Incidental Mutation 'R4398:Prag1'
ID 325588
Institutional Source Beutler Lab
Gene Symbol Prag1
Ensembl Gene ENSMUSG00000050271
Gene Name PEAK1 related kinase activating pseudokinase 1
Synonyms D8Ertd82e, NACK
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 36561982-36614941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36570809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 464 (D464G)
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
AlphaFold Q571I4
Predicted Effect probably damaging
Transcript: ENSMUST00000110492
AA Change: D464G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: D464G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150295
Meta Mutation Damage Score 0.1377 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign Het
Other mutations in Prag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Prag1 APN 8 36,567,085 (GRCm39) missense probably benign 0.01
IGL01132:Prag1 APN 8 36,613,511 (GRCm39) missense probably damaging 1.00
IGL01322:Prag1 APN 8 36,571,088 (GRCm39) missense probably benign 0.01
IGL01343:Prag1 APN 8 36,570,200 (GRCm39) missense possibly damaging 0.95
IGL01726:Prag1 APN 8 36,570,146 (GRCm39) missense probably damaging 1.00
IGL01739:Prag1 APN 8 36,569,834 (GRCm39) missense probably benign 0.00
IGL02420:Prag1 APN 8 36,614,580 (GRCm39) utr 3 prime probably benign
IGL02433:Prag1 APN 8 36,606,722 (GRCm39) missense probably damaging 1.00
IGL02627:Prag1 APN 8 36,606,593 (GRCm39) missense possibly damaging 0.93
IGL02797:Prag1 APN 8 36,606,655 (GRCm39) missense probably damaging 1.00
IGL03070:Prag1 APN 8 36,570,703 (GRCm39) missense probably benign 0.01
IGL03323:Prag1 APN 8 36,607,162 (GRCm39) missense probably damaging 1.00
FR4340:Prag1 UTSW 8 36,571,040 (GRCm39) small insertion probably benign
FR4548:Prag1 UTSW 8 36,571,039 (GRCm39) small insertion probably benign
FR4589:Prag1 UTSW 8 36,571,037 (GRCm39) small insertion probably benign
FR4976:Prag1 UTSW 8 36,571,037 (GRCm39) small insertion probably benign
R0325:Prag1 UTSW 8 36,570,958 (GRCm39) missense probably benign 0.00
R0486:Prag1 UTSW 8 36,613,787 (GRCm39) missense probably damaging 1.00
R0506:Prag1 UTSW 8 36,570,854 (GRCm39) missense possibly damaging 0.92
R0507:Prag1 UTSW 8 36,571,277 (GRCm39) missense probably damaging 1.00
R0595:Prag1 UTSW 8 36,614,156 (GRCm39) missense probably damaging 1.00
R0618:Prag1 UTSW 8 36,566,987 (GRCm39) missense probably damaging 1.00
R0618:Prag1 UTSW 8 36,566,987 (GRCm39) missense probably damaging 1.00
R0885:Prag1 UTSW 8 36,570,421 (GRCm39) missense probably benign 0.00
R1015:Prag1 UTSW 8 36,613,697 (GRCm39) missense probably damaging 1.00
R1168:Prag1 UTSW 8 36,613,799 (GRCm39) missense probably damaging 1.00
R1182:Prag1 UTSW 8 36,614,413 (GRCm39) missense possibly damaging 0.95
R1227:Prag1 UTSW 8 36,607,105 (GRCm39) missense probably damaging 1.00
R1282:Prag1 UTSW 8 36,567,068 (GRCm39) missense probably damaging 0.96
R1469:Prag1 UTSW 8 36,613,452 (GRCm39) splice site probably benign
R1656:Prag1 UTSW 8 36,571,500 (GRCm39) missense probably damaging 1.00
R1660:Prag1 UTSW 8 36,607,177 (GRCm39) missense possibly damaging 0.73
R1676:Prag1 UTSW 8 36,570,052 (GRCm39) missense probably damaging 0.96
R1820:Prag1 UTSW 8 36,570,958 (GRCm39) missense probably benign 0.00
R1970:Prag1 UTSW 8 36,596,314 (GRCm39) splice site probably null
R1974:Prag1 UTSW 8 36,570,081 (GRCm39) missense probably damaging 1.00
R4429:Prag1 UTSW 8 36,613,796 (GRCm39) missense probably damaging 1.00
R4627:Prag1 UTSW 8 36,570,446 (GRCm39) missense probably damaging 1.00
R4980:Prag1 UTSW 8 36,606,740 (GRCm39) missense probably damaging 1.00
R5131:Prag1 UTSW 8 36,607,123 (GRCm39) missense probably damaging 1.00
R5215:Prag1 UTSW 8 36,567,043 (GRCm39) missense probably benign 0.06
R5346:Prag1 UTSW 8 36,570,839 (GRCm39) missense probably damaging 1.00
R5414:Prag1 UTSW 8 36,606,776 (GRCm39) missense probably benign 0.00
R5535:Prag1 UTSW 8 36,571,168 (GRCm39) missense probably benign
R5687:Prag1 UTSW 8 36,613,967 (GRCm39) missense probably benign 0.02
R5785:Prag1 UTSW 8 36,570,641 (GRCm39) missense probably benign 0.35
R5817:Prag1 UTSW 8 36,570,857 (GRCm39) missense probably damaging 1.00
R6002:Prag1 UTSW 8 36,571,337 (GRCm39) missense probably benign 0.31
R6127:Prag1 UTSW 8 36,614,555 (GRCm39) missense unknown
R6240:Prag1 UTSW 8 36,570,506 (GRCm39) missense probably benign 0.03
R6277:Prag1 UTSW 8 36,613,745 (GRCm39) missense probably damaging 1.00
R6326:Prag1 UTSW 8 36,569,860 (GRCm39) missense possibly damaging 0.79
R6741:Prag1 UTSW 8 36,614,434 (GRCm39) missense probably benign 0.41
R6925:Prag1 UTSW 8 36,571,048 (GRCm39) missense probably damaging 1.00
R7085:Prag1 UTSW 8 36,571,391 (GRCm39) missense possibly damaging 0.71
R7095:Prag1 UTSW 8 36,569,714 (GRCm39) missense probably benign
R7204:Prag1 UTSW 8 36,613,915 (GRCm39) missense probably benign 0.03
R7213:Prag1 UTSW 8 36,613,769 (GRCm39) missense probably damaging 0.99
R7567:Prag1 UTSW 8 36,569,760 (GRCm39) missense possibly damaging 0.68
R7577:Prag1 UTSW 8 36,614,096 (GRCm39) missense probably damaging 1.00
R7783:Prag1 UTSW 8 36,570,409 (GRCm39) missense possibly damaging 0.66
R8146:Prag1 UTSW 8 36,571,364 (GRCm39) missense probably damaging 1.00
R8152:Prag1 UTSW 8 36,567,079 (GRCm39) missense possibly damaging 0.53
R8157:Prag1 UTSW 8 36,614,393 (GRCm39) missense probably damaging 0.99
R8332:Prag1 UTSW 8 36,613,457 (GRCm39) missense probably damaging 1.00
R8821:Prag1 UTSW 8 36,613,891 (GRCm39) missense probably benign
R8831:Prag1 UTSW 8 36,613,891 (GRCm39) missense probably benign
R8927:Prag1 UTSW 8 36,614,360 (GRCm39) missense probably damaging 1.00
R8928:Prag1 UTSW 8 36,614,360 (GRCm39) missense probably damaging 1.00
R8973:Prag1 UTSW 8 36,566,744 (GRCm39) start gained probably benign
R9516:Prag1 UTSW 8 36,607,208 (GRCm39) missense probably damaging 1.00
R9596:Prag1 UTSW 8 36,570,113 (GRCm39) missense probably damaging 1.00
R9598:Prag1 UTSW 8 36,571,069 (GRCm39) missense probably benign 0.20
Z1177:Prag1 UTSW 8 36,614,296 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGCCTGAACCCATCTAC -3'
(R):5'- AATGGCAGGCTTCTCTTTGG -3'

Sequencing Primer
(F):5'- TGAACCCATCTACGCCGAAAG -3'
(R):5'- GCCGTGTTTTCAGTCACATTATG -3'
Posted On 2015-07-06