Incidental Mutation 'R4973:CN725425'
ID 382426
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 042568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R4973 (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 91129904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 256 (A256T)
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: A249T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: A249T

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: A256T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: A256T

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 97% (115/118)
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Ankrd27 A G 7: 35,332,417 (GRCm39) D848G probably benign Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atp2c2 A G 8: 120,481,002 (GRCm39) T797A probably benign Het
Ccdc121rt1 A T 1: 181,338,829 (GRCm39) V41E possibly damaging Het
Ccdc122 A T 14: 77,305,381 (GRCm39) I12F possibly damaging Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Cdk5r2 A G 1: 74,894,831 (GRCm39) D192G probably damaging Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
Clock A G 5: 76,402,258 (GRCm39) V134A possibly damaging Het
Csf1r A T 18: 61,262,119 (GRCm39) I792F probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
D5Ertd579e A G 5: 36,830,249 (GRCm39) V25A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Ddx5 C A 11: 106,675,833 (GRCm39) V286L possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dnhd1 T G 7: 105,362,840 (GRCm39) L3801V probably benign Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Ercc6 A G 14: 32,296,859 (GRCm39) D1283G probably damaging Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fanca G A 8: 124,035,261 (GRCm39) T228M probably damaging Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo16 G T 14: 65,558,746 (GRCm39) A302S probably benign Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm6327 T C 16: 12,578,845 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,735,462 (GRCm39) N411K possibly damaging Het
Golga1 A T 2: 38,929,118 (GRCm39) D308E probably damaging Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gsap A T 5: 21,459,037 (GRCm39) T501S probably benign Het
Helq A G 5: 100,940,737 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,234,108 (GRCm39) H291R probably benign Het
Htt A T 5: 34,970,367 (GRCm39) D505V probably damaging Het
Ildr1 C T 16: 36,528,660 (GRCm39) T35I probably benign Het
Iqgap2 A G 13: 95,794,305 (GRCm39) probably null Het
Kansl1 C T 11: 104,315,147 (GRCm39) R297H probably damaging Het
Kat2b-ps T C 5: 93,539,644 (GRCm39) noncoding transcript Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kcnt2 A T 1: 140,537,388 (GRCm39) S1116C probably damaging Het
Krt9 C T 11: 100,079,538 (GRCm39) G618E unknown Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mdn1 A G 4: 32,734,418 (GRCm39) D3275G probably benign Het
Mindy2 A T 9: 70,512,453 (GRCm39) V599E possibly damaging Het
Nelfa A G 5: 34,059,162 (GRCm39) V231A probably benign Het
Nepro T C 16: 44,555,156 (GRCm39) Y411H probably benign Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Nkx1-1 G T 5: 33,588,410 (GRCm39) Q293K possibly damaging Het
Nphp3 C T 9: 103,909,198 (GRCm39) H803Y probably benign Het
Obscn A G 11: 59,023,292 (GRCm39) V695A probably damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or12d15 G A 17: 37,693,910 (GRCm39) A151T probably damaging Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or2t48 T C 11: 58,419,903 (GRCm39) E303G probably benign Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Or8d2b A G 9: 38,789,400 (GRCm39) *309W probably null Het
Orai3 T A 7: 127,373,348 (GRCm39) L283Q probably damaging Het
Pcdhb13 A T 18: 37,576,237 (GRCm39) D205V probably benign Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pgm3 A G 9: 86,444,732 (GRCm39) S268P probably benign Het
Piezo2 A T 18: 63,207,751 (GRCm39) I1420N probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pik3c2g T C 6: 139,789,657 (GRCm39) Y385H possibly damaging Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Psmd13 T A 7: 140,466,766 (GRCm39) Y117* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Pum1 T G 4: 130,396,448 (GRCm39) S68A probably benign Het
Rnf167 T A 11: 70,540,701 (GRCm39) probably benign Het
Rnf213 T C 11: 119,318,983 (GRCm39) V1148A possibly damaging Het
Rnf216 T C 5: 143,076,071 (GRCm39) E271G probably benign Het
Ros1 A T 10: 52,031,087 (GRCm39) I506N probably damaging Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rpl41 A C 10: 128,384,576 (GRCm39) probably benign Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Sacs G T 14: 61,450,571 (GRCm39) A4206S probably damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,037,630 (GRCm39) probably benign Het
Slc39a3 A T 10: 80,866,796 (GRCm39) W317R probably damaging Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Snrpd1 T C 18: 10,626,835 (GRCm39) V34A probably benign Het
Spire2 T A 8: 124,083,583 (GRCm39) I189N probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Taar7b T A 10: 23,876,243 (GRCm39) F136Y probably benign Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tcp11l2 A G 10: 84,427,027 (GRCm39) I164V probably damaging Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tns4 G T 11: 98,966,039 (GRCm39) P448Q probably damaging Het
Trappc9 G T 15: 72,808,905 (GRCm39) N540K probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Usp45 A T 4: 21,815,372 (GRCm39) T362S probably damaging Het
Vcan A T 13: 89,836,961 (GRCm39) M2861K probably benign Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zbtb34 T A 2: 33,301,626 (GRCm39) Q305L probably benign Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp804b A T 5: 6,821,198 (GRCm39) S622T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D 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
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'- ATGTACTTCCATCCAGAGCAG -3'
(R):5'- AACCGCACTTAGTAAAGGTTGC -3'

Sequencing Primer
(F):5'- CTTCCATCCAGAGCAGTAATATTTAC -3'
(R):5'- AGGTTGCCCTTCTCCCAGG -3'
Posted On 2016-04-27