Incidental Mutation 'R1442:CN725425'
ID 161569
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 039497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R1442 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91123158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 76 (V76M)
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: V69M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: V69M

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: V76M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: V76M

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Meta Mutation Damage Score 0.0778 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.4%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,833 (GRCm39) probably benign Het
Adamts7 T A 9: 90,070,823 (GRCm39) I648N probably damaging Het
Akap13 T A 7: 75,385,526 (GRCm39) F2252I probably damaging Het
Akr1c6 A T 13: 4,507,159 (GRCm39) H314L probably damaging Het
Anxa3 T A 5: 96,976,549 (GRCm39) probably null Het
Apob T G 12: 8,036,165 (GRCm39) F298V probably benign Het
Atp8a2 A C 14: 60,097,772 (GRCm39) probably benign Het
Atp8b5 A T 4: 43,334,313 (GRCm39) T360S probably damaging Het
BC051665 A T 13: 60,932,555 (GRCm39) N43K probably benign Het
Bicral T A 17: 47,112,650 (GRCm39) H850L probably benign Het
C1qtnf1 A G 11: 118,339,011 (GRCm39) D227G probably damaging Het
C8a T A 4: 104,685,275 (GRCm39) T323S possibly damaging Het
Cep89 T C 7: 35,117,636 (GRCm39) probably benign Het
Cercam G T 2: 29,770,652 (GRCm39) V408L probably benign Het
Cops7b T A 1: 86,532,835 (GRCm39) M231K probably benign Het
Cpa2 T A 6: 30,544,865 (GRCm39) probably null Het
Dab2ip A T 2: 35,600,268 (GRCm39) I287F probably damaging Het
Defb10 A T 8: 22,348,944 (GRCm39) M1L probably benign Het
Dscam C A 16: 96,409,274 (GRCm39) R1883L possibly damaging Het
Dsg4 T A 18: 20,595,717 (GRCm39) I640N possibly damaging Het
Duox2 G C 2: 122,112,232 (GRCm39) P1318R probably benign Het
Dzip3 T C 16: 48,765,985 (GRCm39) D466G probably benign Het
E230025N22Rik T A 18: 36,824,462 (GRCm39) probably null Het
E2f3 A G 13: 30,102,652 (GRCm39) L80P probably damaging Het
Eif2b2 T C 12: 85,266,360 (GRCm39) S9P probably benign Het
Etaa1 A T 11: 17,897,201 (GRCm39) D305E probably benign Het
Fads6 C A 11: 115,188,235 (GRCm39) R23L probably benign Het
Flrt2 T C 12: 95,746,979 (GRCm39) V439A probably damaging Het
Galm A C 17: 80,452,614 (GRCm39) Q184P probably damaging Het
Gtse1 C T 15: 85,744,303 (GRCm39) probably benign Het
Irf7 T C 7: 140,843,935 (GRCm39) T246A probably damaging Het
Kif28 A G 1: 179,532,697 (GRCm39) V639A possibly damaging Het
Klhdc8a G A 1: 132,230,385 (GRCm39) A167T possibly damaging Het
Lrfn3 T C 7: 30,059,469 (GRCm39) H252R probably benign Het
Lzts1 G T 8: 69,591,638 (GRCm39) A170E probably damaging Het
Mphosph9 T A 5: 124,403,461 (GRCm39) I856F possibly damaging Het
Mroh2a C T 1: 88,160,075 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Myh3 A G 11: 66,978,103 (GRCm39) N392D possibly damaging Het
Naalad2 T C 9: 18,262,328 (GRCm39) probably benign Het
Npc1 T A 18: 12,328,106 (GRCm39) M1068L probably benign Het
Nup58 T A 14: 60,469,992 (GRCm39) probably benign Het
Or10c1 T C 17: 37,522,595 (GRCm39) T50A probably benign Het
Or4k40 A T 2: 111,250,438 (GRCm39) I286N probably damaging Het
Or8b1 A T 9: 38,399,939 (GRCm39) I205F probably benign Het
Or8s16 T C 15: 98,211,068 (GRCm39) Y121C probably damaging Het
Parp2 T G 14: 51,056,732 (GRCm39) probably null Het
Ppp4r4 T C 12: 103,564,504 (GRCm39) V9A probably damaging Het
Ptprc T A 1: 138,000,050 (GRCm39) D856V probably damaging Het
Ptpru T A 4: 131,535,580 (GRCm39) T466S probably benign Het
Rhob A G 12: 8,549,325 (GRCm39) V103A possibly damaging Het
Sec23ip A C 7: 128,378,510 (GRCm39) S775R probably benign Het
Slit2 T G 5: 48,395,725 (GRCm39) D709E probably damaging Het
Smok2b C G 17: 13,454,390 (GRCm39) I183M probably damaging Het
Smtnl1 T A 2: 84,648,780 (GRCm39) D158V probably damaging Het
Syne2 T C 12: 75,993,489 (GRCm39) I2087T probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tecta T A 9: 42,243,778 (GRCm39) I2025F probably damaging Het
Themis T C 10: 28,658,131 (GRCm39) V386A probably damaging Het
Ubr5 G A 15: 38,015,168 (GRCm39) probably benign Het
Vcl T A 14: 21,033,446 (GRCm39) I134N probably damaging Het
Vegfa G A 17: 46,336,418 (GRCm39) T56I possibly damaging Het
Vmn2r108 T A 17: 20,692,623 (GRCm39) K78* probably null Het
Vmn2r82 A T 10: 79,215,201 (GRCm39) T395S probably benign Het
Wbp2nl T C 15: 82,198,407 (GRCm39) S315P probably benign Het
Zfp566 T C 7: 29,777,344 (GRCm39) Y279C probably damaging Het
Zmym2 T C 14: 57,180,784 (GRCm39) Y899H probably damaging 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
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
R6721:CN725425 UTSW 15 91,115,821 (GRCm39) missense possibly damaging 0.53
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'- aggtggagaaccacTGCTCTCAAG -3'
(R):5'- TCCCAGCAAATGAGAAAGCTGACAG -3'

Sequencing Primer
(F):5'- gagaaccacTGCTCTCAAGTTTAAAG -3'
(R):5'- AGAAAGCTGACAGTGTTCTGTG -3'
Posted On 2014-03-14