Incidental Mutation 'R2021:Cemip2'
ID 224054
Institutional Source Beutler Lab
Gene Symbol Cemip2
Ensembl Gene ENSMUSG00000024754
Gene Name cell migration inducing hyaluronidase 2
Synonyms 3110012M15Rik, Tmem2
MMRRC Submission 040030-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R2021 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 21778342-21858327 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21844750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1170 (A1170T)
Ref Sequence ENSEMBL: ENSMUSP00000093908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]
AlphaFold Q5FWI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000025663
AA Change: A1170T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: A1170T

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: A1170T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: A1170T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,931,451 (GRCm38) S462P probably damaging Het
Ablim1 A T 19: 57,047,018 (GRCm38) S316T probably damaging Het
Alox8 C T 11: 69,186,288 (GRCm38) V460I probably damaging Het
Arvcf G A 16: 18,399,732 (GRCm38) A491T probably damaging Het
Asnsd1 A G 1: 53,347,227 (GRCm38) S414P possibly damaging Het
Btbd7 A G 12: 102,790,709 (GRCm38) L706P probably damaging Het
Camk2d T A 3: 126,780,456 (GRCm38) W171R probably damaging Het
Casc3 T A 11: 98,821,506 (GRCm38) S124T probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm38) V1211A probably benign Het
Ccdc182 T C 11: 88,294,136 (GRCm38) V14A possibly damaging Het
Ccdc80 A T 16: 45,122,912 (GRCm38) Q795L probably damaging Het
Ccdc88a T G 11: 29,503,480 (GRCm38) S1614R probably damaging Het
Clcn6 A G 4: 148,010,652 (GRCm38) probably null Het
Cubn A G 2: 13,308,549 (GRCm38) V3070A probably benign Het
Dst G A 1: 34,166,291 (GRCm38) V1025I possibly damaging Het
Dynlt4 A G 4: 117,128,307 (GRCm38) E109G possibly damaging Het
Elk3 T A 10: 93,265,677 (GRCm38) I71F probably damaging Het
Flt3 A T 5: 147,369,490 (GRCm38) I276N probably damaging Het
Frem1 G T 4: 82,913,558 (GRCm38) T1988K probably benign Het
Golph3l T A 3: 95,617,357 (GRCm38) D306E probably benign Het
Grk2 T A 19: 4,290,670 (GRCm38) I254F probably damaging Het
Hgf C T 5: 16,576,921 (GRCm38) T214I probably benign Het
Hoxc5 C A 15: 103,014,382 (GRCm38) probably null Het
Hsd11b1 T C 1: 193,240,378 (GRCm38) T124A probably benign Het
Ipp A G 4: 116,515,368 (GRCm38) Y198C probably benign Het
Ism1 T A 2: 139,740,127 (GRCm38) probably null Het
Klhl42 A G 6: 147,091,896 (GRCm38) Y122C possibly damaging Het
Klk1b21 A T 7: 44,105,994 (GRCm38) K206* probably null Het
Lcn11 A G 2: 25,778,085 (GRCm38) K85R probably benign Het
Macf1 G T 4: 123,472,730 (GRCm38) A2746E probably damaging Het
Matn4 A G 2: 164,400,653 (GRCm38) V175A probably damaging Het
Myh2 A T 11: 67,191,719 (GRCm38) N1372Y probably damaging Het
Ncl A G 1: 86,356,955 (GRCm38) probably null Het
Nudt2 A G 4: 41,480,255 (GRCm38) D46G probably damaging Het
Obscn C T 11: 59,067,174 (GRCm38) D3567N probably benign Het
Or1j17 G C 2: 36,688,475 (GRCm38) V158L probably benign Het
Or2z9 G T 8: 72,100,086 (GRCm38) V109F possibly damaging Het
Or4a72 A T 2: 89,574,961 (GRCm38) M255K possibly damaging Het
Pamr1 T A 2: 102,634,535 (GRCm38) M343K probably benign Het
Pcdh15 T G 10: 74,631,193 (GRCm38) S1684A possibly damaging Het
Ppm1h T A 10: 122,878,528 (GRCm38) L324* probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm38) I76V probably benign Het
Prkdc G A 16: 15,677,009 (GRCm38) V748I probably benign Het
Prss47 A G 13: 65,051,777 (GRCm38) V96A probably benign Het
Rsbn1 C T 3: 103,914,473 (GRCm38) T8I probably benign Het
Rsf1 GGCG GGCGACGGCGGCG 7: 97,579,906 (GRCm38) probably benign Het
Serpinb3d A G 1: 107,078,452 (GRCm38) V302A probably benign Het
Sfrp4 A T 13: 19,632,326 (GRCm38) I177F probably benign Het
Sh3bp2 A G 5: 34,544,225 (GRCm38) probably benign Het
Slc7a12 A G 3: 14,497,333 (GRCm38) T257A probably damaging Het
Spata31e5 A T 1: 28,778,153 (GRCm38) V266D probably damaging Het
Specc1l T C 10: 75,267,591 (GRCm38) probably null Het
Stard9 A G 2: 120,704,235 (GRCm38) T3658A probably benign Het
Styxl2 A T 1: 166,100,823 (GRCm38) W407R probably benign Het
Tmem30c T C 16: 57,281,362 (GRCm38) T68A probably damaging Het
Tnr A G 1: 159,852,022 (GRCm38) I189V probably benign Het
Trrap A G 5: 144,853,488 (GRCm38) N3586S possibly damaging Het
Usp14 T C 18: 10,024,632 (GRCm38) T22A probably damaging Het
Vmn1r68 A G 7: 10,527,991 (GRCm38) L60P probably damaging Het
Vmn2r108 G A 17: 20,470,990 (GRCm38) H424Y probably benign Het
Wdr81 C A 11: 75,445,962 (GRCm38) E1534* probably null Het
Zc3h13 A G 14: 75,330,195 (GRCm38) E976G probably damaging Het
Zfp128 T C 7: 12,890,029 (GRCm38) L108P possibly damaging Het
Zfp644 T C 5: 106,635,682 (GRCm38) I1000V possibly damaging Het
Other mutations in Cemip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Cemip2 APN 19 21,844,757 (GRCm38) missense possibly damaging 0.77
IGL01528:Cemip2 APN 19 21,835,545 (GRCm38) missense possibly damaging 0.95
IGL01642:Cemip2 APN 19 21,823,901 (GRCm38) missense probably damaging 1.00
IGL01693:Cemip2 APN 19 21,801,887 (GRCm38) missense probably benign 0.00
IGL02437:Cemip2 APN 19 21,811,978 (GRCm38) critical splice donor site probably null
IGL02869:Cemip2 APN 19 21,811,877 (GRCm38) missense probably damaging 0.99
IGL02880:Cemip2 APN 19 21,823,843 (GRCm38) missense possibly damaging 0.68
IGL02904:Cemip2 APN 19 21,823,843 (GRCm38) missense possibly damaging 0.68
IGL02941:Cemip2 APN 19 21,823,843 (GRCm38) missense possibly damaging 0.68
IGL02950:Cemip2 APN 19 21,842,200 (GRCm38) missense probably benign 0.07
IGL03066:Cemip2 APN 19 21,823,843 (GRCm38) missense possibly damaging 0.68
IGL03120:Cemip2 APN 19 21,823,843 (GRCm38) missense possibly damaging 0.68
R0005:Cemip2 UTSW 19 21,812,220 (GRCm38) missense probably damaging 0.98
R0496:Cemip2 UTSW 19 21,797,345 (GRCm38) missense possibly damaging 0.89
R0557:Cemip2 UTSW 19 21,811,903 (GRCm38) missense probably benign 0.05
R0620:Cemip2 UTSW 19 21,817,971 (GRCm38) missense probably benign
R1271:Cemip2 UTSW 19 21,823,904 (GRCm38) missense possibly damaging 0.92
R1435:Cemip2 UTSW 19 21,844,706 (GRCm38) missense probably benign
R1543:Cemip2 UTSW 19 21,812,573 (GRCm38) missense probably benign 0.03
R1558:Cemip2 UTSW 19 21,797,982 (GRCm38) nonsense probably null
R1658:Cemip2 UTSW 19 21,801,879 (GRCm38) missense probably damaging 1.00
R1744:Cemip2 UTSW 19 21,832,137 (GRCm38) nonsense probably null
R1859:Cemip2 UTSW 19 21,847,977 (GRCm38) missense possibly damaging 0.56
R1943:Cemip2 UTSW 19 21,848,040 (GRCm38) splice site probably null
R2001:Cemip2 UTSW 19 21,801,987 (GRCm38) missense probably benign 0.43
R2177:Cemip2 UTSW 19 21,811,785 (GRCm38) missense possibly damaging 0.80
R2183:Cemip2 UTSW 19 21,823,793 (GRCm38) missense possibly damaging 0.81
R2921:Cemip2 UTSW 19 21,817,939 (GRCm38) missense possibly damaging 0.80
R2922:Cemip2 UTSW 19 21,817,939 (GRCm38) missense possibly damaging 0.80
R2923:Cemip2 UTSW 19 21,817,939 (GRCm38) missense possibly damaging 0.80
R3727:Cemip2 UTSW 19 21,844,711 (GRCm38) missense probably benign
R3730:Cemip2 UTSW 19 21,826,117 (GRCm38) missense probably damaging 0.97
R3790:Cemip2 UTSW 19 21,807,452 (GRCm38) missense probably damaging 1.00
R3831:Cemip2 UTSW 19 21,847,951 (GRCm38) missense probably damaging 0.97
R3858:Cemip2 UTSW 19 21,852,234 (GRCm38) missense probably benign 0.01
R3859:Cemip2 UTSW 19 21,852,234 (GRCm38) missense probably benign 0.01
R3899:Cemip2 UTSW 19 21,852,234 (GRCm38) missense probably benign 0.01
R4096:Cemip2 UTSW 19 21,792,652 (GRCm38) start codon destroyed probably null 0.99
R4206:Cemip2 UTSW 19 21,842,115 (GRCm38) missense probably damaging 1.00
R4480:Cemip2 UTSW 19 21,815,489 (GRCm38) missense probably benign 0.03
R4667:Cemip2 UTSW 19 21,844,781 (GRCm38) missense probably benign
R4667:Cemip2 UTSW 19 21,797,351 (GRCm38) missense probably benign 0.00
R4888:Cemip2 UTSW 19 21,856,164 (GRCm38) missense probably benign 0.00
R4914:Cemip2 UTSW 19 21,809,289 (GRCm38) missense probably benign 0.00
R5030:Cemip2 UTSW 19 21,842,105 (GRCm38) missense probably benign
R5329:Cemip2 UTSW 19 21,798,329 (GRCm38) missense probably benign 0.30
R5977:Cemip2 UTSW 19 21,826,083 (GRCm38) missense probably benign 0.01
R6013:Cemip2 UTSW 19 21,832,039 (GRCm38) missense possibly damaging 0.89
R6049:Cemip2 UTSW 19 21,826,126 (GRCm38) missense probably benign
R6199:Cemip2 UTSW 19 21,844,822 (GRCm38) missense probably benign 0.05
R6215:Cemip2 UTSW 19 21,812,387 (GRCm38) missense probably benign 0.02
R6273:Cemip2 UTSW 19 21,802,005 (GRCm38) missense probably damaging 1.00
R6429:Cemip2 UTSW 19 21,801,908 (GRCm38) missense probably benign 0.14
R6547:Cemip2 UTSW 19 21,844,831 (GRCm38) missense probably benign 0.01
R6630:Cemip2 UTSW 19 21,852,229 (GRCm38) missense probably damaging 0.99
R6870:Cemip2 UTSW 19 21,832,123 (GRCm38) missense possibly damaging 0.91
R7276:Cemip2 UTSW 19 21,835,460 (GRCm38) missense probably benign 0.14
R7336:Cemip2 UTSW 19 21,826,145 (GRCm38) nonsense probably null
R7363:Cemip2 UTSW 19 21,856,211 (GRCm38) missense probably benign
R7678:Cemip2 UTSW 19 21,798,116 (GRCm38) missense probably damaging 1.00
R7727:Cemip2 UTSW 19 21,829,957 (GRCm38) missense probably benign 0.00
R7820:Cemip2 UTSW 19 21,807,461 (GRCm38) missense probably damaging 0.98
R7837:Cemip2 UTSW 19 21,798,021 (GRCm38) missense probably benign 0.40
R7859:Cemip2 UTSW 19 21,832,175 (GRCm38) missense possibly damaging 0.95
R7954:Cemip2 UTSW 19 21,792,900 (GRCm38) missense probably damaging 1.00
R7964:Cemip2 UTSW 19 21,798,430 (GRCm38) critical splice donor site probably null
R8058:Cemip2 UTSW 19 21,852,331 (GRCm38) missense probably benign 0.12
R8251:Cemip2 UTSW 19 21,807,401 (GRCm38) missense possibly damaging 0.82
R8746:Cemip2 UTSW 19 21,826,101 (GRCm38) missense probably damaging 1.00
R8820:Cemip2 UTSW 19 21,807,454 (GRCm38) missense probably damaging 0.99
R8931:Cemip2 UTSW 19 21,792,959 (GRCm38) missense probably benign 0.01
R9022:Cemip2 UTSW 19 21,812,622 (GRCm38) critical splice donor site probably null
R9354:Cemip2 UTSW 19 21,802,025 (GRCm38) missense probably benign 0.00
R9480:Cemip2 UTSW 19 21,798,258 (GRCm38) missense possibly damaging 0.64
R9495:Cemip2 UTSW 19 21,801,885 (GRCm38) missense probably damaging 0.99
R9593:Cemip2 UTSW 19 21,826,089 (GRCm38) missense probably damaging 1.00
R9705:Cemip2 UTSW 19 21,807,424 (GRCm38) missense probably damaging 0.96
R9740:Cemip2 UTSW 19 21,844,741 (GRCm38) missense probably benign 0.00
Z1177:Cemip2 UTSW 19 21,855,729 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCGAAATATCCCCTTGGC -3'
(R):5'- GCATGGATAGATGTTTCAAAGCC -3'

Sequencing Primer
(F):5'- CCCTTGGCCATGAATCAAGTTGAG -3'
(R):5'- GGATAGATGTTTCAAAGCCATGTGC -3'
Posted On 2014-08-25