Incidental Mutation 'IGL01371:Pakap'
ID76134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pakap
Ensembl Gene ENSMUSG00000089945
Gene Nameparalemmin A kinase anchor protein
SynonymsPalm2Akap2, AF064781, Palm2-Akap2, Gm20459
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01371
Quality Score
Status
Chromosome4
Chromosomal Location57568179-57896982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 57856325 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 551 (D551E)
Ref Sequence ENSEMBL: ENSMUSP00000103224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107598] [ENSMUST00000107600] [ENSMUST00000124581] [ENSMUST00000126465] [ENSMUST00000132497]
Predicted Effect probably benign
Transcript: ENSMUST00000043456
AA Change: D551E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: D551E

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 568 885 2.5e-17 PFAM
Pfam:RII_binding_1 585 602 1.6e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098064
AA Change: D551E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: D551E

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 569 872 4e-13 PFAM
Pfam:RII_binding_1 585 602 2.9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098065
Predicted Effect probably benign
Transcript: ENSMUST00000098066
SMART Domains Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102902
AA Change: D551E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: D551E

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:RII_binding_1 585 602 3.5e-5 PFAM
coiled coil region 730 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102903
AA Change: D551E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: D551E

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:RII_binding_1 585 602 3.5e-5 PFAM
coiled coil region 730 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107598
AA Change: D551E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: D551E

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
coiled coil region 256 314 N/A INTRINSIC
Pfam:AKAP2_C 569 872 4e-13 PFAM
Pfam:RII_binding_1 585 602 2.9e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107600
AA Change: D592E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: D592E

DomainStartEndE-ValueType
low complexity region 193 204 N/A INTRINSIC
low complexity region 254 268 N/A INTRINSIC
coiled coil region 297 355 N/A INTRINSIC
Pfam:AKAP2_C 636 913 2.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124581
SMART Domains Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126465
SMART Domains Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132497
Predicted Effect unknown
Transcript: ENSMUST00000150412
AA Change: D794E
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: D794E

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
low complexity region 35 59 N/A INTRINSIC
Pfam:Paralemmin 115 269 6.5e-23 PFAM
low complexity region 396 407 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
coiled coil region 499 557 N/A INTRINSIC
Pfam:AKAP2_C 847 1129 1.9e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T C 9: 103,254,776 E504G possibly damaging Het
Abcc9 C T 6: 142,656,614 R691Q probably benign Het
AI314180 A G 4: 58,809,718 L1583P probably damaging Het
Ambra1 G T 2: 91,825,286 G700W probably damaging Het
Atp6v1c1 A G 15: 38,682,960 I198V probably benign Het
Bptf T C 11: 107,055,907 N2353S probably benign Het
Cd84 A T 1: 171,886,370 T312S probably benign Het
Chl1 G T 6: 103,715,364 C1064F probably damaging Het
Clca4a T C 3: 144,960,672 D473G probably damaging Het
Dsp A G 13: 38,193,617 R1793G probably benign Het
Dync1h1 A G 12: 110,638,851 N2374S probably benign Het
Gm43191 A T 3: 116,645,463 I130N probably damaging Het
Gm5134 T G 10: 76,004,747 L475R probably damaging Het
Grm1 A G 10: 10,720,039 V615A probably benign Het
Loxl1 T A 9: 58,294,422 Q462L possibly damaging Het
Nwd1 T C 8: 72,675,115 W755R probably damaging Het
Olfr1102 A T 2: 87,002,923 K318M probably benign Het
Olfr1408 A G 1: 173,130,531 S229P possibly damaging Het
Olfr1459 G A 19: 13,145,828 T277I possibly damaging Het
Otud4 T C 8: 79,673,761 F1034L probably damaging Het
Panx3 T G 9: 37,661,475 T260P probably benign Het
Ppfia4 A T 1: 134,328,086 S194T probably benign Het
Rnf135 T A 11: 80,189,255 I124N probably benign Het
Rpf1 T C 3: 146,507,547 N283S probably damaging Het
Smg5 A G 3: 88,359,644 probably benign Het
Stard9 A G 2: 120,701,368 E2702G probably benign Het
Tbk1 A T 10: 121,559,871 M439K probably benign Het
Tmem235 T C 11: 117,862,306 L85P possibly damaging Het
Trhde A T 10: 114,588,500 V460E possibly damaging Het
Ttn T C 2: 76,790,264 probably benign Het
Vmn1r83 A G 7: 12,321,233 F299S probably benign Het
Other mutations in Pakap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pakap APN 4 57757627 nonsense probably null
IGL01647:Pakap APN 4 57688477 missense possibly damaging 0.82
IGL01733:Pakap APN 4 57856488 missense probably benign 0.01
IGL02677:Pakap APN 4 57856263 missense probably benign 0.01
IGL02696:Pakap APN 4 57854663 missense probably damaging 0.97
IGL03067:Pakap APN 4 57648038 missense probably benign 0.02
IGL03343:Pakap APN 4 57688502 missense probably damaging 1.00
R1913:Pakap UTSW 4 57892963 missense probably damaging 1.00
R2339:Pakap UTSW 4 57883180 missense probably damaging 1.00
R5442:Pakap UTSW 4 57637876 missense probably null
Posted On2013-10-07