Incidental Mutation 'R1168:Prag1'
ID101328
Institutional Source Beutler Lab
Gene Symbol Prag1
Ensembl Gene ENSMUSG00000050271
Gene NamePEAK1 related kinase activating pseudokinase 1
SynonymsD8Ertd82e, NACK
MMRRC Submission 039241-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #R1168 (G1)
Quality Score158
Status Not validated
Chromosome8
Chromosomal Location36094828-36147787 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36146645 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1117 (E1117G)
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
Predicted Effect probably damaging
Transcript: ENSMUST00000110492
AA Change: E1117G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: E1117G

DomainStartEndE-ValueType
low complexity region 317 333 N/A INTRINSIC
low complexity region 395 412 N/A INTRINSIC
low complexity region 525 544 N/A INTRINSIC
low complexity region 781 793 N/A INTRINSIC
low complexity region 892 925 N/A INTRINSIC
Pfam:Pkinase_Tyr 1060 1288 1.7e-7 PFAM
Pfam:Pkinase 1061 1293 1.5e-13 PFAM
low complexity region 1363 1373 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,067,900 V950A probably benign Het
4930452B06Rik T C 14: 8,442,939 N610S probably benign Het
Adgrb3 A T 1: 25,826,199 S188T probably benign Het
Ahr A T 12: 35,504,532 N529K possibly damaging Het
Akr1c21 A G 13: 4,583,837 N302D probably benign Het
Aldh8a1 T A 10: 21,384,631 probably null Het
Alpk3 A T 7: 81,103,357 K1554M probably damaging Het
Arhgef5 T A 6: 43,273,396 H360Q probably benign Het
Cacna1a A G 8: 84,579,501 I1293V probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cd200r4 T A 16: 44,832,944 W72R probably damaging Het
Ces2e A T 8: 104,927,014 D28V possibly damaging Het
Cfap45 T C 1: 172,545,697 Y534H probably damaging Het
Cfap54 A T 10: 92,937,920 C87S probably damaging Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Chrna4 T A 2: 181,034,138 M67L possibly damaging Het
Cts7 T A 13: 61,353,817 N290Y probably damaging Het
Enpp6 A T 8: 47,030,454 M94L probably damaging Het
Fam83d C T 2: 158,768,523 A137V probably benign Het
Foxd2 C T 4: 114,907,678 A382T possibly damaging Het
Galnt11 T G 5: 25,250,246 S193R probably damaging Het
Gapvd1 A T 2: 34,704,469 D856E probably damaging Het
Gclm T A 3: 122,262,688 H86Q possibly damaging Het
Gipc2 T C 3: 152,107,997 T220A probably benign Het
Gm12185 G T 11: 48,915,355 N336K possibly damaging Het
Gm5431 A T 11: 48,895,364 S61R probably benign Het
Gm884 T C 11: 103,618,950 probably benign Het
Gorasp2 C T 2: 70,688,400 P260S probably damaging Het
H2-M10.6 A G 17: 36,813,160 Q172R probably benign Het
Ibsp A G 5: 104,302,152 I6V probably damaging Het
Iqsec1 T C 6: 90,689,676 Y593C probably damaging Het
Itln1 G T 1: 171,531,551 Y61* probably null Het
Kif21a G A 15: 90,993,753 T284I probably damaging Het
Kif3a G A 11: 53,598,312 G621R probably damaging Het
Klb A G 5: 65,378,974 Y549C probably damaging Het
Lman1l G A 9: 57,608,312 R427C probably benign Het
Map4 T C 9: 110,034,964 V419A probably benign Het
Mastl A T 2: 23,133,132 D526E probably benign Het
Mrvi1 T C 7: 110,895,931 K429R probably damaging Het
Mtif2 A G 11: 29,536,914 D308G probably benign Het
Ncald A G 15: 37,397,334 F34S probably damaging Het
Ndc1 A G 4: 107,395,812 T593A probably benign Het
Ndst3 C T 3: 123,606,968 V15I probably benign Het
Nup214 A G 2: 32,025,301 N1166D probably benign Het
Olfr1031 A T 2: 85,992,684 Y289F probably damaging Het
Olfr1240 G A 2: 89,439,869 Q137* probably null Het
Olfr1368 A G 13: 21,142,617 S147P probably benign Het
Olfr403 A G 11: 74,196,421 H306R probably benign Het
Pcdhb8 T C 18: 37,356,727 I486T probably benign Het
Pdzrn4 A T 15: 92,770,271 Y768F probably benign Het
Pgf A G 12: 85,171,767 S70P probably benign Het
Plcl2 G A 17: 50,607,072 A370T possibly damaging Het
Pnkp T A 7: 44,862,537 W115R probably benign Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prr12 T A 7: 45,029,047 Q1919L unknown Het
Ret G T 6: 118,173,558 H666N possibly damaging Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Robo2 C T 16: 73,948,296 G864S probably damaging Het
Rpa2 T G 4: 132,771,860 I80S probably damaging Het
Ryk A T 9: 102,898,475 D428V probably damaging Het
Slc29a1 A T 17: 45,590,278 N30K probably damaging Het
Stbd1 A G 5: 92,604,936 N95S probably benign Het
Tbc1d22a A G 15: 86,292,134 E212G probably benign Het
Tex14 A G 11: 87,536,742 T7A probably benign Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmem132b G T 5: 125,787,019 V730F probably damaging Het
Tmub2 G A 11: 102,287,370 G33D possibly damaging Het
Trak1 G A 9: 121,440,679 D124N probably damaging Het
Ttc28 A T 5: 111,231,111 Y1154F probably damaging Het
Ttn T C 2: 76,909,369 T3609A probably benign Het
Tulp2 A G 7: 45,517,842 T99A probably benign Het
Ugt2a2 A T 5: 87,465,568 probably null Het
Ush2a G A 1: 188,678,411 V2419I probably benign Het
Vill C A 9: 119,070,321 P343Q probably damaging Het
Vmn2r66 T A 7: 85,006,854 H318L possibly damaging Het
Wdr3 A C 3: 100,142,219 N800K probably benign Het
Wdr93 A G 7: 79,749,174 K19E probably damaging Het
Wrn A G 8: 33,316,408 S333P probably damaging Het
Zfp418 T C 7: 7,182,501 S488P possibly damaging Het
Zfp804a A G 2: 82,256,697 E290G probably benign Het
Other mutations in Prag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Prag1 APN 8 36099931 missense probably benign 0.01
IGL01132:Prag1 APN 8 36146357 missense probably damaging 1.00
IGL01322:Prag1 APN 8 36103934 missense probably benign 0.01
IGL01343:Prag1 APN 8 36103046 missense possibly damaging 0.95
IGL01726:Prag1 APN 8 36102992 missense probably damaging 1.00
IGL01739:Prag1 APN 8 36102680 missense probably benign 0.00
IGL02420:Prag1 APN 8 36147426 utr 3 prime probably benign
IGL02433:Prag1 APN 8 36139568 missense probably damaging 1.00
IGL02627:Prag1 APN 8 36139439 missense possibly damaging 0.93
IGL02797:Prag1 APN 8 36139501 missense probably damaging 1.00
IGL03070:Prag1 APN 8 36103549 missense probably benign 0.01
IGL03323:Prag1 APN 8 36140008 missense probably damaging 1.00
FR4340:Prag1 UTSW 8 36103886 small insertion probably benign
FR4548:Prag1 UTSW 8 36103885 small insertion probably benign
FR4589:Prag1 UTSW 8 36103883 small insertion probably benign
FR4976:Prag1 UTSW 8 36103883 small insertion probably benign
R0325:Prag1 UTSW 8 36103804 missense probably benign 0.00
R0486:Prag1 UTSW 8 36146633 missense probably damaging 1.00
R0506:Prag1 UTSW 8 36103700 missense possibly damaging 0.92
R0507:Prag1 UTSW 8 36104123 missense probably damaging 1.00
R0595:Prag1 UTSW 8 36147002 missense probably damaging 1.00
R0618:Prag1 UTSW 8 36099833 missense probably damaging 1.00
R0618:Prag1 UTSW 8 36099833 missense probably damaging 1.00
R0885:Prag1 UTSW 8 36103267 missense probably benign 0.00
R1015:Prag1 UTSW 8 36146543 missense probably damaging 1.00
R1182:Prag1 UTSW 8 36147259 missense possibly damaging 0.95
R1227:Prag1 UTSW 8 36139951 missense probably damaging 1.00
R1282:Prag1 UTSW 8 36099914 missense probably damaging 0.96
R1469:Prag1 UTSW 8 36146298 splice site probably benign
R1656:Prag1 UTSW 8 36104346 missense probably damaging 1.00
R1660:Prag1 UTSW 8 36140023 missense possibly damaging 0.73
R1676:Prag1 UTSW 8 36102898 missense probably damaging 0.96
R1820:Prag1 UTSW 8 36103804 missense probably benign 0.00
R1970:Prag1 UTSW 8 36129160 splice site probably null
R1974:Prag1 UTSW 8 36102927 missense probably damaging 1.00
R4398:Prag1 UTSW 8 36103655 missense probably damaging 1.00
R4429:Prag1 UTSW 8 36146642 missense probably damaging 1.00
R4627:Prag1 UTSW 8 36103292 missense probably damaging 1.00
R4980:Prag1 UTSW 8 36139586 missense probably damaging 1.00
R5131:Prag1 UTSW 8 36139969 missense probably damaging 1.00
R5215:Prag1 UTSW 8 36099889 missense probably benign 0.06
R5346:Prag1 UTSW 8 36103685 missense probably damaging 1.00
R5414:Prag1 UTSW 8 36139622 missense probably benign 0.00
R5535:Prag1 UTSW 8 36104014 missense probably benign
R5687:Prag1 UTSW 8 36146813 missense probably benign 0.02
R5785:Prag1 UTSW 8 36103487 missense probably benign 0.35
R5817:Prag1 UTSW 8 36103703 missense probably damaging 1.00
R6002:Prag1 UTSW 8 36104183 missense probably benign 0.31
R6127:Prag1 UTSW 8 36147401 missense unknown
R6240:Prag1 UTSW 8 36103352 missense probably benign 0.03
R6277:Prag1 UTSW 8 36146591 missense probably damaging 1.00
R6326:Prag1 UTSW 8 36102706 missense possibly damaging 0.79
R6741:Prag1 UTSW 8 36147280 missense probably benign 0.41
R6925:Prag1 UTSW 8 36103894 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15