Incidental Mutation 'R2187:Pip5k1a'
ID237859
Institutional Source Beutler Lab
Gene Symbol Pip5k1a
Ensembl Gene ENSMUSG00000028126
Gene Namephosphatidylinositol-4-phosphate 5-kinase, type 1 alpha
SynonymsPipk5a
MMRRC Submission 040189-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2187 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location95058530-95106930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 95071918 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 189 (L189Q)
Ref Sequence ENSEMBL: ENSMUSP00000102855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005768] [ENSMUST00000107232] [ENSMUST00000107233] [ENSMUST00000107236]
Predicted Effect probably damaging
Transcript: ENSMUST00000005768
AA Change: L188Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005768
Gene: ENSMUSG00000028126
AA Change: L188Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
PIPKc 93 434 2.79e-184 SMART
low complexity region 447 461 N/A INTRINSIC
low complexity region 508 523 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107231
Predicted Effect probably damaging
Transcript: ENSMUST00000107232
AA Change: L188Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102851
Gene: ENSMUSG00000028126
AA Change: L188Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
PIPKc 93 434 2.79e-184 SMART
low complexity region 460 475 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107233
AA Change: L190Q

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102852
Gene: ENSMUSG00000028126
AA Change: L190Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 18 30 N/A INTRINSIC
PIPKc 95 436 2.79e-184 SMART
low complexity region 449 463 N/A INTRINSIC
low complexity region 510 525 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107236
AA Change: L189Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102855
Gene: ENSMUSG00000028126
AA Change: L189Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 18 29 N/A INTRINSIC
PIPKc 94 435 2.79e-184 SMART
low complexity region 448 462 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit partial lethality and reduced male fertility associated with asthenozoospermia and abnormal midpiece morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310050C09Rik A G 3: 92,868,615 S254P probably damaging Het
Abcg1 T A 17: 31,105,517 S245R probably damaging Het
AI597479 T A 1: 43,100,823 W70R probably damaging Het
Ankrd55 A G 13: 112,383,505 S575G probably benign Het
Bfsp2 T A 9: 103,426,777 K343* probably null Het
Cant1 A T 11: 118,408,841 Y227* probably null Het
Cd2bp2 T C 7: 127,194,791 N109D probably benign Het
Chmp6 A G 11: 119,916,736 E135G possibly damaging Het
Dsp T G 13: 38,176,407 S329R probably damaging Het
Epha5 A T 5: 84,086,364 F767L probably damaging Het
Epha7 A T 4: 28,942,648 T566S possibly damaging Het
Erap1 A T 13: 74,662,405 I288F probably damaging Het
Erich6 A G 3: 58,629,845 probably null Het
Fbxo10 A G 4: 45,058,531 V402A probably benign Het
Fndc1 T A 17: 7,741,772 I1604F probably damaging Het
Foxd4 T G 19: 24,899,855 Q327P probably damaging Het
Fxn T A 19: 24,280,489 N26I probably benign Het
Hsf5 G T 11: 87,638,184 G582C possibly damaging Het
Itga8 A G 2: 12,194,420 V522A possibly damaging Het
Lyst C T 13: 13,709,341 T2938I possibly damaging Het
Mib2 T C 4: 155,654,933 E863G possibly damaging Het
Mrgpra9 A G 7: 47,235,049 F290S probably damaging Het
Mst1 T C 9: 108,084,340 Y599H possibly damaging Het
Mylk4 T C 13: 32,722,013 I165V probably damaging Het
Nipsnap2 T C 5: 129,746,473 probably null Het
Nol8 T C 13: 49,661,999 Y528H probably benign Het
Nup93 T A 8: 94,300,850 S295R probably damaging Het
Nutm2 A T 13: 50,467,417 Q6L probably benign Het
Olfr11 A T 13: 21,639,385 I46N probably damaging Het
Olfr1445 T A 19: 12,884,255 C125S probably damaging Het
Olfr820 A G 10: 130,017,688 E109G probably damaging Het
Olfr988 T G 2: 85,353,915 S4R probably benign Het
Plekha4 C T 7: 45,549,274 R574C probably damaging Het
Ppp2cb A G 8: 33,610,677 E42G possibly damaging Het
Prkd3 T A 17: 78,975,554 Q244L probably benign Het
Ptpn14 C T 1: 189,863,228 R1023* probably null Het
Ptpra A G 2: 130,504,299 T127A probably benign Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,753,992 probably benign Het
Rasgrf1 T C 9: 89,994,835 I751T possibly damaging Het
Rbm27 A G 18: 42,325,957 K697R probably damaging Het
Rhoa C T 9: 108,335,153 T127M probably benign Het
Rnpepl1 A G 1: 92,916,895 S370G probably null Het
Sdk1 C T 5: 142,114,574 T1453I probably damaging Het
Sel1l2 A G 2: 140,230,873 L614S probably damaging Het
Slc6a20b T A 9: 123,598,588 I419F probably damaging Het
Slc8a1 C T 17: 81,648,553 S352N possibly damaging Het
Spta1 A G 1: 174,192,966 D547G probably damaging Het
Tc2n G A 12: 101,706,544 T46I probably damaging Het
Terb1 T A 8: 104,472,884 Y476F probably benign Het
Trim12a T A 7: 104,304,192 E237D probably damaging Het
Usp47 T C 7: 112,067,191 L309P probably damaging Het
Other mutations in Pip5k1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Pip5k1a APN 3 95068160 missense probably benign 0.15
IGL01647:Pip5k1a APN 3 95074072 missense probably damaging 1.00
IGL02536:Pip5k1a APN 3 95064396 missense probably benign 0.01
IGL02612:Pip5k1a APN 3 95067413 missense probably benign 0.02
Biden UTSW 3 95068121 missense probably damaging 1.00
Time UTSW 3 95060498 missense possibly damaging 0.76
R0109:Pip5k1a UTSW 3 95065442 missense probably benign 0.03
R0217:Pip5k1a UTSW 3 95073991 critical splice donor site probably null
R0891:Pip5k1a UTSW 3 95065520 splice site probably benign
R1157:Pip5k1a UTSW 3 95078112 missense probably benign 0.15
R1692:Pip5k1a UTSW 3 95063730 missense probably benign 0.00
R2176:Pip5k1a UTSW 3 95065496 missense probably damaging 1.00
R3693:Pip5k1a UTSW 3 95078187 splice site probably benign
R3933:Pip5k1a UTSW 3 95072003 missense probably benign 0.00
R4405:Pip5k1a UTSW 3 95068059 critical splice donor site probably null
R4903:Pip5k1a UTSW 3 95070783 missense probably benign 0.01
R4964:Pip5k1a UTSW 3 95070783 missense probably benign 0.01
R5652:Pip5k1a UTSW 3 95067439 missense probably benign
R6314:Pip5k1a UTSW 3 95068121 missense probably damaging 1.00
R6954:Pip5k1a UTSW 3 95068247 missense probably damaging 1.00
R7090:Pip5k1a UTSW 3 95060498 missense possibly damaging 0.76
R7432:Pip5k1a UTSW 3 95074120 missense probably benign 0.01
X0017:Pip5k1a UTSW 3 95078163 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTATGCAGGAAGACCCAGTCTC -3'
(R):5'- CCCTGGCATGTTTGACTCTG -3'

Sequencing Primer
(F):5'- TAGGGTTCAATGCCATCAGC -3'
(R):5'- CCTGGCATGTTTGACTCTGTTTGAC -3'
Posted On2014-10-02