Incidental Mutation 'R7859:Cemip2'
ID 607394
Institutional Source Beutler Lab
Gene Symbol Cemip2
Ensembl Gene ENSMUSG00000024754
Gene Name cell migration inducing hyaluronidase 2
Synonyms 3110012M15Rik, Tmem2
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 21755706-21835724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21809539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 973 (I973N)
Ref Sequence ENSEMBL: ENSMUSP00000025663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]
AlphaFold Q5FWI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000025663
AA Change: I973N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: I973N

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
G8 121 245 1.89e-44 SMART
Pfam:ILEI 265 360 2.1e-24 PFAM
Blast:PbH1 587 609 1e-6 BLAST
low complexity region 621 633 N/A INTRINSIC
PbH1 669 691 3.62e3 SMART
PbH1 711 733 1.84e3 SMART
PbH1 791 812 1.33e3 SMART
Pfam:ILEI 1243 1333 9e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000096194
AA Change: I973N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: I973N

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
G8 121 245 1.89e-44 SMART
Blast:PbH1 587 609 1e-6 BLAST
low complexity region 621 633 N/A INTRINSIC
PbH1 669 691 3.62e3 SMART
PbH1 711 733 1.84e3 SMART
PbH1 791 812 1.33e3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Cemip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Cemip2 APN 19 21,822,121 (GRCm39) missense possibly damaging 0.77
IGL01528:Cemip2 APN 19 21,812,909 (GRCm39) missense possibly damaging 0.95
IGL01642:Cemip2 APN 19 21,801,265 (GRCm39) missense probably damaging 1.00
IGL01693:Cemip2 APN 19 21,779,251 (GRCm39) missense probably benign 0.00
IGL02437:Cemip2 APN 19 21,789,342 (GRCm39) critical splice donor site probably null
IGL02869:Cemip2 APN 19 21,789,241 (GRCm39) missense probably damaging 0.99
IGL02880:Cemip2 APN 19 21,801,207 (GRCm39) missense possibly damaging 0.68
IGL02904:Cemip2 APN 19 21,801,207 (GRCm39) missense possibly damaging 0.68
IGL02941:Cemip2 APN 19 21,801,207 (GRCm39) missense possibly damaging 0.68
IGL02950:Cemip2 APN 19 21,819,564 (GRCm39) missense probably benign 0.07
IGL03066:Cemip2 APN 19 21,801,207 (GRCm39) missense possibly damaging 0.68
IGL03120:Cemip2 APN 19 21,801,207 (GRCm39) missense possibly damaging 0.68
R0005:Cemip2 UTSW 19 21,789,584 (GRCm39) missense probably damaging 0.98
R0496:Cemip2 UTSW 19 21,774,709 (GRCm39) missense possibly damaging 0.89
R0557:Cemip2 UTSW 19 21,789,267 (GRCm39) missense probably benign 0.05
R0620:Cemip2 UTSW 19 21,795,335 (GRCm39) missense probably benign
R1271:Cemip2 UTSW 19 21,801,268 (GRCm39) missense possibly damaging 0.92
R1435:Cemip2 UTSW 19 21,822,070 (GRCm39) missense probably benign
R1543:Cemip2 UTSW 19 21,789,937 (GRCm39) missense probably benign 0.03
R1558:Cemip2 UTSW 19 21,775,346 (GRCm39) nonsense probably null
R1658:Cemip2 UTSW 19 21,779,243 (GRCm39) missense probably damaging 1.00
R1744:Cemip2 UTSW 19 21,809,501 (GRCm39) nonsense probably null
R1859:Cemip2 UTSW 19 21,825,341 (GRCm39) missense possibly damaging 0.56
R1943:Cemip2 UTSW 19 21,825,404 (GRCm39) splice site probably null
R2001:Cemip2 UTSW 19 21,779,351 (GRCm39) missense probably benign 0.43
R2021:Cemip2 UTSW 19 21,822,114 (GRCm39) missense possibly damaging 0.91
R2177:Cemip2 UTSW 19 21,789,149 (GRCm39) missense possibly damaging 0.80
R2183:Cemip2 UTSW 19 21,801,157 (GRCm39) missense possibly damaging 0.81
R2921:Cemip2 UTSW 19 21,795,303 (GRCm39) missense possibly damaging 0.80
R2922:Cemip2 UTSW 19 21,795,303 (GRCm39) missense possibly damaging 0.80
R2923:Cemip2 UTSW 19 21,795,303 (GRCm39) missense possibly damaging 0.80
R3727:Cemip2 UTSW 19 21,822,075 (GRCm39) missense probably benign
R3730:Cemip2 UTSW 19 21,803,481 (GRCm39) missense probably damaging 0.97
R3790:Cemip2 UTSW 19 21,784,816 (GRCm39) missense probably damaging 1.00
R3831:Cemip2 UTSW 19 21,825,315 (GRCm39) missense probably damaging 0.97
R3858:Cemip2 UTSW 19 21,829,598 (GRCm39) missense probably benign 0.01
R3859:Cemip2 UTSW 19 21,829,598 (GRCm39) missense probably benign 0.01
R3899:Cemip2 UTSW 19 21,829,598 (GRCm39) missense probably benign 0.01
R4096:Cemip2 UTSW 19 21,770,016 (GRCm39) start codon destroyed probably null 0.99
R4206:Cemip2 UTSW 19 21,819,479 (GRCm39) missense probably damaging 1.00
R4480:Cemip2 UTSW 19 21,792,853 (GRCm39) missense probably benign 0.03
R4667:Cemip2 UTSW 19 21,822,145 (GRCm39) missense probably benign
R4667:Cemip2 UTSW 19 21,774,715 (GRCm39) missense probably benign 0.00
R4888:Cemip2 UTSW 19 21,833,528 (GRCm39) missense probably benign 0.00
R4914:Cemip2 UTSW 19 21,786,653 (GRCm39) missense probably benign 0.00
R5030:Cemip2 UTSW 19 21,819,469 (GRCm39) missense probably benign
R5329:Cemip2 UTSW 19 21,775,693 (GRCm39) missense probably benign 0.30
R5977:Cemip2 UTSW 19 21,803,447 (GRCm39) missense probably benign 0.01
R6013:Cemip2 UTSW 19 21,809,403 (GRCm39) missense possibly damaging 0.89
R6049:Cemip2 UTSW 19 21,803,490 (GRCm39) missense probably benign
R6199:Cemip2 UTSW 19 21,822,186 (GRCm39) missense probably benign 0.05
R6215:Cemip2 UTSW 19 21,789,751 (GRCm39) missense probably benign 0.02
R6273:Cemip2 UTSW 19 21,779,369 (GRCm39) missense probably damaging 1.00
R6429:Cemip2 UTSW 19 21,779,272 (GRCm39) missense probably benign 0.14
R6547:Cemip2 UTSW 19 21,822,195 (GRCm39) missense probably benign 0.01
R6630:Cemip2 UTSW 19 21,829,593 (GRCm39) missense probably damaging 0.99
R6870:Cemip2 UTSW 19 21,809,487 (GRCm39) missense possibly damaging 0.91
R7276:Cemip2 UTSW 19 21,812,824 (GRCm39) missense probably benign 0.14
R7336:Cemip2 UTSW 19 21,803,509 (GRCm39) nonsense probably null
R7363:Cemip2 UTSW 19 21,833,575 (GRCm39) missense probably benign
R7678:Cemip2 UTSW 19 21,775,480 (GRCm39) missense probably damaging 1.00
R7727:Cemip2 UTSW 19 21,807,321 (GRCm39) missense probably benign 0.00
R7820:Cemip2 UTSW 19 21,784,825 (GRCm39) missense probably damaging 0.98
R7837:Cemip2 UTSW 19 21,775,385 (GRCm39) missense probably benign 0.40
R7954:Cemip2 UTSW 19 21,770,264 (GRCm39) missense probably damaging 1.00
R7964:Cemip2 UTSW 19 21,775,794 (GRCm39) critical splice donor site probably null
R8058:Cemip2 UTSW 19 21,829,695 (GRCm39) missense probably benign 0.12
R8251:Cemip2 UTSW 19 21,784,765 (GRCm39) missense possibly damaging 0.82
R8746:Cemip2 UTSW 19 21,803,465 (GRCm39) missense probably damaging 1.00
R8820:Cemip2 UTSW 19 21,784,818 (GRCm39) missense probably damaging 0.99
R8931:Cemip2 UTSW 19 21,770,323 (GRCm39) missense probably benign 0.01
R9022:Cemip2 UTSW 19 21,789,986 (GRCm39) critical splice donor site probably null
R9354:Cemip2 UTSW 19 21,779,389 (GRCm39) missense probably benign 0.00
R9480:Cemip2 UTSW 19 21,775,622 (GRCm39) missense possibly damaging 0.64
R9495:Cemip2 UTSW 19 21,779,249 (GRCm39) missense probably damaging 0.99
R9593:Cemip2 UTSW 19 21,803,453 (GRCm39) missense probably damaging 1.00
R9705:Cemip2 UTSW 19 21,784,788 (GRCm39) missense probably damaging 0.96
R9740:Cemip2 UTSW 19 21,822,105 (GRCm39) missense probably benign 0.00
Z1177:Cemip2 UTSW 19 21,833,093 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCTTCTCCATTGCCAGG -3'
(R):5'- ACTAAGTTCCACTGCTGGTTTGC -3'

Sequencing Primer
(F):5'- ATTGCCAGGTCTCTCTGAACG -3'
(R):5'- GGGAGATTTTAGTAAAACATTCTCCC -3'
Posted On 2019-12-20