Incidental Mutation 'R6431:Carm1'
ID 518538
Institutional Source Beutler Lab
Gene Symbol Carm1
Ensembl Gene ENSMUSG00000032185
Gene Name coactivator-associated arginine methyltransferase 1
Synonyms m9Bei, Prmt4
MMRRC Submission 044569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6431 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21458163-21500763 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21494373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 297 (P297T)
Ref Sequence ENSEMBL: ENSMUSP00000111053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034703] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032]
AlphaFold Q9WVG6
Predicted Effect probably damaging
Transcript: ENSMUST00000034703
AA Change: P297T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: P297T

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.1e-71 PFAM
Pfam:PRMT5 144 447 2.3e-16 PFAM
Pfam:MTS 166 308 2.7e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 173 287 2.2e-12 PFAM
Pfam:Methyltransf_31 183 325 7.4e-11 PFAM
Pfam:Methyltransf_18 185 290 5.1e-12 PFAM
Pfam:Methyltransf_26 186 287 5.3e-10 PFAM
Pfam:Methyltransf_11 190 287 8.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 562 576 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115394
AA Change: P297T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: P297T

DomainStartEndE-ValueType
Pfam:CARM1 29 140 4.7e-63 PFAM
Pfam:PRMT5 145 447 4.1e-16 PFAM
Pfam:Methyltransf_9 168 318 1.4e-9 PFAM
Pfam:MTS 170 299 2.5e-9 PFAM
Pfam:PrmA 175 287 3.7e-12 PFAM
Pfam:Methyltransf_31 183 326 1.9e-10 PFAM
Pfam:Methyltransf_18 185 290 4e-9 PFAM
Pfam:Methyltransf_11 190 287 6.5e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 606 619 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115395
AA Change: P297T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: P297T

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2e-71 PFAM
Pfam:PRMT5 144 447 2.1e-16 PFAM
Pfam:MTS 166 308 2.6e-10 PFAM
Pfam:Methyltransf_9 168 318 1.1e-9 PFAM
Pfam:PrmA 172 287 2.1e-12 PFAM
Pfam:Methyltransf_31 183 326 6.9e-11 PFAM
Pfam:Methyltransf_18 185 290 4.8e-12 PFAM
Pfam:Methyltransf_26 186 287 5e-10 PFAM
Pfam:Methyltransf_11 190 287 8.1e-7 PFAM
low complexity region 477 494 N/A INTRINSIC
low complexity region 540 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130032
SMART Domains Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154049
Predicted Effect probably benign
Transcript: ENSMUST00000216160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147749
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,099,607 (GRCm39) E719G probably damaging Het
Ankdd1a A G 9: 65,424,220 (GRCm39) M31T possibly damaging Het
Atp13a5 T C 16: 29,070,154 (GRCm39) K911E possibly damaging Het
Bpifb3 G T 2: 153,766,728 (GRCm39) L210F probably damaging Het
Cacna1c T C 6: 118,728,334 (GRCm39) Y211C probably damaging Het
Cdh19 A T 1: 110,852,787 (GRCm39) Y383N probably benign Het
Cfap221 T C 1: 119,860,583 (GRCm39) H681R probably damaging Het
Cmya5 A C 13: 93,210,972 (GRCm39) S3274A possibly damaging Het
Cndp2 T A 18: 84,693,203 (GRCm39) K186* probably null Het
Ctdp1 G T 18: 80,494,470 (GRCm39) F310L probably damaging Het
Cyp2c55 A T 19: 39,019,853 (GRCm39) I264F probably damaging Het
Dhx40 A T 11: 86,664,649 (GRCm39) F628I probably damaging Het
Disc1 T A 8: 125,862,128 (GRCm39) M500K possibly damaging Het
Dnah5 A C 15: 28,349,970 (GRCm39) D2551A possibly damaging Het
Esyt1 A G 10: 128,352,543 (GRCm39) probably null Het
Fam78a T C 2: 31,972,843 (GRCm39) S26G probably damaging Het
Fn1 G A 1: 71,687,003 (GRCm39) probably null Het
Gbx1 T C 5: 24,709,916 (GRCm39) T310A probably benign Het
Ggh T A 4: 20,042,219 (GRCm39) C16S unknown Het
Gm11595 T A 11: 99,663,600 (GRCm39) T27S unknown Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Gsk3b A G 16: 38,014,311 (GRCm39) I256M probably damaging Het
Hmcn1 A T 1: 150,620,711 (GRCm39) S1166R probably benign Het
Hyou1 T C 9: 44,293,322 (GRCm39) probably null Het
Jup G T 11: 100,265,167 (GRCm39) R637S probably benign Het
Lama2 T A 10: 26,929,027 (GRCm39) I2087F possibly damaging Het
Lamc1 T G 1: 153,097,417 (GRCm39) K1542N probably benign Het
Lgals4 G T 7: 28,540,117 (GRCm39) Het
Lrrc8d A G 5: 105,959,626 (GRCm39) D12G probably damaging Het
Lrwd1 C T 5: 136,161,888 (GRCm39) V207M possibly damaging Het
Mbd1 T A 18: 74,406,762 (GRCm39) probably null Het
Msi1 T A 5: 115,588,984 (GRCm39) I333N probably damaging Het
Neo1 C T 9: 58,814,354 (GRCm39) V871I probably benign Het
Nr2c1 T C 10: 94,024,078 (GRCm39) C428R probably damaging Het
Ntm A G 9: 29,322,978 (GRCm39) L14P probably damaging Het
Nxpe4 A T 9: 48,304,145 (GRCm39) K77N probably damaging Het
Or1p1c A C 11: 74,160,235 (GRCm39) T7P possibly damaging Het
Or4c119 T A 2: 88,987,505 (GRCm39) S5C probably damaging Het
Or4f17-ps1 T A 2: 111,358,001 (GRCm39) M132K probably damaging Het
Or8g30 T C 9: 39,230,074 (GRCm39) T279A possibly damaging Het
Or8k18 G A 2: 86,085,702 (GRCm39) L112F probably benign Het
Pappa T A 4: 65,074,701 (GRCm39) D418E probably damaging Het
Pde4d G A 13: 109,738,320 (GRCm39) probably null Het
Pip A G 6: 41,828,391 (GRCm39) N75S possibly damaging Het
Plcl1 G C 1: 55,736,411 (GRCm39) R584P probably benign Het
Pnp A T 14: 51,188,471 (GRCm39) D237V probably damaging Het
Ppp1r12a T C 10: 108,098,281 (GRCm39) W857R probably damaging Het
Pramel13 T C 4: 144,119,653 (GRCm39) T305A possibly damaging Het
Ptchd3 A T 11: 121,727,229 (GRCm39) M368L probably benign Het
Pum1 T A 4: 130,501,816 (GRCm39) S868R probably damaging Het
R3hdml A T 2: 163,344,324 (GRCm39) S238C probably damaging Het
Robo2 G A 16: 73,843,697 (GRCm39) R173* probably null Het
Sall3 A G 18: 81,016,402 (GRCm39) S509P possibly damaging Het
Sap130 T G 18: 31,799,418 (GRCm39) H298Q possibly damaging Het
Selenov C A 7: 27,987,458 (GRCm39) G307C probably damaging Het
Setd2 T A 9: 110,379,453 (GRCm39) H1089Q possibly damaging Het
Setdb2 T C 14: 59,656,505 (GRCm39) N287D probably damaging Het
Sis C T 3: 72,865,507 (GRCm39) V182I probably benign Het
Slc32a1 A C 2: 158,453,457 (GRCm39) D99A probably benign Het
Slk A G 19: 47,609,327 (GRCm39) D760G probably damaging Het
Smg5 T A 3: 88,258,527 (GRCm39) D499E probably benign Het
Spata31e2 T A 1: 26,723,111 (GRCm39) N690Y probably benign Het
Stat3 T C 11: 100,780,400 (GRCm39) T720A possibly damaging Het
Trdn T G 10: 33,015,110 (GRCm39) N21K probably damaging Het
Trpm4 A T 7: 44,975,992 (GRCm39) V118E possibly damaging Het
Vgll3 A G 16: 65,612,640 (GRCm39) Q41R probably damaging Het
Vmn1r189 A G 13: 22,286,525 (GRCm39) V104A probably damaging Het
Vmn1r46 A T 6: 89,953,389 (GRCm39) R79S probably benign Het
Zscan4c T C 7: 10,740,856 (GRCm39) M125T probably benign Het
Other mutations in Carm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Carm1 APN 9 21,498,490 (GRCm39) missense possibly damaging 0.62
IGL01360:Carm1 APN 9 21,498,598 (GRCm39) missense probably benign 0.19
IGL01401:Carm1 APN 9 21,480,878 (GRCm39) critical splice donor site probably null
IGL02218:Carm1 APN 9 21,480,808 (GRCm39) missense probably damaging 1.00
IGL02436:Carm1 APN 9 21,490,758 (GRCm39) missense probably damaging 1.00
IGL02601:Carm1 APN 9 21,498,204 (GRCm39) missense probably damaging 1.00
R0551:Carm1 UTSW 9 21,491,787 (GRCm39) splice site probably null
R0580:Carm1 UTSW 9 21,494,880 (GRCm39) missense probably damaging 1.00
R0724:Carm1 UTSW 9 21,498,670 (GRCm39) missense probably damaging 1.00
R0883:Carm1 UTSW 9 21,480,887 (GRCm39) splice site probably benign
R1390:Carm1 UTSW 9 21,490,789 (GRCm39) missense probably damaging 1.00
R1713:Carm1 UTSW 9 21,497,785 (GRCm39) missense probably damaging 0.97
R1950:Carm1 UTSW 9 21,485,812 (GRCm39) missense probably benign 0.01
R1960:Carm1 UTSW 9 21,491,606 (GRCm39) missense probably benign 0.40
R2402:Carm1 UTSW 9 21,494,836 (GRCm39) missense probably damaging 1.00
R2512:Carm1 UTSW 9 21,486,708 (GRCm39) critical splice acceptor site probably null
R2520:Carm1 UTSW 9 21,494,893 (GRCm39) splice site probably null
R2939:Carm1 UTSW 9 21,490,692 (GRCm39) splice site probably null
R2940:Carm1 UTSW 9 21,490,692 (GRCm39) splice site probably null
R3081:Carm1 UTSW 9 21,490,692 (GRCm39) splice site probably null
R3407:Carm1 UTSW 9 21,497,478 (GRCm39) missense probably damaging 1.00
R3434:Carm1 UTSW 9 21,480,769 (GRCm39) missense probably damaging 1.00
R3808:Carm1 UTSW 9 21,498,258 (GRCm39) missense probably damaging 1.00
R4504:Carm1 UTSW 9 21,480,822 (GRCm39) missense probably damaging 1.00
R4700:Carm1 UTSW 9 21,498,480 (GRCm39) missense probably benign 0.12
R5019:Carm1 UTSW 9 21,490,807 (GRCm39) critical splice donor site probably null
R5362:Carm1 UTSW 9 21,498,655 (GRCm39) missense probably benign 0.03
R5661:Carm1 UTSW 9 21,498,295 (GRCm39) missense probably benign 0.10
R5730:Carm1 UTSW 9 21,491,636 (GRCm39) missense probably benign 0.37
R5913:Carm1 UTSW 9 21,498,848 (GRCm39) missense probably benign 0.01
R5928:Carm1 UTSW 9 21,486,598 (GRCm39) intron probably benign
R6370:Carm1 UTSW 9 21,498,815 (GRCm39) missense probably benign 0.11
R6555:Carm1 UTSW 9 21,498,258 (GRCm39) missense probably damaging 1.00
R7177:Carm1 UTSW 9 21,458,323 (GRCm39) missense unknown
R7235:Carm1 UTSW 9 21,498,701 (GRCm39) critical splice donor site probably benign
R7249:Carm1 UTSW 9 21,497,505 (GRCm39) missense probably benign
R7576:Carm1 UTSW 9 21,497,832 (GRCm39) critical splice donor site probably null
R7650:Carm1 UTSW 9 21,491,668 (GRCm39) missense probably benign 0.00
R7664:Carm1 UTSW 9 21,498,286 (GRCm39) missense probably benign 0.01
R8359:Carm1 UTSW 9 21,480,765 (GRCm39) missense possibly damaging 0.51
R8683:Carm1 UTSW 9 21,497,464 (GRCm39) missense possibly damaging 0.72
R8690:Carm1 UTSW 9 21,480,808 (GRCm39) missense probably damaging 1.00
R8821:Carm1 UTSW 9 21,491,663 (GRCm39) missense probably damaging 1.00
R8831:Carm1 UTSW 9 21,491,663 (GRCm39) missense probably damaging 1.00
R8947:Carm1 UTSW 9 21,497,749 (GRCm39) missense probably damaging 1.00
R8950:Carm1 UTSW 9 21,490,789 (GRCm39) missense probably damaging 1.00
R9242:Carm1 UTSW 9 21,494,350 (GRCm39) missense probably damaging 1.00
R9399:Carm1 UTSW 9 21,486,791 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GGCCATGGACAAACAACATG -3'
(R):5'- CCTTTAGATCCTACTGTGGCCG -3'

Sequencing Primer
(F):5'- CATGCACACTATAGCATGAATGG -3'
(R):5'- TAGATCCTACTGTGGCCGAGGAG -3'
Posted On 2018-05-24