Incidental Mutation 'R8672:Gkap1'
ID 661223
Institutional Source Beutler Lab
Gene Symbol Gkap1
Ensembl Gene ENSMUSG00000021552
Gene Name G kinase anchoring protein 1
Synonyms 4933400B15Rik, 42kDa, D13Ertd340e, Gkap42
MMRRC Submission 068527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 58381160-58422691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58391662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 231 (T231I)
Ref Sequence ENSEMBL: ENSMUSP00000089169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091579] [ENSMUST00000225098]
AlphaFold Q9JMB0
Predicted Effect probably damaging
Transcript: ENSMUST00000091579
AA Change: T231I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089169
Gene: ENSMUSG00000021552
AA Change: T231I

DomainStartEndE-ValueType
coiled coil region 47 80 N/A INTRINSIC
coiled coil region 128 157 N/A INTRINSIC
coiled coil region 243 299 N/A INTRINSIC
coiled coil region 321 352 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000225098
AA Change: T35I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Aadat A T 8: 60,959,179 (GRCm39) probably benign Het
Amigo3 A G 9: 107,931,375 (GRCm39) H266R possibly damaging Het
Amy2a1 A T 3: 113,323,146 (GRCm39) M214K probably damaging Het
Atp11b A T 3: 35,874,066 (GRCm39) D685V probably benign Het
Aunip T A 4: 134,250,460 (GRCm39) M135K probably benign Het
Brd10 T C 19: 29,731,564 (GRCm39) T483A probably benign Het
Card9 T C 2: 26,247,950 (GRCm39) T134A probably benign Het
Cd46 G A 1: 194,764,949 (GRCm39) T216I probably benign Het
Chit1 T C 1: 134,079,005 (GRCm39) V360A unknown Het
Crcp A G 5: 130,071,077 (GRCm39) R59G probably benign Het
Csmd1 T A 8: 15,976,598 (GRCm39) E2873D probably benign Het
Cyp8b1 T A 9: 121,743,986 (GRCm39) M449L probably benign Het
Dpp7 T C 2: 25,246,133 (GRCm39) D40G probably benign Het
Eif4g3 T A 4: 137,853,823 (GRCm39) L463Q possibly damaging Het
Fzd9 T C 5: 135,278,524 (GRCm39) I454V probably benign Het
Gbp11 T A 5: 105,491,675 (GRCm39) I41F probably damaging Het
Heatr5b A G 17: 79,069,632 (GRCm39) L1705P probably damaging Het
Herc3 T A 6: 58,850,786 (GRCm39) F467I probably damaging Het
Ifih1 T C 2: 62,435,993 (GRCm39) E699G possibly damaging Het
Ints5 T A 19: 8,873,370 (GRCm39) L443Q probably damaging Het
Itpr2 A T 6: 146,276,016 (GRCm39) C764S probably damaging Het
Kcnma1 A T 14: 23,551,230 (GRCm39) I519N probably damaging Het
Krtap4-1 C T 11: 99,518,890 (GRCm39) C40Y unknown Het
Mdn1 A G 4: 32,768,793 (GRCm39) D5384G probably damaging Het
Mpl T C 4: 118,306,110 (GRCm39) Y310C probably damaging Het
Mucl1 A G 15: 103,784,063 (GRCm39) S48P possibly damaging Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Nemp1 T C 10: 127,512,988 (GRCm39) S8P probably benign Het
Nisch A G 14: 30,895,093 (GRCm39) C1068R probably damaging Het
Npr3 T C 15: 11,851,579 (GRCm39) N404D probably damaging Het
Nwd1 C G 8: 73,394,007 (GRCm39) H423Q probably damaging Het
Or5a1 C T 19: 12,097,921 (GRCm39) V52M probably benign Het
Or6c66b T A 10: 129,376,596 (GRCm39) N63K probably damaging Het
Or8j3c T A 2: 86,253,976 (GRCm39) M15L probably benign Het
Pcdh9 T C 14: 94,124,529 (GRCm39) N547S probably benign Het
Pdha2 C A 3: 140,917,124 (GRCm39) R128L probably damaging Het
Pebp1 A G 5: 117,421,336 (GRCm39) Y181H probably benign Het
Peg3 T G 7: 6,711,523 (GRCm39) D1233A possibly damaging Het
Pepd C A 7: 34,642,107 (GRCm39) T146N probably damaging Het
Ptk2b A T 14: 66,393,841 (GRCm39) D877E probably benign Het
Rabgap1l A C 1: 160,270,846 (GRCm39) M647R probably damaging Het
Rp1 A G 1: 4,419,007 (GRCm39) S702P possibly damaging Het
Shb A T 4: 45,489,161 (GRCm39) D238E probably damaging Het
Slc36a1 T A 11: 55,123,334 (GRCm39) V433D possibly damaging Het
Spata31h1 A T 10: 82,127,726 (GRCm39) N1761K probably benign Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Tcerg1 A T 18: 42,686,559 (GRCm39) K705N probably damaging Het
Thbs1 C A 2: 117,943,719 (GRCm39) N112K probably benign Het
Zfp658 T C 7: 43,222,919 (GRCm39) I398T possibly damaging Het
Other mutations in Gkap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Gkap1 APN 13 58,384,853 (GRCm39) missense probably damaging 1.00
IGL01556:Gkap1 APN 13 58,411,106 (GRCm39) missense probably benign 0.10
IGL03134:Gkap1 APN 13 58,411,746 (GRCm39) unclassified probably benign
R1263:Gkap1 UTSW 13 58,403,587 (GRCm39) missense probably benign 0.03
R1750:Gkap1 UTSW 13 58,384,857 (GRCm39) nonsense probably null
R4672:Gkap1 UTSW 13 58,411,770 (GRCm39) missense possibly damaging 0.70
R5165:Gkap1 UTSW 13 58,411,010 (GRCm39) critical splice donor site probably null
R7639:Gkap1 UTSW 13 58,411,784 (GRCm39) missense probably damaging 0.99
R7721:Gkap1 UTSW 13 58,384,799 (GRCm39) critical splice donor site probably null
R7775:Gkap1 UTSW 13 58,398,966 (GRCm39) missense probably benign 0.09
R8519:Gkap1 UTSW 13 58,386,506 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAGGAGCTCCCTTCTTTC -3'
(R):5'- CCTAGTGACTCTCGAGGTTTAGTG -3'

Sequencing Primer
(F):5'- CAGTACATGTGTGCTCCATATTTG -3'
(R):5'- ACTCTCGAGGTTTAGTGAATGTG -3'
Posted On 2021-03-08