	UTSW	1	133070408	missense	possibly damaging	0.50
R5461:Pik3c2b	UTSW	1	133099702	missense	possibly damaging	0.66
R5722:Pik3c2b	UTSW	1	133103836	missense	probably damaging	1.00
R5971:Pik3c2b	UTSW	1	133074627	splice site	probably null
R5980:Pik3c2b	UTSW	1	133088308	missense	probably benign	0.43
R6036:Pik3c2b	UTSW	1	133090713	missense	possibly damaging	0.95
R6138:Pik3c2b	UTSW	1	133074627	splice site	probably null
R6223:Pik3c2b	UTSW	1	133070357	missense	probably damaging	1.00
R6273:Pik3c2b	UTSW	1	133066711	missense	probably benign	0.02
R6742:Pik3c2b	UTSW	1	133075821	missense	probably benign
R6954:Pik3c2b	UTSW	1	133066303	missense	possibly damaging	0.50
R6998:Pik3c2b	UTSW	1	133102372	missense	probably benign	0.23
R7103:Pik3c2b	UTSW	1	133105974	missense	probably damaging	1.00
R7133:Pik3c2b	UTSW	1	133090234	missense	possibly damaging	0.73
R7161:Pik3c2b	UTSW	1	133106112	missense	probably damaging	0.98
R7183:Pik3c2b	UTSW	1	133066465	missense	probably benign	0.00
R7193:Pik3c2b	UTSW	1	133079774	missense	probably benign	0.00
R7252:Pik3c2b	UTSW	1	133094734	missense	probably benign	0.19
R7263:Pik3c2b	UTSW	1	133090202	missense	probably damaging	0.98
R7404:Pik3c2b	UTSW	1	133090706	missense	probably damaging	1.00
R7709:Pik3c2b	UTSW	1	133079841	critical splice donor site	probably null
R7712:Pik3c2b	UTSW	1	133085611	missense	probably damaging	1.00
R7823:Pik3c2b	UTSW	1	133102305	missense	probably damaging	1.00
R7831:Pik3c2b	UTSW	1	133071242	missense	possibly damaging	0.94
R7913:Pik3c2b	UTSW	1	133090061	critical splice donor site	probably null
R7916:Pik3c2b	UTSW	1	133100904	missense	probably benign	0.30
R7960:Pik3c2b	UTSW	1	133103849	missense	probably damaging	1.00
R7981:Pik3c2b	UTSW	1	133075809	critical splice acceptor site	probably null
R8346:Pik3c2b	UTSW	1	133090246	missense	probably damaging	0.97
R8938:Pik3c2b	UTSW	1	133088330	missense	probably benign	0.19
R8997:Pik3c2b	UTSW	1	133090779	missense	possibly damaging	0.83
R9416:Pik3c2b	UTSW	1	133077449	missense	probably damaging	1.00
R9598:Pik3c2b	UTSW	1	133084987	critical splice donor site	probably null
R9742:Pik3c2b	UTSW	1	133094749	missense	probably damaging	1.00
R9776:Pik3c2b	UTSW	1	133090850	missense	possibly damaging	0.64
R9786:Pik3c2b	UTSW	1	133091600	missense	possibly damaging	0.94
U15987:Pik3c2b	UTSW	1	133074627	splice site	probably null
X0060:Pik3c2b	UTSW	1	133084936	missense	probably benign	0.18
Z1176:Pik3c2b	UTSW	1	133066553	missense	probably damaging	1.00
Z1176:Pik3c2b	UTSW	1	133099686	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGGCAGGGAGGACTATTC -3'
(R):5'- CCAGAAGGCAAGTGTCACTTC -3'

Sequencing Primer
(F):5'- TCTGTCGCCTGAATGAAGAC -3'
(R):5'- GAAGGCAAGTGTCACTTCAGTCTC -3'

Posted On

2022-09-12