Incidental Mutation 'R9329:Camk1d'
ID 706703
Institutional Source Beutler Lab
Gene Symbol Camk1d
Ensembl Gene ENSMUSG00000039145
Gene Name calcium/calmodulin-dependent protein kinase ID
Synonyms E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9329 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5298268-5719326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5449954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 76 (I76V)
Ref Sequence ENSEMBL: ENSMUSP00000037028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044009] [ENSMUST00000114987]
AlphaFold Q8BW96
Predicted Effect probably benign
Transcript: ENSMUST00000044009
AA Change: I76V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: I76V

DomainStartEndE-ValueType
S_TKc 23 279 5.87e-112 SMART
low complexity region 326 343 N/A INTRINSIC
low complexity region 358 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114987
AA Change: I68V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: I68V

DomainStartEndE-ValueType
S_TKc 23 271 1.35e-102 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 350 360 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T G 6: 83,133,556 (GRCm39) M1R probably null Het
Acap2 T C 16: 30,946,238 (GRCm39) D235G probably damaging Het
Adgrv1 C A 13: 81,647,241 (GRCm39) V3100F probably damaging Het
Aff4 A G 11: 53,288,686 (GRCm39) T401A probably damaging Het
Apcs T C 1: 172,722,391 (GRCm39) T22A probably benign Het
Atf7ip2 T C 16: 10,059,738 (GRCm39) V426A possibly damaging Het
Bach2 A G 4: 32,562,175 (GRCm39) D214G possibly damaging Het
Baz2a C T 10: 127,960,925 (GRCm39) A1578V possibly damaging Het
Ccdc182 A T 11: 88,185,324 (GRCm39) M135L probably benign Het
Cd47 C T 16: 49,716,731 (GRCm39) T201I Het
Chodl T C 16: 78,746,030 (GRCm39) S290P possibly damaging Het
Chst15 A G 7: 131,868,520 (GRCm39) L300P possibly damaging Het
Ciita T C 16: 10,324,571 (GRCm39) S168P probably damaging Het
Cntn2 C T 1: 132,456,678 (GRCm39) V123I probably benign Het
Cyld T A 8: 89,457,348 (GRCm39) L527Q probably benign Het
Dbn1 T A 13: 55,631,241 (GRCm39) Y34F probably damaging Het
Enc1 C A 13: 97,383,018 (GRCm39) Y509* probably null Het
Ermard A T 17: 15,273,643 (GRCm39) E409D probably benign Het
Extl3 T C 14: 65,314,765 (GRCm39) E139G possibly damaging Het
Fa2h A T 8: 112,082,115 (GRCm39) V177E possibly damaging Het
Flot2 T C 11: 77,949,772 (GRCm39) I367T probably damaging Het
Fras1 T C 5: 96,884,813 (GRCm39) Y2564H probably damaging Het
Fxyd3 A G 7: 30,773,018 (GRCm39) V10A probably benign Het
Gfra3 A G 18: 34,837,560 (GRCm39) L146P probably damaging Het
Gm49359 T C 13: 62,602,448 (GRCm39) N251D probably benign Het
Hps6 A G 19: 45,992,542 (GRCm39) S160G probably benign Het
Hsd17b7 C A 1: 169,794,875 (GRCm39) A55S probably damaging Het
Hspa12a T C 19: 58,789,298 (GRCm39) D446G probably benign Het
Htt G A 5: 34,989,957 (GRCm39) R1163Q possibly damaging Het
Ift81 T C 5: 122,697,833 (GRCm39) probably null Het
Ighv5-15 T G 12: 113,790,395 (GRCm39) Y75S probably benign Het
Kcnd2 T A 6: 21,725,981 (GRCm39) H491Q probably damaging Het
Lamb3 C A 1: 193,014,665 (GRCm39) T608K probably benign Het
Lrtm2 T A 6: 119,297,412 (GRCm39) K210* probably null Het
Med13 G T 11: 86,189,283 (GRCm39) P1209T probably benign Het
Mtus1 G A 8: 41,537,239 (GRCm39) T159I probably damaging Het
Myt1l A G 12: 29,901,659 (GRCm39) M805V unknown Het
Neb G T 2: 52,160,231 (GRCm39) L2261I probably benign Het
Nlrp4c G A 7: 6,068,498 (GRCm39) R133H probably benign Het
Nol11 A T 11: 107,071,765 (GRCm39) L276Q probably damaging Het
Nrap A G 19: 56,350,277 (GRCm39) Y614H probably damaging Het
Or13c9 G A 4: 52,936,211 (GRCm39) T24M probably damaging Het
Or52p1 A G 7: 104,267,705 (GRCm39) H273R probably damaging Het
Pou2f3 A G 9: 43,040,224 (GRCm39) S355P probably damaging Het
Ppm1l C A 3: 69,460,453 (GRCm39) N343K probably damaging Het
Prh1 A T 6: 132,548,573 (GRCm39) I27F unknown Het
Prkrip1 A T 5: 136,223,203 (GRCm39) L85Q probably damaging Het
Pycr3 C T 15: 75,790,563 (GRCm39) V99I probably benign Het
R3hdm4 T A 10: 79,749,393 (GRCm39) N72I probably damaging Het
Rab11fip3 G T 17: 26,231,032 (GRCm39) H738N probably benign Het
Rtl1 G A 12: 109,556,673 (GRCm39) A1722V possibly damaging Het
Sell A G 1: 163,893,122 (GRCm39) N113D probably damaging Het
Smarcal1 T C 1: 72,665,697 (GRCm39) S732P probably damaging Het
Smurf2 A T 11: 106,743,424 (GRCm39) D207E probably benign Het
Spata31h1 G A 10: 82,121,439 (GRCm39) S3857L probably benign Het
Tat C T 8: 110,723,510 (GRCm39) R333C probably benign Het
Tmem121b A T 6: 120,469,234 (GRCm39) F494L probably damaging Het
Tmem198 C A 1: 75,456,522 (GRCm39) P89Q probably damaging Het
Tnks2 T G 19: 36,835,284 (GRCm39) C2G probably damaging Het
Trappc9 T C 15: 72,673,202 (GRCm39) E869G unknown Het
Trim42 T A 9: 97,251,584 (GRCm39) K105M probably benign Het
Ttll3 T C 6: 113,369,635 (GRCm39) S60P probably benign Het
Ttll4 T A 1: 74,725,121 (GRCm39) I625N possibly damaging Het
Tubgcp5 T A 7: 55,479,181 (GRCm39) probably null Het
Txlnb A T 10: 17,682,594 (GRCm39) Y172F probably damaging Het
Ube2e3 A T 2: 78,744,035 (GRCm39) D88V possibly damaging Het
Vmn1r189 T A 13: 22,286,430 (GRCm39) I136L probably benign Het
Vmn2r71 A G 7: 85,267,950 (GRCm39) I135V probably benign Het
Vmn2r73 T A 7: 85,519,073 (GRCm39) R516S probably benign Het
Wrn C T 8: 33,731,006 (GRCm39) E1352K probably benign Het
Zfp318 T C 17: 46,722,139 (GRCm39) S1381P probably damaging Het
Zfp747 A T 7: 126,973,655 (GRCm39) Y172N probably damaging Het
Other mutations in Camk1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Camk1d APN 2 5,315,884 (GRCm39) splice site probably benign
IGL02138:Camk1d APN 2 5,449,895 (GRCm39) nonsense probably null
IGL02826:Camk1d APN 2 5,570,571 (GRCm39) missense possibly damaging 0.56
IGL02999:Camk1d APN 2 5,359,516 (GRCm39) missense probably benign 0.44
R0432:Camk1d UTSW 2 5,449,946 (GRCm39) missense probably damaging 1.00
R1180:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R1448:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R1628:Camk1d UTSW 2 5,315,848 (GRCm39) missense probably damaging 0.99
R1850:Camk1d UTSW 2 5,366,826 (GRCm39) missense probably benign 0.08
R1998:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R2000:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R2513:Camk1d UTSW 2 5,719,047 (GRCm39) start codon destroyed probably null 0.15
R4065:Camk1d UTSW 2 5,570,584 (GRCm39) missense probably damaging 1.00
R4201:Camk1d UTSW 2 5,359,587 (GRCm39) missense probably benign 0.03
R4581:Camk1d UTSW 2 5,359,515 (GRCm39) missense probably benign 0.21
R4760:Camk1d UTSW 2 5,366,867 (GRCm39) missense probably damaging 1.00
R4894:Camk1d UTSW 2 5,359,539 (GRCm39) missense probably damaging 1.00
R5001:Camk1d UTSW 2 5,317,912 (GRCm39) missense possibly damaging 0.50
R5394:Camk1d UTSW 2 5,308,177 (GRCm39) missense probably benign 0.10
R5754:Camk1d UTSW 2 5,449,910 (GRCm39) missense probably damaging 1.00
R5754:Camk1d UTSW 2 5,449,908 (GRCm39) missense probably benign 0.10
R5877:Camk1d UTSW 2 5,570,476 (GRCm39) missense probably benign 0.00
R6444:Camk1d UTSW 2 5,317,956 (GRCm39) missense probably damaging 1.00
R7315:Camk1d UTSW 2 5,344,041 (GRCm39) missense probably damaging 1.00
R9177:Camk1d UTSW 2 5,303,901 (GRCm39) missense probably benign 0.21
R9268:Camk1d UTSW 2 5,303,901 (GRCm39) missense probably benign 0.21
R9433:Camk1d UTSW 2 5,680,777 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGATGACTGTGTGCCCCATG -3'
(R):5'- CAATCCAGTGTTGGCTGTGG -3'

Sequencing Primer
(F):5'- CCATGTGGGGGCCATCTTAG -3'
(R):5'- CAAGGAAGTAGAGTCTTCAATG -3'
Posted On 2022-04-18