Incidental Mutation 'R7837:Pakap'
ID 606035
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
MMRRC Submission 045891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7837 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 57434475-57896984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57855262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 197 (D197G)
Ref Sequence ENSEMBL: ENSMUSP00000099967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107598] [ENSMUST00000107600] [ENSMUST00000124581] [ENSMUST00000126465] [ENSMUST00000132497]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043456
AA Change: D197G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: D197G

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 damaging
Transcript: ENSMUST00000098064
AA Change: D197G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: D197G

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: ENSMUST00000098066
SMART Domains Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945

DomainStartEndE-ValueType
Pfam:Paralemmin 67 138 6.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102902
AA Change: D197G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: D197G

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 damaging
Transcript: ENSMUST00000102903
AA Change: D197G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: D197G

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 damaging
Transcript: ENSMUST00000107598
AA Change: D197G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: D197G

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 damaging
Transcript: ENSMUST00000107600
AA Change: D238G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: D238G

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
SMART Domains Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: D440G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,547 (GRCm39) S108P probably damaging Het
Acox3 A G 5: 35,768,830 (GRCm39) probably null Het
Adam22 T A 5: 8,199,284 (GRCm39) probably null Het
Adgrb3 T C 1: 25,167,915 (GRCm39) Y1007C probably damaging Het
Anapc4 T A 5: 53,016,550 (GRCm39) probably null Het
Aoc1 T A 6: 48,882,584 (GRCm39) Y153* probably null Het
Armc1 A T 3: 19,198,633 (GRCm39) I109N probably benign Het
Bcl2 A C 1: 106,471,086 (GRCm39) F207V possibly damaging Het
Btd C A 14: 31,388,784 (GRCm39) S168R possibly damaging Het
Cage1 A T 13: 38,206,381 (GRCm39) M488K not run Het
Cemip2 T A 19: 21,775,385 (GRCm39) D209E probably benign Het
Cenpj T C 14: 56,796,185 (GRCm39) N224S probably benign Het
Cln6 T C 9: 62,756,330 (GRCm39) V81A Het
Crispld1 T A 1: 17,798,954 (GRCm39) V25E probably benign Het
Dnah12 A G 14: 26,518,176 (GRCm39) T1808A probably benign Het
Dnm3 C T 1: 161,819,619 (GRCm39) R851H possibly damaging Het
Dtx3l T A 16: 35,751,896 (GRCm39) N675I probably damaging Het
Dusp28 A G 1: 92,835,405 (GRCm39) E163G probably benign Het
Ecd A T 14: 20,383,400 (GRCm39) F346L probably damaging Het
F5 G A 1: 164,014,363 (GRCm39) V545M probably damaging Het
Gm19410 A T 8: 36,276,134 (GRCm39) Y1597F possibly damaging Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gria2 A T 3: 80,618,095 (GRCm39) N313K probably benign Het
Igkv13-84 C T 6: 68,916,793 (GRCm39) S30F possibly damaging Het
Kcnh6 C A 11: 105,924,636 (GRCm39) H867N probably benign Het
Krt82 T C 15: 101,456,792 (GRCm39) Q196R possibly damaging Het
Mbd4 T C 6: 115,826,500 (GRCm39) N164D probably benign Het
Mrgpra1 A T 7: 46,985,076 (GRCm39) M201K possibly damaging Het
Msh6 G A 17: 88,292,094 (GRCm39) G283E probably damaging Het
Msr1 C T 8: 40,034,873 (GRCm39) C426Y probably damaging Het
Muc5ac A G 7: 141,369,700 (GRCm39) H3149R possibly damaging Het
Nr1i2 T C 16: 38,074,146 (GRCm39) M156V probably benign Het
Ogdhl T C 14: 32,068,415 (GRCm39) V884A possibly damaging Het
Or13a21 T C 7: 139,999,234 (GRCm39) I151V probably benign Het
Or4c102 A T 2: 88,422,723 (GRCm39) I192F possibly damaging Het
Or4k15b T A 14: 50,272,033 (GRCm39) T276S probably damaging Het
Or51ag1 A T 7: 103,156,052 (GRCm39) C34S possibly damaging Het
Pcnx4 C A 12: 72,602,892 (GRCm39) L385M probably damaging Het
Pgap4 A T 4: 49,586,262 (GRCm39) M302K probably damaging Het
Plscr4 T A 9: 92,366,976 (GRCm39) C197S probably damaging Het
Rin3 A G 12: 102,335,024 (GRCm39) T312A unknown Het
Septin7 T A 9: 25,199,531 (GRCm39) N143K possibly damaging Het
Sgk2 A G 2: 162,845,216 (GRCm39) K208E probably damaging Het
Slc4a5 A T 6: 83,238,539 (GRCm39) T236S probably benign Het
Sptbn1 A G 11: 30,088,832 (GRCm39) L810P probably damaging Het
Stard9 A G 2: 120,534,146 (GRCm39) S3468G probably benign Het
Tarbp1 T C 8: 127,201,300 (GRCm39) S169G probably benign Het
Tex56 A T 13: 35,128,359 (GRCm39) Q192L possibly damaging Het
Tssk2 T C 16: 17,716,615 (GRCm39) V6A possibly damaging Het
Ttll4 A T 1: 74,720,916 (GRCm39) probably null Het
Ubr4 C T 4: 139,120,462 (GRCm39) R296* probably null Het
Wscd2 G T 5: 113,710,394 (GRCm39) C306F probably damaging Het
Zbtb43 C T 2: 33,343,981 (GRCm39) G378R probably damaging Het
Zdhhc12 A T 2: 29,981,709 (GRCm39) V165E probably damaging Het
Zfp59 GAAA GAAAAA 7: 27,554,342 (GRCm39) probably null Het
Zfp943 A T 17: 22,211,346 (GRCm39) Y144F probably benign Het
Zkscan8 T A 13: 21,704,598 (GRCm39) N447I possibly damaging 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
R4600:Pakap UTSW 4 57,709,954 (GRCm39) missense probably benign 0.26
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 57,856,062 (GRCm39) missense probably benign 0.08
R5420:Pakap UTSW 4 57,856,434 (GRCm39) missense probably damaging 1.00
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
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'- TCACATCGAGCTCAGTAGAAGC -3'
(R):5'- GTCCAGCTGCTCCTCAATAG -3'

Sequencing Primer
(F):5'- GAGCTCAGTAGAAGCCCCTC -3'
(R):5'- CCTCAATAGTTTTCTCCTGGGG -3'
Posted On 2019-12-20