Incidental Mutation 'R6127:Prag1'
ID 487450
Institutional Source Beutler Lab
Gene Symbol Prag1
Ensembl Gene ENSMUSG00000050271
Gene Name PEAK1 related kinase activating pseudokinase 1
Synonyms D8Ertd82e, NACK
MMRRC Submission 044274-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6127 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 36561982-36614941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36614555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1369 (L1369P)
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
AlphaFold Q571I4
Predicted Effect unknown
Transcript: ENSMUST00000110492
AA Change: L1369P
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: L1369P

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
Meta Mutation Damage Score 0.2150 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik A G 2: 154,391,509 (GRCm39) E92G probably damaging Het
4931429L15Rik T A 9: 46,220,220 (GRCm39) D104V probably damaging Het
Actl9 T C 17: 33,652,354 (GRCm39) V138A probably benign Het
Agl T A 3: 116,551,978 (GRCm39) I1204F probably damaging Het
Akna G T 4: 63,286,356 (GRCm39) T1381N possibly damaging Het
Atm A C 9: 53,435,809 (GRCm39) L167W probably damaging Het
Atp2b2 C T 6: 113,790,838 (GRCm39) E189K probably damaging Het
Bend7 A G 2: 4,768,088 (GRCm39) D348G probably damaging Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Carmil1 T C 13: 24,220,335 (GRCm39) T726A probably benign Het
Csmd3 T A 15: 47,513,624 (GRCm39) I2829F probably damaging Het
Ddx50 A T 10: 62,457,342 (GRCm39) probably null Het
Epha5 T G 5: 84,218,953 (GRCm39) K937N probably damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fuca1 T A 4: 135,662,122 (GRCm39) I350N probably damaging Het
Hagh G T 17: 25,079,978 (GRCm39) M152I probably damaging Het
Hexd T C 11: 121,107,825 (GRCm39) V185A possibly damaging Het
Ireb2 A G 9: 54,789,652 (GRCm39) T109A probably benign Het
Kcnh2 A G 5: 24,530,001 (GRCm39) Y702H probably damaging Het
Leng1 G A 7: 3,665,866 (GRCm39) P157L probably damaging Het
Maea C T 5: 33,492,862 (GRCm39) probably benign Het
Mertk G T 2: 128,580,211 (GRCm39) V222F probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Muc13 G A 16: 33,619,317 (GRCm39) A22T unknown Het
Muc16 T A 9: 18,569,174 (GRCm39) H1115L unknown Het
Or2y1d C A 11: 49,321,633 (GRCm39) T110K probably damaging Het
Or5ae2 T A 7: 84,506,410 (GRCm39) L278M probably damaging Het
Or5l13 T A 2: 87,779,705 (GRCm39) S291C probably damaging Het
Or6c69 A G 10: 129,747,284 (GRCm39) Y288H probably damaging Het
Pak5 G A 2: 135,929,326 (GRCm39) P619L probably damaging Het
Pcdh17 A G 14: 84,770,500 (GRCm39) K993E probably damaging Het
Pcdhga3 A T 18: 37,807,757 (GRCm39) Q70L probably damaging Het
Pcdhgb5 C A 18: 37,865,932 (GRCm39) R576S probably damaging Het
Pold1 T C 7: 44,191,545 (GRCm39) Y147C probably damaging Het
Psg29 T A 7: 16,945,671 (GRCm39) F414I probably benign Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rp1 C A 1: 4,419,534 (GRCm39) S526I possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setd7 G A 3: 51,437,502 (GRCm39) T251I probably damaging Het
Slc25a41 T A 17: 57,341,914 (GRCm39) Y145F probably damaging Het
Stag1 T C 9: 100,833,750 (GRCm39) V1121A probably benign Het
Svip T C 7: 51,653,201 (GRCm39) T38A probably benign Het
Tacc2 A T 7: 130,227,845 (GRCm39) H1510L possibly damaging Het
Trav19 A G 14: 54,082,999 (GRCm39) T25A probably benign Het
Trip4 A T 9: 65,773,752 (GRCm39) probably null Het
Tulp1 T A 17: 28,575,124 (GRCm39) H447L probably benign Het
Vmn1r200 A T 13: 22,579,373 (GRCm39) T59S probably benign Het
Vmn2r51 A T 7: 9,839,558 (GRCm39) L10H probably damaging Het
Wee2 T C 6: 40,426,701 (GRCm39) Y157H probably damaging Het
Xrn1 T C 9: 95,851,542 (GRCm39) S187P probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging 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
R4398:Prag1 UTSW 8 36,570,809 (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
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'- GGTACTGTGTAACACTCTGCAC -3'
(R):5'- GTACATAATCACAGGGGTGGCG -3'

Sequencing Primer
(F):5'- TGTGTAACACTCTGCACAACTGG -3'
(R):5'- CTGGCGTGTGTGAAATGACATCC -3'
Posted On 2017-10-10