Incidental Mutation 'R0615:Commd2'
ID 54998
Institutional Source Beutler Lab
Gene Symbol Commd2
Ensembl Gene ENSMUSG00000036513
Gene Name COMM domain containing 2
Synonyms 1190017G07Rik, D3Ertd176e, HSPC042
MMRRC Submission 038804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0615 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 57551770-57559105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57554116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 195 (V195D)
Ref Sequence ENSEMBL: ENSMUSP00000124819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041954] [ENSMUST00000160959]
AlphaFold Q8BXC6
Predicted Effect probably benign
Transcript: ENSMUST00000041954
Predicted Effect possibly damaging
Transcript: ENSMUST00000160959
AA Change: V195D

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124819
Gene: ENSMUSG00000036513
AA Change: V195D

DomainStartEndE-ValueType
Pfam:HCaRG 15 188 1.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163087
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,040,962 (GRCm39) I31T possibly damaging Het
Abca13 A G 11: 9,206,197 (GRCm39) I166V probably damaging Het
Acaa2 G T 18: 74,931,517 (GRCm39) V238L probably benign Het
Ahsg A T 16: 22,717,805 (GRCm39) I296F possibly damaging Het
Aspm T A 1: 139,415,027 (GRCm39) V1436D probably damaging Het
Ate1 A T 7: 130,115,563 (GRCm39) probably benign Het
Atosa T A 9: 74,911,570 (GRCm39) Y14N probably damaging Het
Atp1a4 A T 1: 172,059,627 (GRCm39) probably benign Het
Aurkc A T 7: 7,005,402 (GRCm39) I223L possibly damaging Het
Bckdha G T 7: 25,341,210 (GRCm39) D50E probably benign Het
Brf2 C T 8: 27,614,059 (GRCm39) E376K probably benign Het
Cdk9 C A 2: 32,599,813 (GRCm39) L141F possibly damaging Het
Cgn A C 3: 94,678,024 (GRCm39) probably benign Het
Clcn1 G A 6: 42,282,509 (GRCm39) V526I probably damaging Het
Cnot2 A G 10: 116,334,141 (GRCm39) V343A possibly damaging Het
Cubn C T 2: 13,365,063 (GRCm39) probably null Het
Eif2ak4 C T 2: 118,266,666 (GRCm39) T729M probably damaging Het
Elac1 A T 18: 73,871,954 (GRCm39) V347E probably damaging Het
Fam209 T C 2: 172,316,053 (GRCm39) S143P probably benign Het
Fam20c G A 5: 138,793,241 (GRCm39) R454Q probably damaging Het
Faxc C T 4: 21,958,608 (GRCm39) S255L probably benign Het
Fem1al C A 11: 29,774,515 (GRCm39) R314L probably damaging Het
Foxj1 T C 11: 116,224,908 (GRCm39) D153G possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Lmo7 T A 14: 102,114,295 (GRCm39) Y12* probably null Het
Matn3 T G 12: 9,013,594 (GRCm39) C425W probably damaging Het
Mmd2 A T 5: 142,550,668 (GRCm39) M190K probably benign Het
Morn2 A T 17: 80,603,026 (GRCm39) T102S probably damaging Het
Nr3c2 A C 8: 77,912,518 (GRCm39) T710P probably benign Het
Nrros C A 16: 31,962,903 (GRCm39) L343F probably damaging Het
Ntrk2 C T 13: 59,276,000 (GRCm39) Q767* probably null Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4k47 C T 2: 111,452,264 (GRCm39) D52N possibly damaging Het
Plekhf2 C T 4: 10,991,330 (GRCm39) R4H probably benign Het
Ppox A G 1: 171,105,387 (GRCm39) probably benign Het
Qprt T A 7: 126,708,248 (GRCm39) D61V probably damaging Het
Reln A G 5: 22,215,148 (GRCm39) V1101A probably benign Het
Sbno1 T C 5: 124,548,202 (GRCm39) N124D probably damaging Het
Scx C T 15: 76,342,295 (GRCm39) P165L probably benign Het
Sema6d T C 2: 124,496,055 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,336 (GRCm39) F92L probably benign Het
Synpo2 A T 3: 122,910,936 (GRCm39) N236K probably damaging Het
Tbc1d32 C A 10: 56,100,736 (GRCm39) D81Y probably benign Het
Terf2 G A 8: 107,809,622 (GRCm39) T232I possibly damaging Het
Tpd52l2 A G 2: 181,143,744 (GRCm39) E50G probably damaging Het
Tprn A G 2: 25,154,210 (GRCm39) E504G probably damaging Het
Tufm G T 7: 126,086,654 (GRCm39) R12L probably benign Het
Vmn2r8 A G 5: 108,947,195 (GRCm39) F519S probably damaging Het
Vwa8 T C 14: 79,145,590 (GRCm39) V89A probably benign Het
Wnt3 T C 11: 103,703,207 (GRCm39) I230T possibly damaging Het
Zan A T 5: 137,466,693 (GRCm39) F388Y probably damaging Het
Zfp474 C T 18: 52,771,421 (GRCm39) L25F probably benign Het
Other mutations in Commd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Commd2 APN 3 57,558,143 (GRCm39) missense probably benign
IGL02493:Commd2 APN 3 57,559,080 (GRCm39) utr 5 prime probably benign
R1539:Commd2 UTSW 3 57,554,269 (GRCm39) missense probably benign 0.06
R4748:Commd2 UTSW 3 57,554,215 (GRCm39) missense probably benign 0.15
R5183:Commd2 UTSW 3 57,554,235 (GRCm39) missense probably benign
R7051:Commd2 UTSW 3 57,554,107 (GRCm39) missense probably damaging 1.00
R7524:Commd2 UTSW 3 57,557,569 (GRCm39) missense probably damaging 1.00
R9635:Commd2 UTSW 3 57,559,064 (GRCm39) missense probably benign 0.01
Z1176:Commd2 UTSW 3 57,554,278 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCCGAAGAGTCCACAGAAATCAGC -3'
(R):5'- GCAACAGATTAAGCCAGCAGTGACC -3'

Sequencing Primer
(F):5'- TGCTTTCCAACCTGCAAGAAG -3'
(R):5'- TTAAGCCAGCAGTGACCATAAAG -3'
Posted On 2013-07-11