Incidental Mutation 'R6721:CN725425'
ID 529607
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 044839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6721 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91115821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 21 (K21R)
Ref Sequence ENSEMBL: ENSMUSP00000140772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109284] [ENSMUST00000190436]
AlphaFold A0A087WRU1
Predicted Effect possibly damaging
Transcript: ENSMUST00000109284
AA Change: K14R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: K14R

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
Pfam:DUF4552 219 643 2.7e-202 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190436
AA Change: K21R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: K21R

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,634 (GRCm39) L3588S probably benign Het
Ankrd27 T C 7: 35,311,976 (GRCm39) F402S probably damaging Het
Aplp1 T C 7: 30,139,720 (GRCm39) Q359R probably null Het
Arhgef10l T C 4: 140,297,655 (GRCm39) Y546C probably damaging Het
Bltp2 T C 11: 78,170,625 (GRCm39) Y1615H probably damaging Het
Cd46 T C 1: 194,765,939 (GRCm39) Y142C probably damaging Het
Cfap418 A G 4: 10,874,744 (GRCm39) N44D probably benign Het
Chd3 T C 11: 69,260,045 (GRCm39) probably benign Het
Cmtm2b A G 8: 105,049,077 (GRCm39) S31G possibly damaging Het
Cngb1 T C 8: 95,997,516 (GRCm39) T560A probably benign Het
Creb3l3 T C 10: 80,926,977 (GRCm39) D151G probably damaging Het
Cts7 A T 13: 61,504,108 (GRCm39) V124E probably damaging Het
Ctsd G A 7: 141,930,590 (GRCm39) P349S possibly damaging Het
Ern1 A G 11: 106,302,478 (GRCm39) W459R probably damaging Het
Faxc A T 4: 21,982,672 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,084 (GRCm39) I239T probably damaging Het
Galnt12 T A 4: 47,122,529 (GRCm39) C269* probably null Het
Gmpr2 A T 14: 55,910,191 (GRCm39) D7V probably damaging Het
Hivep3 T A 4: 119,952,296 (GRCm39) I204N possibly damaging Het
Il16 A T 7: 83,312,270 (GRCm39) probably null Het
Jag1 T C 2: 136,936,394 (GRCm39) T367A probably benign Het
Lefty2 T C 1: 180,722,166 (GRCm39) V168A probably damaging Het
Mecom T C 3: 30,034,023 (GRCm39) E227G probably damaging Het
Muc5ac T A 7: 141,352,729 (GRCm39) C739S possibly damaging Het
Npy1r T A 8: 67,156,941 (GRCm39) C120* probably null Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Ogfr T A 2: 180,237,221 (GRCm39) L602Q possibly damaging Het
Or10g7 C T 9: 39,905,603 (GRCm39) P166S possibly damaging Het
Or10h5 C T 17: 33,434,508 (GRCm39) G270E probably benign Het
Or7e178 A C 9: 20,225,576 (GRCm39) D213E probably benign Het
Perm1 G T 4: 156,302,776 (GRCm39) R440L probably benign Het
Plcb4 T C 2: 135,752,157 (GRCm39) V121A probably benign Het
Plxna4 C T 6: 32,177,794 (GRCm39) V1036M probably benign Het
Ppl A T 16: 4,925,333 (GRCm39) M102K probably damaging Het
Prop1 T C 11: 50,844,213 (GRCm39) S7G probably benign Het
Rabggta A G 14: 55,954,660 (GRCm39) L507P probably damaging Het
Sfmbt2 A G 2: 10,547,836 (GRCm39) T473A probably damaging Het
Spc25 A C 2: 69,027,517 (GRCm39) M125R possibly damaging Het
Taok3 T C 5: 117,393,928 (GRCm39) M567T probably benign Het
Tlr3 A G 8: 45,851,917 (GRCm39) Y327H probably benign Het
Tmem209 A G 6: 30,497,174 (GRCm39) F339L probably benign Het
U2surp T C 9: 95,373,157 (GRCm39) N279S probably damaging Het
Ythdf3 G A 3: 16,258,025 (GRCm39) M61I possibly damaging Het
Zfp647 T C 15: 76,796,076 (GRCm39) I195V probably benign Het
Other mutations in CN725425
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:CN725425 APN 15 91,129,955 (GRCm39) missense possibly damaging 0.71
IGL02176:CN725425 APN 15 91,130,024 (GRCm39) missense probably benign
3-1:CN725425 UTSW 15 91,144,724 (GRCm39) missense possibly damaging 0.52
R0449:CN725425 UTSW 15 91,123,147 (GRCm39) missense possibly damaging 0.73
R0554:CN725425 UTSW 15 91,144,966 (GRCm39) missense possibly damaging 0.86
R1442:CN725425 UTSW 15 91,123,158 (GRCm39) missense possibly damaging 0.96
R1670:CN725425 UTSW 15 91,130,018 (GRCm39) missense possibly damaging 0.86
R1674:CN725425 UTSW 15 91,131,124 (GRCm39) missense possibly damaging 0.93
R2425:CN725425 UTSW 15 91,130,058 (GRCm39) missense probably damaging 0.97
R3966:CN725425 UTSW 15 91,126,890 (GRCm39) critical splice donor site probably null
R4959:CN725425 UTSW 15 91,129,904 (GRCm39) missense possibly damaging 0.92
R4973:CN725425 UTSW 15 91,129,904 (GRCm39) missense possibly damaging 0.92
R5506:CN725425 UTSW 15 91,120,029 (GRCm39) missense possibly damaging 0.85
R5512:CN725425 UTSW 15 91,124,959 (GRCm39) missense probably benign
R5726:CN725425 UTSW 15 91,144,706 (GRCm39) missense possibly damaging 0.85
R5808:CN725425 UTSW 15 91,129,847 (GRCm39) missense probably benign 0.32
R5820:CN725425 UTSW 15 91,144,900 (GRCm39) missense possibly damaging 0.71
R5945:CN725425 UTSW 15 91,129,980 (GRCm39) missense possibly damaging 0.86
R6366:CN725425 UTSW 15 91,131,124 (GRCm39) missense possibly damaging 0.93
R6441:CN725425 UTSW 15 91,120,005 (GRCm39) missense probably benign 0.33
R6484:CN725425 UTSW 15 91,144,775 (GRCm39) missense probably benign 0.32
R6523:CN725425 UTSW 15 91,115,784 (GRCm39) missense probably benign 0.01
R6901:CN725425 UTSW 15 91,124,966 (GRCm39) missense possibly damaging 0.93
R7341:CN725425 UTSW 15 91,126,873 (GRCm39) missense possibly damaging 0.96
R7654:CN725425 UTSW 15 91,123,638 (GRCm39) missense probably benign 0.04
R7704:CN725425 UTSW 15 91,119,993 (GRCm39) missense possibly damaging 0.86
R7709:CN725425 UTSW 15 91,124,930 (GRCm39) missense probably benign
R7880:CN725425 UTSW 15 91,130,308 (GRCm39) nonsense probably null
R8371:CN725425 UTSW 15 91,124,973 (GRCm39) missense probably benign 0.33
R8964:CN725425 UTSW 15 91,119,972 (GRCm39) missense possibly damaging 0.53
R8968:CN725425 UTSW 15 91,130,090 (GRCm39) missense possibly damaging 0.86
R9505:CN725425 UTSW 15 91,124,867 (GRCm39) missense possibly damaging 0.86
R9632:CN725425 UTSW 15 91,126,851 (GRCm39) missense possibly damaging 0.53
R9689:CN725425 UTSW 15 91,120,030 (GRCm39) missense possibly damaging 0.70
Z1088:CN725425 UTSW 15 91,129,965 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTGGTTCAGTAAACACCGTTTC -3'
(R):5'- ATCATTGTAAGTGTCTGCTTGAGC -3'

Sequencing Primer
(F):5'- GGTTCAGTAAACACCGTTTCTAATGC -3'
(R):5'- GTCTGGAAGACTAGAACTCACTATG -3'
Posted On 2018-08-01