Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Pi4ka'

530926

Institutional Source

Beutler Lab

Gene Symbol

Pi4ka

Ensembl Gene

ENSMUSG00000041720

Gene Name

phosphatidylinositol 4-kinase alpha

Synonyms

Pik4ca

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17280351-17406314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17376982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 184 (L184P)

Ref Sequence

ENSEMBL: ENSMUSP00000036162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000154364] [ENSMUST00000232232]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036161
AA Change: L184P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: L184P

Domain	Start	End	E-Value	Type
low complexity region	198	221	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
SCOP:d1gw5a_	268	675	2e-3	SMART
low complexity region	895	907	N/A	INTRINSIC
PI3Ka	1483	1671	2.11e-54	SMART
Blast:PI3Kc	1688	1762	2e-39	BLAST
PI3Kc	1788	2041	4.04e-106	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: L184P

Domain	Start	End	E-Value	Type
low complexity region	198	221	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
SCOP:d1gw5a_	268	675	2e-3	SMART
low complexity region	895	907	N/A	INTRINSIC
PI3Ka	1483	1671	2.11e-54	SMART
Blast:PI3Kc	1688	1762	2e-39	BLAST
PI3Kc	1788	2041	4.04e-106	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232232
AA Change: L184P

Meta Mutation Damage Score

0.1965

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151 (GRCm38)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906 (GRCm38)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553 (GRCm38)	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570 (GRCm38)		probably null	Het
Akap10	A	T	11: 61,886,777 (GRCm38)	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190 (GRCm38)	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398 (GRCm38)	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308 (GRCm38)	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205 (GRCm38)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786 (GRCm38)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524 (GRCm38)	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637 (GRCm38)	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020 (GRCm38)	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128 (GRCm38)	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300 (GRCm38)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979 (GRCm38)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128 (GRCm38)	T559I	unknown	Het
Comt	T	C	16: 18,408,021 (GRCm38)	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404 (GRCm38)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130 (GRCm38)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987 (GRCm38)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906 (GRCm38)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339 (GRCm38)	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061 (GRCm38)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159 (GRCm38)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254 (GRCm38)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084 (GRCm38)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747 (GRCm38)	D385G	probably null	Het
Ints1	T	A	5: 139,765,175 (GRCm38)	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078 (GRCm38)	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379 (GRCm38)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377 (GRCm38)	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776 (GRCm38)	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362 (GRCm38)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358 (GRCm38)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374 (GRCm38)	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882 (GRCm38)	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626 (GRCm38)	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798 (GRCm38)	M33I	probably benign	Het
Otog	A	C	7: 46,249,071 (GRCm38)	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115 (GRCm38)	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480 (GRCm38)	D1238E	probably damaging	Het
Pkd1l3	C	T	8: 109,624,449 (GRCm38)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663 (GRCm38)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956 (GRCm38)	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456 (GRCm38)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100 (GRCm38)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055 (GRCm38)	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973 (GRCm38)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247 (GRCm38)	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610 (GRCm38)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906 (GRCm38)		probably benign	Het
Son	A	G	16: 91,657,188 (GRCm38)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785 (GRCm38)	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259 (GRCm38)		probably null	Het
Tprn	A	G	2: 25,264,038 (GRCm38)	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377 (GRCm38)	M1K	probably null	Het
Ttn	C	A	2: 76,738,221 (GRCm38)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527 (GRCm38)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm38)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911 (GRCm38)	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734 (GRCm38)	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096 (GRCm38)	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029 (GRCm38)	I483N	probably damaging	Het

Other mutations in Pi4ka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Pi4ka	APN	16	17,308,144 (GRCm38)	missense	probably benign
IGL00984:Pi4ka	APN	16	17,358,932 (GRCm38)	nonsense	probably null
IGL01066:Pi4ka	APN	16	17,348,773 (GRCm38)	splice site	probably benign
IGL01460:Pi4ka	APN	16	17,357,651 (GRCm38)	missense	probably damaging	1.00
IGL01505:Pi4ka	APN	16	17,309,358 (GRCm38)	missense	probably benign	0.22
IGL01518:Pi4ka	APN	16	17,280,735 (GRCm38)	missense	probably benign	0.03
IGL01533:Pi4ka	APN	16	17,308,201 (GRCm38)	missense	probably benign	0.30
IGL01565:Pi4ka	APN	16	17,389,442 (GRCm38)	utr 5 prime	probably benign
IGL01679:Pi4ka	APN	16	17,296,888 (GRCm38)	splice site	probably benign
IGL01685:Pi4ka	APN	16	17,325,202 (GRCm38)	missense	probably benign	0.09
IGL01734:Pi4ka	APN	16	17,297,260 (GRCm38)	missense	probably benign	0.23
IGL01799:Pi4ka	APN	16	17,389,371 (GRCm38)	missense	probably damaging	1.00
IGL01969:Pi4ka	APN	16	17,378,483 (GRCm38)	missense	probably benign	0.15
IGL02092:Pi4ka	APN	16	17,318,496 (GRCm38)	missense	probably benign	0.00
IGL02113:Pi4ka	APN	16	17,373,415 (GRCm38)	missense	probably benign	0.00
IGL02177:Pi4ka	APN	16	17,318,282 (GRCm38)	missense	probably benign	0.09
IGL02400:Pi4ka	APN	16	17,293,884 (GRCm38)	missense	probably damaging	0.98
IGL02426:Pi4ka	APN	16	17,378,432 (GRCm38)	splice site	probably benign
IGL02474:Pi4ka	APN	16	17,325,429 (GRCm38)	missense	probably damaging	1.00
IGL02587:Pi4ka	APN	16	17,317,353 (GRCm38)	missense	probably damaging	1.00
IGL02667:Pi4ka	APN	16	17,295,461 (GRCm38)	missense	possibly damaging	0.82
IGL02698:Pi4ka	APN	16	17,291,168 (GRCm38)	missense	probably damaging	1.00
IGL02815:Pi4ka	APN	16	17,358,889 (GRCm38)	splice site	probably benign
IGL02828:Pi4ka	APN	16	17,280,711 (GRCm38)	intron	probably benign
IGL02939:Pi4ka	APN	16	17,354,210 (GRCm38)	missense	probably damaging	0.97
IGL03123:Pi4ka	APN	16	17,282,675 (GRCm38)	missense	possibly damaging	0.95
IGL03148:Pi4ka	APN	16	17,354,189 (GRCm38)	missense	probably damaging	0.99
arachnoid	UTSW	16	17,285,281 (GRCm38)	unclassified	probably benign
dove_bar	UTSW	16	17,326,052 (GRCm38)	splice site	probably null
mia	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
Pia	UTSW	16	17,281,044 (GRCm38)	missense	probably damaging	1.00
G1patch:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
IGL03098:Pi4ka	UTSW	16	17,326,027 (GRCm38)	missense	probably damaging	1.00
R0024:Pi4ka	UTSW	16	17,315,535 (GRCm38)	splice site	probably benign
R0054:Pi4ka	UTSW	16	17,325,114 (GRCm38)	missense	probably null	1.00
R0054:Pi4ka	UTSW	16	17,325,114 (GRCm38)	missense	probably null	1.00
R0243:Pi4ka	UTSW	16	17,297,635 (GRCm38)	missense	probably benign	0.44
R0374:Pi4ka	UTSW	16	17,282,932 (GRCm38)	unclassified	probably benign
R0478:Pi4ka	UTSW	16	17,309,311 (GRCm38)	missense	possibly damaging	0.92
R0548:Pi4ka	UTSW	16	17,307,718 (GRCm38)	missense	possibly damaging	0.75
R0626:Pi4ka	UTSW	16	17,293,901 (GRCm38)	missense	probably benign	0.00
R0918:Pi4ka	UTSW	16	17,285,260 (GRCm38)	missense	possibly damaging	0.61
R1082:Pi4ka	UTSW	16	17,389,352 (GRCm38)	missense	probably damaging	1.00
R1384:Pi4ka	UTSW	16	17,297,537 (GRCm38)	splice site	probably benign
R1455:Pi4ka	UTSW	16	17,363,954 (GRCm38)	missense	probably benign	0.02
R1479:Pi4ka	UTSW	16	17,373,400 (GRCm38)	missense	probably benign	0.08
R1490:Pi4ka	UTSW	16	17,386,268 (GRCm38)	missense	probably damaging	1.00
R1565:Pi4ka	UTSW	16	17,281,900 (GRCm38)	missense	probably null
R1594:Pi4ka	UTSW	16	17,373,419 (GRCm38)	splice site	probably benign
R1641:Pi4ka	UTSW	16	17,377,030 (GRCm38)	missense	probably benign	0.00
R1694:Pi4ka	UTSW	16	17,295,376 (GRCm38)	missense	probably damaging	0.99
R1828:Pi4ka	UTSW	16	17,280,750 (GRCm38)	missense	probably benign	0.00
R1864:Pi4ka	UTSW	16	17,367,525 (GRCm38)	nonsense	probably null
R2036:Pi4ka	UTSW	16	17,303,112 (GRCm38)	missense	probably damaging	1.00
R2151:Pi4ka	UTSW	16	17,367,507 (GRCm38)	missense	probably benign	0.44
R2844:Pi4ka	UTSW	16	17,350,793 (GRCm38)	missense	probably damaging	0.97
R2876:Pi4ka	UTSW	16	17,367,550 (GRCm38)	missense	possibly damaging	0.77
R3953:Pi4ka	UTSW	16	17,285,281 (GRCm38)	unclassified	probably benign
R3972:Pi4ka	UTSW	16	17,293,875 (GRCm38)	missense	probably damaging	1.00
R4357:Pi4ka	UTSW	16	17,367,439 (GRCm38)	missense	probably benign	0.00
R4385:Pi4ka	UTSW	16	17,386,265 (GRCm38)	missense	probably benign	0.13
R4427:Pi4ka	UTSW	16	17,281,044 (GRCm38)	missense	probably damaging	1.00
R4436:Pi4ka	UTSW	16	17,282,382 (GRCm38)	missense	probably damaging	1.00
R4677:Pi4ka	UTSW	16	17,282,373 (GRCm38)	missense	probably damaging	1.00
R4683:Pi4ka	UTSW	16	17,297,037 (GRCm38)	missense	possibly damaging	0.73
R4736:Pi4ka	UTSW	16	17,377,175 (GRCm38)	missense	probably benign	0.12
R4804:Pi4ka	UTSW	16	17,308,161 (GRCm38)	missense	possibly damaging	0.75
R4886:Pi4ka	UTSW	16	17,358,361 (GRCm38)	missense
R4893:Pi4ka	UTSW	16	17,377,036 (GRCm38)	missense	probably benign	0.21
R4896:Pi4ka	UTSW	16	17,377,169 (GRCm38)	missense	probably damaging	1.00
R5004:Pi4ka	UTSW	16	17,377,169 (GRCm38)	missense	probably damaging	1.00
R5015:Pi4ka	UTSW	16	17,303,082 (GRCm38)	missense	possibly damaging	0.56
R5062:Pi4ka	UTSW	16	17,309,397 (GRCm38)	missense	probably benign	0.02
R5104:Pi4ka	UTSW	16	17,281,050 (GRCm38)	missense	probably damaging	1.00
R5160:Pi4ka	UTSW	16	17,323,053 (GRCm38)	missense	probably benign	0.01
R5173:Pi4ka	UTSW	16	17,350,906 (GRCm38)	missense	possibly damaging	0.95
R5204:Pi4ka	UTSW	16	17,359,045 (GRCm38)	missense	possibly damaging	0.68
R5307:Pi4ka	UTSW	16	17,323,030 (GRCm38)	missense	probably benign	0.00
R5327:Pi4ka	UTSW	16	17,325,413 (GRCm38)	missense	probably damaging	1.00
R5506:Pi4ka	UTSW	16	17,293,953 (GRCm38)	missense	probably damaging	0.96
R5580:Pi4ka	UTSW	16	17,281,087 (GRCm38)	missense	probably damaging	1.00
R5768:Pi4ka	UTSW	16	17,354,872 (GRCm38)	missense	probably benign	0.29
R5857:Pi4ka	UTSW	16	17,358,984 (GRCm38)	missense	probably benign	0.00
R5951:Pi4ka	UTSW	16	17,303,142 (GRCm38)	missense	probably damaging	1.00
R5953:Pi4ka	UTSW	16	17,281,951 (GRCm38)	missense
R6041:Pi4ka	UTSW	16	17,360,572 (GRCm38)	missense	probably benign
R6223:Pi4ka	UTSW	16	17,357,571 (GRCm38)	nonsense	probably null
R6416:Pi4ka	UTSW	16	17,358,322 (GRCm38)	missense	probably benign	0.22
R6535:Pi4ka	UTSW	16	17,301,036 (GRCm38)	missense	probably damaging	1.00
R6580:Pi4ka	UTSW	16	17,350,830 (GRCm38)	missense	probably damaging	1.00
R6720:Pi4ka	UTSW	16	17,326,052 (GRCm38)	splice site	probably null
R6723:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6725:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6752:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6755:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6767:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6768:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6782:Pi4ka	UTSW	16	17,325,988 (GRCm38)	missense	probably damaging	1.00
R6788:Pi4ka	UTSW	16	17,376,982 (GRCm38)	missense	possibly damaging	0.89
R6849:Pi4ka	UTSW	16	17,303,421 (GRCm38)	missense	possibly damaging	0.54
R6958:Pi4ka	UTSW	16	17,325,227 (GRCm38)	missense	probably damaging	1.00
R7014:Pi4ka	UTSW	16	17,297,067 (GRCm38)	unclassified	probably benign
R7055:Pi4ka	UTSW	16	17,317,015 (GRCm38)	utr 3 prime	probably benign
R7317:Pi4ka	UTSW	16	17,405,632 (GRCm38)	critical splice donor site	probably null
R7533:Pi4ka	UTSW	16	17,297,661 (GRCm38)	missense
R7552:Pi4ka	UTSW	16	17,291,216 (GRCm38)	missense
R7581:Pi4ka	UTSW	16	17,301,060 (GRCm38)	missense
R7622:Pi4ka	UTSW	16	17,293,977 (GRCm38)	missense
R7717:Pi4ka	UTSW	16	17,376,923 (GRCm38)	missense
R8048:Pi4ka	UTSW	16	17,303,127 (GRCm38)	missense
R8052:Pi4ka	UTSW	16	17,356,166 (GRCm38)	missense
R8079:Pi4ka	UTSW	16	17,303,060 (GRCm38)	missense
R8123:Pi4ka	UTSW	16	17,281,092 (GRCm38)	missense
R8211:Pi4ka	UTSW	16	17,282,905 (GRCm38)	missense
R8310:Pi4ka	UTSW	16	17,354,048 (GRCm38)	critical splice donor site	probably null
R8322:Pi4ka	UTSW	16	17,357,573 (GRCm38)	missense
R8509:Pi4ka	UTSW	16	17,354,144 (GRCm38)	missense
R8735:Pi4ka	UTSW	16	17,318,370 (GRCm38)	missense
R8912:Pi4ka	UTSW	16	17,389,366 (GRCm38)	missense
R8917:Pi4ka	UTSW	16	17,312,446 (GRCm38)	missense
R8921:Pi4ka	UTSW	16	17,307,740 (GRCm38)	missense
R8941:Pi4ka	UTSW	16	17,296,943 (GRCm38)	unclassified	probably benign
R9002:Pi4ka	UTSW	16	17,299,453 (GRCm38)	missense
R9203:Pi4ka	UTSW	16	17,282,301 (GRCm38)	missense
R9222:Pi4ka	UTSW	16	17,358,361 (GRCm38)	missense
R9230:Pi4ka	UTSW	16	17,281,924 (GRCm38)	missense
R9262:Pi4ka	UTSW	16	17,302,995 (GRCm38)	missense
R9338:Pi4ka	UTSW	16	17,317,363 (GRCm38)	missense
R9374:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9436:Pi4ka	UTSW	16	17,307,806 (GRCm38)	missense
R9499:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9501:Pi4ka	UTSW	16	17,386,292 (GRCm38)	missense
R9551:Pi4ka	UTSW	16	17,307,710 (GRCm38)	missense
R9705:Pi4ka	UTSW	16	17,281,951 (GRCm38)	missense
RF007:Pi4ka	UTSW	16	17,297,233 (GRCm38)	missense
U24488:Pi4ka	UTSW	16	17,325,176 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAGTGAGTTCTAGTCTGGGCTAC -3'
(R):5'- CATGCCTGATAGGAATCTCAAGATC -3'

Sequencing Primer
(F):5'- GCTACAGAGTGAGACCCTTTC -3'
(R):5'- CTCAAGATCTTTTGGACGTTACAGC -3'

Posted On

2018-08-01