Incidental Mutation 'R6049:Cemip2'
ID 483480
Institutional Source Beutler Lab
Gene Symbol Cemip2
Ensembl Gene ENSMUSG00000024754
Gene Name cell migration inducing hyaluronidase 2
Synonyms 3110012M15Rik, Tmem2
MMRRC Submission 044217-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R6049 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 21755706-21835724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21803490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 841 (Q841L)
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: Q841L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: Q841L

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: Q841L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: Q841L

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 0.0734 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,088,520 (GRCm39) H229Y probably benign Het
Aadacl2fm2 A C 3: 59,659,570 (GRCm39) D341A probably damaging Het
Abcd2 A G 15: 91,062,439 (GRCm39) F500L probably benign Het
Adgb A G 10: 10,253,770 (GRCm39) L1190P probably damaging Het
Adgrv1 A G 13: 81,545,473 (GRCm39) V5604A probably benign Het
Ank2 T A 3: 126,736,669 (GRCm39) T3072S possibly damaging Het
Arhgap39 A G 15: 76,611,601 (GRCm39) probably null Het
C6 T C 15: 4,764,654 (GRCm39) C117R probably damaging Het
Cacna1a A G 8: 85,365,475 (GRCm39) E2206G probably damaging Het
Cd2bp2 A T 7: 126,793,007 (GRCm39) F338L probably damaging Het
Cngb1 T C 8: 95,997,470 (GRCm39) D575G probably damaging Het
Cplane2 T A 4: 140,945,473 (GRCm39) V108D probably benign Het
Crat A G 2: 30,293,553 (GRCm39) F63S probably damaging Het
Crybg3 T C 16: 59,364,417 (GRCm39) T2402A probably benign Het
Ctsq A G 13: 61,186,572 (GRCm39) probably null Het
Cux1 T C 5: 136,361,564 (GRCm39) R248G probably damaging Het
D7Ertd443e T C 7: 133,899,961 (GRCm39) H420R probably benign Het
Deup1 A G 9: 15,472,552 (GRCm39) F587L possibly damaging Het
Dnah6 T C 6: 73,063,149 (GRCm39) K2651R probably benign Het
Dnah7b A G 1: 46,124,762 (GRCm39) I144V probably benign Het
Dnajc1 T C 2: 18,236,511 (GRCm39) probably null Het
Fscb T C 12: 64,521,094 (GRCm39) N124S possibly damaging Het
Gabbr2 A G 4: 46,787,641 (GRCm39) Y341H probably damaging Het
Greb1 T A 12: 16,731,395 (GRCm39) I1648F probably damaging Het
Hace1 A T 10: 45,562,758 (GRCm39) N758Y probably damaging Het
Irs2 A C 8: 11,056,805 (GRCm39) D542E probably benign Het
Kat6a T A 8: 23,429,053 (GRCm39) H1469Q possibly damaging Het
Kif15 G A 9: 122,840,687 (GRCm39) R36K probably damaging Het
Krt42 C T 11: 100,157,886 (GRCm39) V193M probably damaging Het
Limch1 A T 5: 67,188,203 (GRCm39) E878V probably benign Het
Med18 G T 4: 132,187,024 (GRCm39) D158E probably benign Het
Med6 T C 12: 81,638,097 (GRCm39) N38S probably damaging Het
Mup13 T C 4: 61,183,596 (GRCm39) T76A probably benign Het
Nlrp4b T A 7: 10,448,640 (GRCm39) L281* probably null Het
Or5h23 A T 16: 58,906,509 (GRCm39) C112* probably null Het
Or7g28 C A 9: 19,272,640 (GRCm39) G4* probably null Het
Or9r3 A T 10: 129,948,481 (GRCm39) H59Q probably benign Het
Pde4d A T 13: 109,169,119 (GRCm39) R54* probably null Het
Pdpk1 A T 17: 24,317,109 (GRCm39) Y251* probably null Het
Pdzk1 A G 3: 96,758,979 (GRCm39) E128G probably benign Het
Phf12 A G 11: 77,918,996 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,748,884 (GRCm39) E63G possibly damaging Het
Prkcd T C 14: 30,329,254 (GRCm39) E62G possibly damaging Het
Prl7b1 G T 13: 27,790,161 (GRCm39) D77E probably benign Het
Rbck1 G T 2: 152,165,094 (GRCm39) C85* probably null Het
Rfx3 A T 19: 27,779,795 (GRCm39) M481K probably damaging Het
Rmdn3 A G 2: 118,983,906 (GRCm39) F159L probably damaging Het
Rpusd3 A C 6: 113,394,802 (GRCm39) probably null Het
Ska1 T C 18: 74,335,671 (GRCm39) T100A probably benign Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc27a6 T A 18: 58,731,732 (GRCm39) Y361N probably damaging Het
Smc1b A G 15: 85,005,896 (GRCm39) L336S probably damaging Het
St7 A G 6: 17,694,347 (GRCm39) D46G possibly damaging Het
Supt5 A G 7: 28,014,622 (GRCm39) I1059T probably benign Het
Syne1 A T 10: 5,297,926 (GRCm39) S1124T possibly damaging Het
Szt2 A G 4: 118,260,185 (GRCm39) S54P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tbc1d7 A C 13: 43,312,836 (GRCm39) M19R probably damaging Het
Tbpl2 T C 2: 23,985,004 (GRCm39) N47D possibly damaging Het
Tgfbr3 C T 5: 107,266,351 (GRCm39) A790T probably damaging Het
Tnr T C 1: 159,740,324 (GRCm39) V1166A probably damaging Het
Ttn G A 2: 76,676,654 (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
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'- TCCATCGTTGCTTGAGGCTAATC -3'
(R):5'- TAACAGTGAGTGCTGGTACCC -3'

Sequencing Primer
(F):5'- CATAGCATAAAAGCAATTTCTGAGGG -3'
(R):5'- CCAGACGGGAAAGAGCCAAAG -3'
Posted On 2017-07-14