Incidental Mutation 'FR4340:Prag1'
ID 511139
Institutional Source Beutler Lab
Gene Symbol Prag1
Ensembl Gene ENSMUSG00000050271
Gene Name PEAK1 related kinase activating pseudokinase 1
Synonyms D8Ertd82e, NACK
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # FR4340 ()
Quality Score 214.458
Status Not validated
Chromosome 8
Chromosomal Location 36561982-36614941 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) C to CAGT at 36571040 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
AlphaFold Q571I4
Predicted Effect probably benign
Transcript: ENSMUST00000110492
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271

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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 94.3%
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
4930578G10Rik G T 4: 42,761,098 (GRCm39) probably benign Het
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
A530064D06Rik GTAGGAAGCTTAG GTAG 17: 48,470,549 (GRCm39) probably benign Homo
Arpc1b CC CCTGGTC 5: 145,063,602 (GRCm39) probably null Het
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
Bcas3 G A 11: 85,400,323 (GRCm39) V431I probably benign Homo
Blm ACCT ACCTGCCT 7: 80,113,515 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,658 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,655 (GRCm39) probably benign Het
Bltp1 TATTATTAT TATTATTATTATTATCATTATTAT 3: 37,104,901 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1f AGG AGGCGG X: 7,486,306 (GRCm39) probably benign Het
Calhm1 CTCTGTGGCTGTGGCTGTGGCTGTG CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG 19: 47,129,690 (GRCm39) probably benign Het
Casz1 ACCACAGCCACAGCCACAGCCAC ACCACAGCCACAGCCAC 4: 149,036,759 (GRCm39) probably benign Homo
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Cd80 GAA GAAAAA 16: 38,306,678 (GRCm39) probably benign Homo
Cimip2b CAGAG CAG 4: 43,427,384 (GRCm39) probably null Homo
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Crygc A T 1: 65,110,822 (GRCm39) F155Y probably benign Het
Cul9 TCC TCCCCC 17: 46,811,779 (GRCm39) probably benign Het
Cyp2d11 T TGGGA 15: 82,274,223 (GRCm39) probably null Homo
Dbr1 AGG AGGAGGCGG 9: 99,465,754 (GRCm39) probably benign Het
Dennd10 CT CTTTT 19: 60,803,059 (GRCm39) probably benign Homo
Dennd2b CACCACACTGGGGCAGCCCACACTGGGGCAG CCCCACACTGGGGCAG 7: 109,156,128 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dnah8 ACACTGCC AC 17: 30,854,437 (GRCm39) probably benign Het
Dthd1 C CTTA 5: 63,000,369 (GRCm39) probably benign Homo
Frem3 CT CTTTT 8: 81,341,870 (GRCm39) probably benign Homo
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
G530012D18Rik CACACAGAGAGAGAGAGAGAGAGAGA CA 1: 85,504,873 (GRCm39) probably benign Het
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gm16519 A AGAAC 17: 71,236,333 (GRCm39) probably null Homo
Gm4340 GCAG GCAACAG 10: 104,031,959 (GRCm39) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,960 (GRCm39) probably benign Het
Gm4340 CAG CAGTAG 10: 104,031,936 (GRCm39) probably null Het
Gpatch11 AGGAAG AGGAAGGGGAAG 17: 79,149,603 (GRCm39) probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
Ifi208 ATGGTG ATG 1: 173,505,264 (GRCm39) probably benign Homo
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Ipo9 TCC TCCCCC 1: 135,314,007 (GRCm39) probably benign Het
Ipo9 CTC CTCTTC 1: 135,314,009 (GRCm39) probably benign Het
Isg20l2 AAG AAGTAG 3: 87,839,019 (GRCm39) probably null Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,800 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,788 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Krt10 CCTCCT CCTCCTTCTCCT 11: 99,280,100 (GRCm39) probably benign Het
Krt10 CAC CACGAC 11: 99,277,028 (GRCm39) probably benign Het
Krt10 ACCG ACCGCCG 11: 99,277,029 (GRCm39) probably benign Homo
Las1l TCCTC TCCTCTACCTC X: 94,984,228 (GRCm39) probably benign Het
Lce1a1 C T 3: 92,554,151 (GRCm39) G108S unknown Het
Lkaaear1 CCAGCTCCAG CCAGCTCCAGCTGCAGCTCCAG 2: 181,339,387 (GRCm39) probably benign Het
Lrit3 CTG CTGTTG 3: 129,582,457 (GRCm39) probably benign Het
Mamld1 CAG CAGAAG X: 70,162,452 (GRCm39) probably benign Het
Mapk7 TGCTGGCGCTGGTGCTGGCGCTGG TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG 11: 61,381,032 (GRCm39) probably benign Het
Mast4 GCA GCAGTGTCA 13: 102,872,825 (GRCm39) probably benign Homo
Mast4 TTTT TTTTATTT 13: 102,871,365 (GRCm39) probably null Het
Med12l AGC AGCCGC 3: 59,183,406 (GRCm39) probably benign Het
Mfsd5 G A 15: 102,189,596 (GRCm39) V323I probably benign Het
Nacad GTC GTCAGGATC 11: 6,549,761 (GRCm39) probably benign Het
Naip1 A C 13: 100,559,584 (GRCm39) M1140R probably benign Het
Nbea TTTA T 3: 55,916,633 (GRCm39) probably benign Homo
Nefh CTCACCTGGGGACTTGGCCTC CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,040 (GRCm39) probably benign Homo
Nefh ACTTGGCCTCACCTGGGG ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG 11: 4,891,033 (GRCm39) probably benign Het
Nefh GCCTCACCTGGGGACTTGGCCTC GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,038 (GRCm39) probably benign Homo
Neu1 TCTTCTA T 17: 35,151,534 (GRCm39) probably benign Het
Nutf2 G T 8: 106,603,202 (GRCm39) D78Y probably damaging Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or5e1 AT ATGATATT 7: 108,354,161 (GRCm39) probably benign Homo
Or5p70 A G 7: 107,995,100 (GRCm39) T258A probably benign Het
Or5p70 G A 7: 107,995,105 (GRCm39) M259I probably benign Het
Pdik1l ACCAC ACCACCCCCAC 4: 134,006,823 (GRCm39) probably benign Het
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Pik3c2g AG AGAGGG 6: 139,612,654 (GRCm39) probably null Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,468,290 (GRCm39) probably benign Homo
Pramel16 G A 4: 143,676,312 (GRCm39) T264M probably damaging Het
Prkn G A 17: 12,073,650 (GRCm39) V323M probably damaging Homo
Raet1d A G 10: 22,247,458 (GRCm39) Q178R probably benign Het
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Serpina3i CGG CGGTGG 12: 104,231,423 (GRCm39) probably benign Het
Sfswap ACTCAGCCC ACTCAGCCCCCTCAGCCC 5: 129,646,815 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,784 (GRCm39) probably benign Het
Sp140l1 A C 1: 85,087,072 (GRCm39) N6K probably damaging Het
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry GCTGCTGCTGCTG GCTGCTGCTGCTGCTG Y: 2,662,824 (GRCm39) probably benign Het
Tbr1 A C 2: 61,636,691 (GRCm39) probably benign Het
Tdpoz2 T TCC 3: 93,558,922 (GRCm39) probably null Homo
Tdpoz4 GAA GA 3: 93,704,187 (GRCm39) probably null Het
Tgoln1 AAG AAGCCTCAG 6: 72,593,334 (GRCm39) probably benign Homo
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Het
Tob1 CA CAGAA 11: 94,105,303 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,280 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,286 (GRCm39) probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 (GRCm39) probably benign Het
Triobp TCGG TCGGCGG 15: 78,877,590 (GRCm39) probably benign Homo
Tsbp1 GC GCAAC 17: 34,679,051 (GRCm39) probably benign Het
Tsbp1 CAG CAGTAG 17: 34,679,034 (GRCm39) probably null Het
Tsbp1 GCA GCATCA 17: 34,679,042 (GRCm39) probably benign Het
Tsen2 AGG AGGGGG 6: 115,537,027 (GRCm39) probably benign Homo
Tsen2 AGG AGGGGG 6: 115,537,030 (GRCm39) probably benign Homo
Ubtf TCC TCCCCC 11: 102,197,776 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zc3h13 CGGGATGTGCG CGGGATGTGCGGGATGTGCG 14: 75,561,032 (GRCm39) probably benign Homo
Zfp28 G A 7: 6,397,862 (GRCm39) G766R probably damaging Het
Zfp384 AAGCCCAGGCCCAGGCCCAGGCCCA AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA 6: 125,013,426 (GRCm39) probably benign Het
Zfp428 G A 7: 24,214,506 (GRCm39) D41N probably damaging Homo
Zfp598 CCACAGGC CC 17: 24,898,346 (GRCm39) probably benign Het
Zfp598 CCACCA CCACCAACACCA 17: 24,899,757 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,273 (GRCm39) probably benign Het
Zfp933 GCTT GCTTTTCTT 4: 147,910,186 (GRCm39) probably null Homo
Zfp936 G A 7: 42,838,913 (GRCm39) G127R possibly 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
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
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'- TATTTATCTGAGCAGCCCTGAC -3'
(R):5'- CCTCTGGTCCAAGACTGAAGAG -3'

Sequencing Primer
(F):5'- AGCCCTGACTCTGCCGTG -3'
(R):5'- TCCAAGACTGAAGAGGAGGTG -3'
Posted On 2018-04-05