Incidental Mutation 'R4600:Pakap'
ID 345499
Institutional Source Beutler Lab
Gene Symbol Pakap
Ensembl Gene ENSMUSG00000089945
Gene Name paralemmin A kinase anchor protein
Synonyms Palm2-Akap2, Akap2, AKAP-KL, Palm2Akap2, Gm20459, AF064781, B230340M18Rik, 53-H12, pEN70, Palm2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R4600 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57709954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 300 (T300S)
Ref Sequence ENSEMBL: ENSMUSP00000099969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098066] [ENSMUST00000102904] [ENSMUST00000102905] [ENSMUST00000126465] [ENSMUST00000142556]
AlphaFold no structure available at present
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: ENSMUST00000102904
AA Change: T300S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099968
Gene: ENSMUSG00000090053
AA Change: T300S

DomainStartEndE-ValueType
Pfam:Paralemmin 66 376 8e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102905
AA Change: T300S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099969
Gene: ENSMUSG00000090053
AA Change: T300S

DomainStartEndE-ValueType
Pfam:Paralemmin 67 376 5.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126465
SMART Domains Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131201
Predicted Effect probably benign
Transcript: ENSMUST00000142556
SMART Domains Protein: ENSMUSP00000129817
Gene: ENSMUSG00000090053

DomainStartEndE-ValueType
Pfam:Paralemmin 66 136 8.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150412
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,037 (GRCm39) F145L possibly damaging Het
Aars2 T A 17: 45,827,847 (GRCm39) D555E probably damaging Het
Ago1 C A 4: 126,354,185 (GRCm39) M208I probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Amfr A G 8: 94,700,849 (GRCm39) L537P probably damaging Het
Apob A G 12: 8,058,568 (GRCm39) D2317G probably damaging Het
Asb6 T A 2: 30,714,483 (GRCm39) D209V probably damaging Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Baz2a T A 10: 127,957,052 (GRCm39) C932S probably damaging Het
Btnl10 A G 11: 58,814,426 (GRCm39) I369V probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clic4 A T 4: 134,966,300 (GRCm39) probably null Het
Col6a3 A G 1: 90,709,626 (GRCm39) S1857P unknown Het
Cracr2a A C 6: 127,580,851 (GRCm39) D9A probably benign Het
Cspg4b A G 13: 113,455,783 (GRCm39) R610G possibly damaging Het
Dcst1 T C 3: 89,263,643 (GRCm39) E384G probably benign Het
Ddx4 T C 13: 112,748,594 (GRCm39) K435E probably damaging Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah3 T A 7: 119,689,169 (GRCm39) M82L probably benign Het
Dnhd1 G T 7: 105,352,851 (GRCm39) R2668L probably damaging Het
Efcab6 C T 15: 83,831,126 (GRCm39) G596D probably benign Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Fam181b C A 7: 92,729,992 (GRCm39) A255E possibly damaging Het
Fam83e T A 7: 45,372,924 (GRCm39) D178E probably benign Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gm16494 T A 17: 47,327,723 (GRCm39) K54* probably null Het
Golgb1 A G 16: 36,738,987 (GRCm39) D2442G probably damaging Het
Greb1l G A 18: 10,553,705 (GRCm39) A1569T probably damaging Het
Grik5 C G 7: 24,767,489 (GRCm39) E64Q probably damaging Het
Gstm5 A G 3: 107,805,302 (GRCm39) Y130C probably damaging Het
Gucy2e C G 11: 69,126,994 (GRCm39) A160P possibly damaging Het
Hydin A T 8: 111,293,582 (GRCm39) T3510S probably benign Het
Ift70a1 T C 2: 75,810,977 (GRCm39) T369A probably benign Het
Itgb2 A G 10: 77,381,949 (GRCm39) I84V probably benign Het
Itsn1 A G 16: 91,696,475 (GRCm39) Q26R probably damaging Het
Kat6a A G 8: 23,429,327 (GRCm39) S1561G probably benign Het
Khnyn G A 14: 56,124,438 (GRCm39) V231I probably benign Het
Kif21b A G 1: 136,075,602 (GRCm39) D243G probably benign Het
Klk4 T A 7: 43,534,762 (GRCm39) N240K probably damaging Het
Knl1 T C 2: 118,901,025 (GRCm39) S909P possibly damaging Het
Lamb1 A C 12: 31,373,528 (GRCm39) D1419A probably benign Het
Lin9 T A 1: 180,508,759 (GRCm39) V421D probably damaging Het
Lipt2 T C 7: 99,809,519 (GRCm39) L202P probably benign Het
Mbd5 T G 2: 49,147,209 (GRCm39) M473R probably benign Het
Mcc A T 18: 44,652,587 (GRCm39) I279N probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mylk2 G A 2: 152,759,476 (GRCm39) V389M probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nup160 T A 2: 90,515,541 (GRCm39) probably null Het
Nup88 G A 11: 70,860,522 (GRCm39) R62* probably null Het
Or2g7 T C 17: 38,378,853 (GRCm39) S264P probably damaging Het
Or51af1 T A 7: 103,141,788 (GRCm39) Q99L probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Or8g33 A G 9: 39,337,731 (GRCm39) M212T probably benign Het
Os9 T C 10: 126,934,223 (GRCm39) N471S probably benign Het
Otof C T 5: 30,529,244 (GRCm39) V1757M probably damaging Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pappa2 G A 1: 158,642,015 (GRCm39) S1347L probably damaging Het
Pccb T C 9: 100,916,832 (GRCm39) T27A probably benign Het
Pde4dip A T 3: 97,603,260 (GRCm39) V2243D probably damaging Het
Pkd2l2 C A 18: 34,571,254 (GRCm39) Q590K probably benign Het
Pmepa1 G A 2: 173,070,120 (GRCm39) P145L possibly damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Rnf133 T C 6: 23,649,041 (GRCm39) E296G possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Slc46a2 C T 4: 59,911,886 (GRCm39) C442Y probably damaging Het
Slc7a1 A G 5: 148,278,869 (GRCm39) L301P probably damaging Het
Spg21 A G 9: 65,383,257 (GRCm39) T148A probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Sult1c2 C A 17: 54,280,983 (GRCm39) W40L probably benign Het
Sytl2 T C 7: 90,024,977 (GRCm39) S322P probably benign Het
Telo2 C A 17: 25,324,122 (GRCm39) R531L possibly damaging Het
Thbs3 T C 3: 89,131,897 (GRCm39) V719A probably damaging Het
Tlr9 T A 9: 106,101,732 (GRCm39) L341Q probably damaging Het
Tmprss5 A G 9: 49,024,548 (GRCm39) N230D possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpo C T 12: 30,148,228 (GRCm39) V558M probably benign Het
Trex1 T G 9: 108,887,352 (GRCm39) Q213P possibly damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a6a A G 1: 88,066,586 (GRCm39) K131E probably benign Het
Vipr1 T A 9: 121,494,202 (GRCm39) probably null Het
Vmn1r22 T C 6: 57,877,860 (GRCm39) D39G probably damaging Het
Vmn2r58 A T 7: 41,522,046 (GRCm39) C17S probably benign Het
Vps41 T C 13: 18,929,453 (GRCm39) Y63H probably damaging Het
Xdh G T 17: 74,217,195 (GRCm39) T691N probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S probably damaging Het
Zfp536 T A 7: 37,267,918 (GRCm39) K499N probably damaging Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null Het
Other mutations in Pakap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pakap APN 4 57,757,627 (GRCm39) nonsense probably null
IGL01371:Pakap APN 4 57,856,325 (GRCm39) missense probably benign 0.03
IGL01647:Pakap APN 4 57,688,477 (GRCm39) missense possibly damaging 0.82
IGL01733:Pakap APN 4 57,856,488 (GRCm39) missense probably benign 0.01
IGL02677:Pakap APN 4 57,856,263 (GRCm39) missense probably benign 0.01
IGL02696:Pakap APN 4 57,854,663 (GRCm39) missense probably damaging 0.97
IGL02736:Pakap APN 4 57,709,721 (GRCm39) missense probably damaging 0.96
IGL03067:Pakap APN 4 57,648,038 (GRCm39) missense probably benign 0.02
IGL03343:Pakap APN 4 57,688,502 (GRCm39) missense probably damaging 1.00
A9681:Pakap UTSW 4 57,855,358 (GRCm39) missense probably damaging 1.00
IGL02835:Pakap UTSW 4 57,883,044 (GRCm39) missense probably damaging 1.00
PIT4305001:Pakap UTSW 4 57,638,029 (GRCm39) missense possibly damaging 0.94
R0158:Pakap UTSW 4 57,709,649 (GRCm39) missense possibly damaging 0.96
R0244:Pakap UTSW 4 57,710,177 (GRCm39) missense possibly damaging 0.74
R0284:Pakap UTSW 4 57,855,207 (GRCm39) missense probably damaging 1.00
R0356:Pakap UTSW 4 57,855,628 (GRCm39) missense possibly damaging 0.48
R0594:Pakap UTSW 4 57,856,752 (GRCm39) missense probably benign 0.00
R0614:Pakap UTSW 4 57,856,720 (GRCm39) missense probably benign 0.41
R0617:Pakap UTSW 4 57,829,434 (GRCm39) intron probably benign
R0763:Pakap UTSW 4 57,688,441 (GRCm39) missense probably damaging 1.00
R0800:Pakap UTSW 4 57,709,650 (GRCm39) missense probably benign 0.06
R1228:Pakap UTSW 4 57,856,909 (GRCm39) missense probably damaging 1.00
R1861:Pakap UTSW 4 57,709,468 (GRCm39) missense probably damaging 0.97
R1895:Pakap UTSW 4 57,638,068 (GRCm39) missense probably benign 0.01
R1913:Pakap UTSW 4 57,892,963 (GRCm39) missense probably damaging 1.00
R2081:Pakap UTSW 4 57,855,927 (GRCm39) missense possibly damaging 0.49
R2128:Pakap UTSW 4 57,854,890 (GRCm39) missense probably benign 0.40
R2339:Pakap UTSW 4 57,883,180 (GRCm39) missense probably damaging 1.00
R4667:Pakap UTSW 4 57,855,655 (GRCm39) missense possibly damaging 0.80
R4804:Pakap UTSW 4 57,854,688 (GRCm39) missense probably benign 0.05
R4989:Pakap UTSW 4 57,856,552 (GRCm39) missense probably benign
R5135:Pakap UTSW 4 57,855,912 (GRCm39) missense probably benign 0.00
R5292:Pakap UTSW 4 57,855,356 (GRCm39) missense probably damaging 0.98
R5420:Pakap UTSW 4 57,856,434 (GRCm39) missense probably damaging 1.00
R5420:Pakap UTSW 4 57,856,062 (GRCm39) missense probably benign 0.08
R5442:Pakap UTSW 4 57,637,876 (GRCm39) missense probably null
R5517:Pakap UTSW 4 57,855,987 (GRCm39) missense probably damaging 0.99
R5648:Pakap UTSW 4 57,854,848 (GRCm39) missense probably damaging 1.00
R5886:Pakap UTSW 4 57,856,295 (GRCm39) missense probably damaging 1.00
R5993:Pakap UTSW 4 57,855,273 (GRCm39) missense possibly damaging 0.86
R6133:Pakap UTSW 4 57,855,516 (GRCm39) nonsense probably null
R6189:Pakap UTSW 4 57,855,928 (GRCm39) missense probably benign 0.00
R6221:Pakap UTSW 4 57,855,618 (GRCm39) nonsense probably null
R6320:Pakap UTSW 4 57,710,173 (GRCm39) missense probably damaging 1.00
R6365:Pakap UTSW 4 57,709,675 (GRCm39) nonsense probably null
R6532:Pakap UTSW 4 57,855,174 (GRCm39) missense probably benign 0.00
R6760:Pakap UTSW 4 57,856,026 (GRCm39) missense probably damaging 1.00
R6792:Pakap UTSW 4 57,855,880 (GRCm39) missense possibly damaging 0.90
R6983:Pakap UTSW 4 57,709,973 (GRCm39) missense probably damaging 1.00
R7090:Pakap UTSW 4 57,648,042 (GRCm39) missense probably benign 0.00
R7128:Pakap UTSW 4 57,855,816 (GRCm39) missense probably benign 0.03
R7269:Pakap UTSW 4 57,855,217 (GRCm39) missense probably damaging 1.00
R7726:Pakap UTSW 4 57,709,876 (GRCm39) missense probably damaging 1.00
R7744:Pakap UTSW 4 57,709,519 (GRCm39) missense probably damaging 0.97
R7837:Pakap UTSW 4 57,855,262 (GRCm39) missense probably damaging 1.00
R7940:Pakap UTSW 4 57,883,026 (GRCm39) missense probably damaging 0.98
R7946:Pakap UTSW 4 57,710,045 (GRCm39) missense probably damaging 1.00
R8094:Pakap UTSW 4 57,886,319 (GRCm39) missense possibly damaging 0.81
R8275:Pakap UTSW 4 57,886,329 (GRCm39) critical splice donor site probably null
R8702:Pakap UTSW 4 57,709,489 (GRCm39) nonsense probably null
R8836:Pakap UTSW 4 57,709,916 (GRCm39) missense probably benign 0.01
R9010:Pakap UTSW 4 57,883,192 (GRCm39) missense probably damaging 1.00
R9016:Pakap UTSW 4 57,637,857 (GRCm39) missense unknown
R9060:Pakap UTSW 4 57,855,412 (GRCm39) missense probably damaging 1.00
R9215:Pakap UTSW 4 57,709,595 (GRCm39) missense probably damaging 0.97
R9652:Pakap UTSW 4 57,710,125 (GRCm39) missense possibly damaging 0.51
X0065:Pakap UTSW 4 57,709,805 (GRCm39) missense probably benign
Z1177:Pakap UTSW 4 57,856,348 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACATGCTCTGCAAAGAGGC -3'
(R):5'- GTCACATGACAACACAGCATTG -3'

Sequencing Primer
(F):5'- CTCTGCAAAGAGGCCAAGTTAG -3'
(R):5'- ACAGCATTGACAGCGCTTTTTC -3'
Posted On 2015-09-25