Incidental Mutation 'R0620:Cemip2'
ID 58641
Institutional Source Beutler Lab
Gene Symbol Cemip2
Ensembl Gene ENSMUSG00000024754
Gene Name cell migration inducing hyaluronidase 2
Synonyms 3110012M15Rik, Tmem2
MMRRC Submission 038809-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R0620 (G1)
Quality Score 218
Status Validated
Chromosome 19
Chromosomal Location 21755706-21835724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21795335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 743 (S743T)
Ref Sequence ENSEMBL: ENSMUSP00000093908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]
AlphaFold Q5FWI3
Predicted Effect probably benign
Transcript: ENSMUST00000025663
AA Change: S743T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: S743T

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 probably benign
Transcript: ENSMUST00000096194
AA Change: S743T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: S743T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,835,094 (GRCm39) T679A possibly damaging Het
Ahr T C 12: 35,558,193 (GRCm39) T276A probably benign Het
Akap9 A T 5: 4,114,136 (GRCm39) Q3138H probably damaging Het
Armt1 T A 10: 4,382,689 (GRCm39) F7I probably benign Het
B3galt2 A G 1: 143,521,878 (GRCm39) R5G probably damaging Het
Bod1l T C 5: 41,958,576 (GRCm39) N2750S probably benign Het
Cadps2 T A 6: 23,583,395 (GRCm39) E365V probably damaging Het
Cd200r3 T A 16: 44,778,080 (GRCm39) probably null Het
Cst7 T A 2: 150,417,806 (GRCm39) probably benign Het
Defb30 A T 14: 63,287,212 (GRCm39) probably benign Het
Dido1 C T 2: 180,301,644 (GRCm39) G2087S probably benign Het
Dio2 A G 12: 90,704,845 (GRCm39) Y72H probably benign Het
Dnah11 C T 12: 117,951,204 (GRCm39) E3035K probably damaging Het
Dnajb13 T C 7: 100,152,456 (GRCm39) K287E possibly damaging Het
Dnajc11 G A 4: 152,058,085 (GRCm39) V244I possibly damaging Het
Ect2 C T 3: 27,193,801 (GRCm39) A226T probably damaging Het
Ercc8 G A 13: 108,310,595 (GRCm39) probably null Het
Fam120b T A 17: 15,623,189 (GRCm39) M389K probably benign Het
Fam151a A G 4: 106,605,128 (GRCm39) M497V probably benign Het
Fam186b C A 15: 99,178,009 (GRCm39) G439V probably benign Het
Fank1 A G 7: 133,478,494 (GRCm39) Y185C probably damaging Het
Gart T C 16: 91,427,490 (GRCm39) probably benign Het
Glb1l T C 1: 75,176,364 (GRCm39) Y572C probably damaging Het
Gm11563 C T 11: 99,549,263 (GRCm39) A164T unknown Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gsdmc3 T A 15: 63,731,542 (GRCm39) D330V probably damaging Het
H2-DMa C T 17: 34,356,934 (GRCm39) T144M probably damaging Het
Haus6 A T 4: 86,501,751 (GRCm39) F707I possibly damaging Het
Hmcn1 T A 1: 150,469,767 (GRCm39) T4971S probably benign Het
Ints6 A T 14: 62,934,208 (GRCm39) F766L probably benign Het
Kdm5d T A Y: 927,330 (GRCm39) M650K probably damaging Het
Kif21b T C 1: 136,087,166 (GRCm39) F881S possibly damaging Het
Klrk1 C A 6: 129,591,598 (GRCm39) Q176H possibly damaging Het
Ky T C 9: 102,414,820 (GRCm39) V244A probably benign Het
Mia2 T A 12: 59,201,205 (GRCm39) L191M possibly damaging Het
Miga2 T A 2: 30,271,756 (GRCm39) probably benign Het
Mtss2 C T 8: 111,464,580 (GRCm39) P322S probably damaging Het
Nalcn A G 14: 123,536,553 (GRCm39) probably benign Het
Ncbp3 T A 11: 72,940,671 (GRCm39) probably benign Het
Nprl3 G A 11: 32,184,876 (GRCm39) L378F probably damaging Het
Ntrk2 A T 13: 58,994,635 (GRCm39) M184L probably benign Het
Or11g1 G T 14: 50,651,154 (GRCm39) C51F probably benign Het
Or9e1 T G 11: 58,732,269 (GRCm39) C110G probably damaging Het
Osbpl9 T C 4: 108,940,325 (GRCm39) E287G probably damaging Het
Parva T C 7: 112,175,618 (GRCm39) F250L probably damaging Het
Pcdhb11 C T 18: 37,554,864 (GRCm39) Q65* probably null Het
Phtf1 A G 3: 103,901,081 (GRCm39) T377A probably damaging Het
Pkp4 G A 2: 59,152,987 (GRCm39) V612I possibly damaging Het
Plscr2 C A 9: 92,169,707 (GRCm39) S52R probably benign Het
Pnisr C T 4: 21,874,092 (GRCm39) probably benign Het
Pole2 A C 12: 69,256,653 (GRCm39) S291A probably damaging Het
Ppp2r5d A G 17: 46,994,944 (GRCm39) F586L probably benign Het
Prrx1 G A 1: 163,085,385 (GRCm39) R182C probably damaging Het
Ptprs A G 17: 56,736,103 (GRCm39) I110T possibly damaging Het
Rasgrf2 G A 13: 92,067,936 (GRCm39) probably benign Het
Resf1 A T 6: 149,229,873 (GRCm39) Q973L probably damaging Het
Riox2 T C 16: 59,312,255 (GRCm39) V464A probably benign Het
Robo2 A G 16: 73,764,690 (GRCm39) V646A possibly damaging Het
Ros1 T A 10: 51,994,444 (GRCm39) I1279F probably damaging Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Snx7 T C 3: 117,640,324 (GRCm39) N62D probably damaging Het
Sp100 G A 1: 85,587,588 (GRCm39) probably null Het
Stil A T 4: 114,864,356 (GRCm39) I86L possibly damaging Het
Tbc1d16 T A 11: 119,099,864 (GRCm39) D170V probably benign Het
Trappc13 G A 13: 104,297,589 (GRCm39) T105M probably damaging Het
Trhr T A 15: 44,092,896 (GRCm39) S378T probably benign Het
Ttc7b T C 12: 100,466,332 (GRCm39) probably null Het
Vegfc A T 8: 54,610,174 (GRCm39) Y110F probably benign Het
Vmn1r184 C A 7: 25,966,602 (GRCm39) P116H possibly damaging Het
Vmn2r5 A T 3: 64,411,235 (GRCm39) C444* probably null Het
Zfp341 A G 2: 154,476,193 (GRCm39) E460G possibly damaging Het
Zfp819 T A 7: 43,265,868 (GRCm39) V41E 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
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
R7859:Cemip2 UTSW 19 21,809,539 (GRCm39) missense possibly damaging 0.95
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'- GAGCTGTCACCTCTCTGCTTGG -3'
(R):5'- GCCATCAACTTCCTCGGCATTTCAG -3'

Sequencing Primer
(F):5'- ggctaatcaccatgtaaaaCATTAAG -3'
(R):5'- GAAAGATAAATGCCTTTATGTGAGC -3'
Posted On 2013-07-11