Incidental Mutation 'R5183:Commd2'
ID 397654
Institutional Source Beutler Lab
Gene Symbol Commd2
Ensembl Gene ENSMUSG00000036513
Gene Name COMM domain containing 2
Synonyms 1190017G07Rik, D3Ertd176e, HSPC042
MMRRC Submission 042762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5183 (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 57554235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 155 (D155E)
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 probably benign
Transcript: ENSMUST00000160959
AA Change: D155E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124819
Gene: ENSMUSG00000036513
AA Change: D155E

DomainStartEndE-ValueType
Pfam:HCaRG 15 188 1.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163087
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,887,171 (GRCm39) D8E probably damaging Het
Abca3 T G 17: 24,593,427 (GRCm39) S275A probably benign Het
Adk A G 14: 21,290,599 (GRCm39) N155S probably damaging Het
Aqp11 T C 7: 97,386,963 (GRCm39) T78A probably benign Het
Arhgef40 T C 14: 52,241,556 (GRCm39) V1455A probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Cdan1 T A 2: 120,560,061 (GRCm39) I368F probably damaging Het
Cdc42bpg A G 19: 6,371,835 (GRCm39) probably benign Het
Celsr3 A G 9: 108,714,759 (GRCm39) D2013G probably damaging Het
Cep152 A G 2: 125,408,558 (GRCm39) V1332A probably damaging Het
Cftr T C 6: 18,299,832 (GRCm39) S1172P probably damaging Het
Coq7 T A 7: 118,127,490 (GRCm39) probably benign Het
Dnase2a T C 8: 85,636,207 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dock6 C T 9: 21,752,899 (GRCm39) V305I probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Fasn T C 11: 120,699,708 (GRCm39) Q2288R probably benign Het
Fat3 T A 9: 15,871,609 (GRCm39) N3594I probably damaging Het
Galnt10 T C 11: 57,660,414 (GRCm39) M284T probably damaging Het
Gatm A T 2: 122,425,984 (GRCm39) F422L probably benign Het
Glrp1 A T 1: 88,437,574 (GRCm39) I12N unknown Het
Gm5455 T A 13: 110,441,962 (GRCm39) noncoding transcript Het
Gpam C T 19: 55,071,659 (GRCm39) E361K probably damaging Het
Gps2 A G 11: 69,806,023 (GRCm39) T126A probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsg1 T A 6: 135,218,368 (GRCm39) Q176L probably damaging Het
Htra1 C T 7: 130,585,446 (GRCm39) A412V possibly damaging Het
Icosl C T 10: 77,905,319 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,372,813 (GRCm39) T1509A probably damaging Het
Irag2 A G 6: 145,083,946 (GRCm39) E37G probably benign Het
Itgad T C 7: 127,797,395 (GRCm39) probably null Het
Kdm5a C A 6: 120,406,977 (GRCm39) probably benign Het
Kidins220 T C 12: 25,101,125 (GRCm39) L1017S probably benign Het
Lrrc37 T C 11: 103,433,947 (GRCm39) Y898C probably damaging Het
Man2b1 T A 8: 85,822,413 (GRCm39) S804R probably damaging Het
Miip A T 4: 147,947,526 (GRCm39) F211L probably damaging Het
Moxd1 T G 10: 24,155,445 (GRCm39) probably null Het
Moxd1 T G 10: 24,163,034 (GRCm39) Y499D probably damaging Het
Mrpl45 T C 11: 97,207,577 (GRCm39) I24T probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mthfr T A 4: 148,135,817 (GRCm39) probably null Het
Muc5b T A 7: 141,404,547 (GRCm39) D827E unknown Het
Myo1g G C 11: 6,458,243 (GRCm39) L866V probably damaging Het
Myo3a A T 2: 22,468,170 (GRCm39) M475L probably benign Het
Ncoa2 A C 1: 13,244,590 (GRCm39) L703V probably damaging Het
Ncoa4-ps A C 12: 119,225,023 (GRCm39) noncoding transcript Het
Nme6 T A 9: 109,670,557 (GRCm39) Y69* probably null Het
Nwd1 T A 8: 73,397,714 (GRCm39) M651K probably benign Het
Or4k15c A C 14: 50,322,003 (GRCm39) I45S probably damaging Het
Orc2 A T 1: 58,513,977 (GRCm39) S298R possibly damaging Het
Oscp1 A T 4: 125,981,522 (GRCm39) E328V probably damaging Het
Pan2 T C 10: 128,153,838 (GRCm39) V1003A probably damaging Het
Pik3r4 T C 9: 105,559,507 (GRCm39) V1200A possibly damaging Het
Prl T C 13: 27,241,579 (GRCm39) probably benign Het
Ptprk T C 10: 28,351,232 (GRCm39) V575A probably benign Het
Rflna A T 5: 125,088,469 (GRCm39) S139C probably damaging Het
Robo1 T C 16: 72,539,038 (GRCm39) F27S probably benign Het
Secisbp2 T C 13: 51,819,460 (GRCm39) S347P probably benign Het
Shmt1 A G 11: 60,688,308 (GRCm39) probably benign Het
Slc27a3 A G 3: 90,296,477 (GRCm39) probably null Het
Slc6a5 T C 7: 49,585,957 (GRCm39) V425A probably damaging Het
Slc8a3 A G 12: 81,361,265 (GRCm39) V518A possibly damaging Het
Slco1a4 A T 6: 141,785,357 (GRCm39) Y78N probably damaging Het
Stt3b A T 9: 115,095,211 (GRCm39) H273Q probably damaging Het
Tle6 T A 10: 81,428,635 (GRCm39) N431I probably damaging Het
Trim34b C A 7: 103,979,118 (GRCm39) Q122K possibly damaging Het
Trio C A 15: 27,902,686 (GRCm39) R258S probably benign Het
Ttc7 A T 17: 87,600,306 (GRCm39) D23V probably damaging Het
Ttn A T 2: 76,810,525 (GRCm39) M1K probably null Het
Ufsp2 T C 8: 46,447,126 (GRCm39) V391A probably benign Het
Vps13c T C 9: 67,815,334 (GRCm39) L990S probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp618 G A 4: 63,017,519 (GRCm39) M234I 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
R0615:Commd2 UTSW 3 57,554,116 (GRCm39) missense possibly damaging 0.87
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
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'- TCAAGATTTCAACATCCTGAGCAG -3'
(R):5'- TTTGACATTTGTGATGCACCTAG -3'

Sequencing Primer
(F):5'- CCTGAGCAGGGAAAGAAACTCC -3'
(R):5'- GACATTTGTGATGCACCTAGAATTGG -3'
Posted On 2016-07-06