Incidental Mutation 'R6277:Prag1'
ID 507714
Institutional Source Beutler Lab
Gene Symbol Prag1
Ensembl Gene ENSMUSG00000050271
Gene Name PEAK1 related kinase activating pseudokinase 1
Synonyms D8Ertd82e, NACK
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6277 (G1)
Quality Score 216.009
Status Validated
Chromosome 8
Chromosomal Location 36561982-36614941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36613745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1099 (R1099L)
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
AlphaFold Q571I4
Predicted Effect probably damaging
Transcript: ENSMUST00000110492
AA Change: R1099L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: R1099L

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 0.4198 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,651 (GRCm39) Y105H possibly damaging Het
4921539E11Rik A T 4: 103,088,668 (GRCm39) Y179* probably null Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adcy5 A G 16: 35,109,896 (GRCm39) T823A probably benign Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Padi3 A T 4: 140,518,472 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Ppfibp1 T A 6: 146,907,422 (GRCm39) D228E probably benign Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R 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
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
R6127:Prag1 UTSW 8 36,614,555 (GRCm39) missense unknown
R6240:Prag1 UTSW 8 36,570,506 (GRCm39) missense probably benign 0.03
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'- AAGACTGCGGCCACTTTGTG -3'
(R):5'- CCTTCAGGAAGTTGCTGATGATG -3'

Sequencing Primer
(F):5'- GTGCCCTCCAGCATGCTTG -3'
(R):5'- CTGATGATGAGCCTGGGCAG -3'
Posted On 2018-03-15