Incidental Mutation 'R6981:Carns1'
ID 542706
Institutional Source Beutler Lab
Gene Symbol Carns1
Ensembl Gene ENSMUSG00000075289
Gene Name carnosine synthase 1
Synonyms Atpgd1
MMRRC Submission 045089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6981 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4164324-4175479 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4170082 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 385 (T385A)
Ref Sequence ENSEMBL: ENSMUSP00000131624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167055]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000167055
AA Change: T385A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: T385A

DomainStartEndE-ValueType
low complexity region 206 217 N/A INTRINSIC
low complexity region 312 328 N/A INTRINSIC
low complexity region 332 348 N/A INTRINSIC
low complexity region 399 410 N/A INTRINSIC
low complexity region 414 433 N/A INTRINSIC
low complexity region 490 496 N/A INTRINSIC
Pfam:ATP-grasp_4 620 819 4.1e-46 PFAM
low complexity region 862 875 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,293,718 (GRCm38) probably benign Het
5031439G07Rik A C 15: 84,949,597 (GRCm38) Y419* probably null Het
Abca2 T A 2: 25,444,139 (GRCm38) F1809L probably damaging Het
Ache C T 5: 137,291,678 (GRCm38) T423I probably benign Het
Acvrl1 A G 15: 101,138,345 (GRCm38) T395A probably damaging Het
Ap3b2 A G 7: 81,477,993 (GRCm38) I145T probably damaging Het
Arhgef4 A C 1: 34,722,452 (GRCm38) Q263P unknown Het
Asgr2 C T 11: 70,096,810 (GRCm38) L45F probably damaging Het
Baiap2l1 T A 5: 144,285,579 (GRCm38) Y122F possibly damaging Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
Car8 A T 4: 8,185,650 (GRCm38) probably null Het
Ccdc47 T C 11: 106,202,737 (GRCm38) T41A probably benign Het
Ccne1 A T 7: 38,098,573 (GRCm38) probably benign Het
Cdh4 C T 2: 179,797,504 (GRCm38) T148I probably benign Het
Cep85 C T 4: 134,152,261 (GRCm38) R392Q probably damaging Het
Ces1h T C 8: 93,353,495 (GRCm38) T464A unknown Het
Cfl1 T A 19: 5,492,616 (GRCm38) S41R possibly damaging Het
Crnn T C 3: 93,148,135 (GRCm38) V76A probably damaging Het
Cspg4 A G 9: 56,887,101 (GRCm38) T707A probably benign Het
Dgkh A T 14: 78,627,742 (GRCm38) C53* probably null Het
Dhx34 G T 7: 16,215,330 (GRCm38) A391E possibly damaging Het
Dlx1 C A 2: 71,532,353 (GRCm38) N201K probably benign Het
Dnah6 T C 6: 73,021,178 (GRCm38) E4087G probably benign Het
Dock6 T C 9: 21,845,550 (GRCm38) Y134C probably damaging Het
Duox2 A G 2: 122,291,227 (GRCm38) V662A possibly damaging Het
Dusp12 A G 1: 170,880,961 (GRCm38) F12L probably damaging Het
Eppk1 T C 15: 76,111,037 (GRCm38) E548G probably benign Het
Foxj2 A G 6: 122,828,444 (GRCm38) I92V probably damaging Het
Foxj2 A G 6: 122,842,839 (GRCm38) D562G probably benign Het
Gm17728 A G 17: 9,422,159 (GRCm38) R34G probably damaging Het
Gpc6 T C 14: 117,624,548 (GRCm38) I292T probably damaging Het
Gpr15 T A 16: 58,718,185 (GRCm38) K180N probably benign Het
Gtf2ird1 G T 5: 134,383,922 (GRCm38) probably benign Het
Hist1h2ah A G 13: 22,035,549 (GRCm38) S2P probably benign Het
Hps3 T A 3: 20,022,820 (GRCm38) T393S probably damaging Het
Hspa1a A T 17: 34,970,291 (GRCm38) probably null Het
Hydin A G 8: 110,531,072 (GRCm38) E2378G possibly damaging Het
Ighv1-18 A G 12: 114,682,678 (GRCm38) L102P probably damaging Het
Itga5 T A 15: 103,350,226 (GRCm38) N814I probably benign Het
Kcnb2 T C 1: 15,710,256 (GRCm38) S451P probably damaging Het
Klhl32 T G 4: 24,709,030 (GRCm38) I112L probably damaging Het
Knstrn T G 2: 118,834,094 (GRCm38) I47R possibly damaging Het
Med23 T A 10: 24,895,824 (GRCm38) S581T possibly damaging Het
Mgat5 C T 1: 127,390,851 (GRCm38) T361I probably damaging Het
Nipal3 A G 4: 135,479,547 (GRCm38) V112A probably damaging Het
Olfr1287 T C 2: 111,449,352 (GRCm38) F71L probably benign Het
Olfr1359 A G 13: 21,703,073 (GRCm38) E24G probably benign Het
Olfr713 T A 7: 107,036,749 (GRCm38) V198D possibly damaging Het
Olfr996 A G 2: 85,579,481 (GRCm38) M81V probably benign Het
Paxip1 G A 5: 27,765,768 (GRCm38) Q528* probably null Het
Proser2 T C 2: 6,113,990 (GRCm38) D14G probably damaging Het
Rp1 T G 1: 4,345,655 (GRCm38) I1745L probably benign Het
Rxfp2 G T 5: 150,048,848 (GRCm38) probably null Het
Slc45a1 T C 4: 150,638,594 (GRCm38) S278G possibly damaging Het
Smurf1 A G 5: 144,886,369 (GRCm38) I455T possibly damaging Het
Speg T C 1: 75,430,913 (GRCm38) L3188P probably damaging Het
Tcaf3 G T 6: 42,597,125 (GRCm38) A51D probably damaging Het
Tecrl T C 5: 83,354,921 (GRCm38) N12S possibly damaging Het
Tmem17 T A 11: 22,518,508 (GRCm38) I149N possibly damaging Het
Tmem171 A G 13: 98,692,468 (GRCm38) V58A possibly damaging Het
Ttn A G 2: 76,861,177 (GRCm38) probably benign Het
Ubqln5 A G 7: 104,128,601 (GRCm38) S339P probably benign Het
Vmn1r16 T A 6: 57,323,488 (GRCm38) I50L probably benign Het
Vmn2r103 A T 17: 19,793,477 (GRCm38) Y177F probably benign Het
Zfp28 C A 7: 6,394,693 (GRCm38) T709K probably damaging Het
Zfp958 A G 8: 4,626,170 (GRCm38) N46S probably benign Het
Zyx T A 6: 42,350,357 (GRCm38) V30E unknown Het
Other mutations in Carns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Carns1 APN 19 4,166,499 (GRCm38) splice site probably null
IGL02246:Carns1 APN 19 4,166,432 (GRCm38) missense possibly damaging 0.87
IGL02658:Carns1 APN 19 4,173,084 (GRCm38) missense probably benign 0.01
IGL02800:Carns1 APN 19 4,166,570 (GRCm38) splice site probably benign
R1750:Carns1 UTSW 19 4,173,157 (GRCm38) missense possibly damaging 0.63
R1902:Carns1 UTSW 19 4,166,338 (GRCm38) missense probably damaging 1.00
R1935:Carns1 UTSW 19 4,165,474 (GRCm38) missense probably damaging 1.00
R2434:Carns1 UTSW 19 4,165,449 (GRCm38) missense probably damaging 1.00
R2437:Carns1 UTSW 19 4,165,783 (GRCm38) missense possibly damaging 0.69
R3772:Carns1 UTSW 19 4,170,916 (GRCm38) splice site probably benign
R4091:Carns1 UTSW 19 4,171,683 (GRCm38) missense probably damaging 0.96
R4518:Carns1 UTSW 19 4,170,070 (GRCm38) missense probably benign 0.05
R4668:Carns1 UTSW 19 4,165,476 (GRCm38) nonsense probably null
R4737:Carns1 UTSW 19 4,170,928 (GRCm38) intron probably benign
R4751:Carns1 UTSW 19 4,166,418 (GRCm38) missense probably damaging 1.00
R5384:Carns1 UTSW 19 4,171,901 (GRCm38) critical splice acceptor site probably null
R6077:Carns1 UTSW 19 4,170,876 (GRCm38) missense probably benign 0.01
R6373:Carns1 UTSW 19 4,166,516 (GRCm38) missense probably benign 0.41
R6411:Carns1 UTSW 19 4,166,464 (GRCm38) missense probably damaging 1.00
R6470:Carns1 UTSW 19 4,171,783 (GRCm38) missense possibly damaging 0.85
R6486:Carns1 UTSW 19 4,169,980 (GRCm38) missense probably benign 0.04
R6915:Carns1 UTSW 19 4,169,913 (GRCm38) missense probably benign 0.34
R7936:Carns1 UTSW 19 4,166,153 (GRCm38) missense probably benign
R8025:Carns1 UTSW 19 4,166,506 (GRCm38) missense probably damaging 1.00
R9279:Carns1 UTSW 19 4,166,257 (GRCm38) missense possibly damaging 0.51
R9711:Carns1 UTSW 19 4,166,008 (GRCm38) missense possibly damaging 0.94
R9725:Carns1 UTSW 19 4,166,549 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGTCGGTGTGCACTTG -3'
(R):5'- TCAGATGGCCAGTGATGCTG -3'

Sequencing Primer
(F):5'- CACTTGGCGTCCACCAC -3'
(R):5'- TAGGTCTTGATGAAGAAAGGGTTC -3'
Posted On 2018-11-28