Incidental Mutation 'IGL01322:Prag1'
ID 74070
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01322
Quality Score
Status
Chromosome 8
Chromosomal Location 36561982-36614941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36571088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 557 (V557A)
Ref Sequence ENSEMBL: ENSMUSP00000106118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110492]
AlphaFold Q571I4
Predicted Effect probably benign
Transcript: ENSMUST00000110492
AA Change: V557A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: V557A

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T 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
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
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
Posted On 2013-10-07