Incidental Mutation 'R5202:Frem2'
ID 400857
Institutional Source Beutler Lab
Gene Symbol Frem2
Ensembl Gene ENSMUSG00000037016
Gene Name Fras1 related extracellular matrix protein 2
Synonyms 8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my
MMRRC Submission 042777-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5202 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 53421359-53564776 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53458767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2034 (V2034A)
Ref Sequence ENSEMBL: ENSMUSP00000088670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091137]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091137
AA Change: V2034A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: V2034A

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
Pfam:Cadherin_3 249 388 4.3e-9 PFAM
Pfam:Cadherin_3 376 532 3e-34 PFAM
Pfam:Cadherin_3 516 665 7.5e-24 PFAM
Pfam:Cadherin_3 632 798 1.6e-21 PFAM
Pfam:Cadherin_3 763 910 1.2e-25 PFAM
Pfam:Cadherin_3 879 1027 5.1e-18 PFAM
Pfam:Cadherin_3 1015 1159 2.2e-20 PFAM
CA 1202 1293 4.8e-1 SMART
Pfam:Cadherin_3 1392 1503 9.8e-24 PFAM
Pfam:Cadherin_3 1504 1612 6.2e-28 PFAM
Pfam:Cadherin_3 1613 1743 5.3e-20 PFAM
Calx_beta 1748 1847 1.5e-5 SMART
Calx_beta 1860 1971 9.47e-12 SMART
Calx_beta 1985 2092 1.65e-11 SMART
Calx_beta 2105 2209 1.99e-5 SMART
Calx_beta 2227 2331 6.9e-14 SMART
transmembrane domain 3103 3125 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,562,308 (GRCm39) M312L probably benign Het
Adam7 C A 14: 68,745,305 (GRCm39) D640Y possibly damaging Het
Alcam T C 16: 52,094,599 (GRCm39) Y384C probably damaging Het
Apob A G 12: 8,063,737 (GRCm39) E289G probably damaging Het
Arhgap15 A T 2: 43,953,869 (GRCm39) R198S probably benign Het
Bbs2 G T 8: 94,819,042 (GRCm39) S109* probably null Het
Bfsp1 T C 2: 143,668,891 (GRCm39) S569G probably benign Het
Chst9 A T 18: 15,586,296 (GRCm39) I89N probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Csde1 T G 3: 102,947,250 (GRCm39) D67E probably damaging Het
Csf2rb T G 15: 78,233,257 (GRCm39) S855A possibly damaging Het
Cyp4a10 T A 4: 115,389,812 (GRCm39) D472E probably damaging Het
Cyp4f18 C A 8: 72,762,940 (GRCm39) R49L probably benign Het
Daam1 G T 12: 71,991,048 (GRCm39) V221L unknown Het
Dbr1 T G 9: 99,465,944 (GRCm39) D507E probably benign Het
Dhrs7c A G 11: 67,706,627 (GRCm39) M188V probably benign Het
Dicer1 A T 12: 104,660,990 (GRCm39) L1688* probably null Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
E2f3 G A 13: 30,102,619 (GRCm39) T91I probably damaging Het
Etaa1 A T 11: 17,897,853 (GRCm39) V157E probably damaging Het
Foxp2 A T 6: 15,394,770 (GRCm39) T157S probably benign Het
Fzd10 T C 5: 128,679,180 (GRCm39) V300A possibly damaging Het
Gbf1 A T 19: 46,256,893 (GRCm39) M778L probably benign Het
Gm17472 T A 6: 42,958,068 (GRCm39) N112K probably benign Het
Gria4 T C 9: 4,424,330 (GRCm39) K845R probably benign Het
Hspa4l T A 3: 40,736,001 (GRCm39) S541T probably benign Het
Igkv4-68 G A 6: 69,281,926 (GRCm39) R82C probably damaging Het
Itgb1 A T 8: 129,446,491 (GRCm39) I383F probably damaging Het
Kcnk12 T A 17: 88,054,033 (GRCm39) K210* probably null Het
Limch1 C G 5: 67,150,516 (GRCm39) D163E probably damaging Het
Mbd4 A T 6: 115,826,363 (GRCm39) D188E probably damaging Het
Myh9 C T 15: 77,665,310 (GRCm39) probably null Het
Nbeal2 T C 9: 110,473,734 (GRCm39) E28G probably damaging Het
Nfatc4 A G 14: 56,064,116 (GRCm39) E201G probably damaging Het
Nrap G A 19: 56,323,583 (GRCm39) H1330Y probably damaging Het
Nudt14 A G 12: 112,898,648 (GRCm39) S151P probably damaging Het
Or14c45 C A 7: 86,176,324 (GRCm39) R120S probably damaging Het
Or2ag2 T A 7: 106,485,803 (GRCm39) T74S possibly damaging Het
Or7e165 T A 9: 19,694,514 (GRCm39) F28L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paqr9 A G 9: 95,442,163 (GRCm39) D51G probably damaging Het
Pcgf5 T A 19: 36,414,583 (GRCm39) F80I probably damaging Het
Pkhd1 T G 1: 20,617,565 (GRCm39) S1007R probably benign Het
Rab30 T C 7: 92,485,121 (GRCm39) Y196H probably benign Het
Setd2 A T 9: 110,380,298 (GRCm39) D1371V probably damaging Het
Slc48a1 A T 15: 97,688,581 (GRCm39) I140F possibly damaging Het
Sorl1 A G 9: 41,944,879 (GRCm39) V882A probably benign Het
Sptbn2 G T 19: 4,774,212 (GRCm39) G88W probably damaging Het
Tdrd12 A G 7: 35,189,455 (GRCm39) V427A possibly damaging Het
Tekt2 T C 4: 126,218,463 (GRCm39) D69G probably benign Het
Tie1 C T 4: 118,337,707 (GRCm39) V463I probably benign Het
Tmem150c G T 5: 100,227,813 (GRCm39) H217N probably damaging Het
Tnks2 G A 19: 36,866,252 (GRCm39) G1080R probably damaging Het
Ttll4 G A 1: 74,727,011 (GRCm39) probably null Het
Other mutations in Frem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Frem2 APN 3 53,493,016 (GRCm39) missense probably damaging 1.00
IGL00911:Frem2 APN 3 53,479,883 (GRCm39) missense probably damaging 1.00
IGL01322:Frem2 APN 3 53,448,459 (GRCm39) missense probably benign 0.00
IGL01330:Frem2 APN 3 53,562,662 (GRCm39) missense possibly damaging 0.70
IGL01406:Frem2 APN 3 53,433,317 (GRCm39) missense probably damaging 1.00
IGL01556:Frem2 APN 3 53,442,702 (GRCm39) missense probably benign 0.23
IGL01580:Frem2 APN 3 53,562,596 (GRCm39) missense probably damaging 1.00
IGL01606:Frem2 APN 3 53,561,012 (GRCm39) missense possibly damaging 0.69
IGL01611:Frem2 APN 3 53,563,130 (GRCm39) missense probably benign 0.00
IGL01648:Frem2 APN 3 53,443,153 (GRCm39) missense possibly damaging 0.86
IGL01663:Frem2 APN 3 53,424,434 (GRCm39) missense probably damaging 1.00
IGL01665:Frem2 APN 3 53,457,083 (GRCm39) missense probably benign 0.07
IGL01670:Frem2 APN 3 53,564,358 (GRCm39) missense possibly damaging 0.95
IGL01960:Frem2 APN 3 53,429,725 (GRCm39) missense probably benign 0.33
IGL02175:Frem2 APN 3 53,563,020 (GRCm39) missense possibly damaging 0.69
IGL02201:Frem2 APN 3 53,427,061 (GRCm39) missense probably benign 0.35
IGL02202:Frem2 APN 3 53,562,220 (GRCm39) missense probably benign 0.00
IGL02427:Frem2 APN 3 53,443,184 (GRCm39) missense probably damaging 0.97
IGL02457:Frem2 APN 3 53,428,470 (GRCm39) missense probably damaging 0.99
IGL02638:Frem2 APN 3 53,458,767 (GRCm39) missense possibly damaging 0.94
IGL02801:Frem2 APN 3 53,559,596 (GRCm39) missense possibly damaging 0.85
IGL03023:Frem2 APN 3 53,563,049 (GRCm39) missense probably benign 0.40
IGL03169:Frem2 APN 3 53,429,713 (GRCm39) missense probably benign 0.01
IGL03238:Frem2 APN 3 53,563,682 (GRCm39) missense possibly damaging 0.93
IGL03251:Frem2 APN 3 53,479,729 (GRCm39) missense probably benign 0.01
IGL03273:Frem2 APN 3 53,444,930 (GRCm39) nonsense probably null
IGL03343:Frem2 APN 3 53,559,674 (GRCm39) missense probably damaging 1.00
Biosimilar UTSW 3 53,561,744 (GRCm39) missense probably benign 0.01
Fruit_stripe UTSW 3 53,444,910 (GRCm39) missense probably benign 0.21
PIT4366001:Frem2 UTSW 3 53,560,622 (GRCm39) missense probably damaging 0.98
R0019:Frem2 UTSW 3 53,431,099 (GRCm39) missense probably damaging 0.99
R0092:Frem2 UTSW 3 53,497,217 (GRCm39) missense probably benign 0.03
R0108:Frem2 UTSW 3 53,555,382 (GRCm39) missense probably benign 0.03
R0115:Frem2 UTSW 3 53,563,629 (GRCm39) missense probably damaging 0.99
R0118:Frem2 UTSW 3 53,442,664 (GRCm39) nonsense probably null
R0374:Frem2 UTSW 3 53,561,381 (GRCm39) missense probably damaging 1.00
R0437:Frem2 UTSW 3 53,560,436 (GRCm39) missense possibly damaging 0.96
R0531:Frem2 UTSW 3 53,427,375 (GRCm39) missense probably damaging 1.00
R0555:Frem2 UTSW 3 53,424,281 (GRCm39) missense probably damaging 0.97
R0564:Frem2 UTSW 3 53,563,530 (GRCm39) missense probably damaging 0.97
R0586:Frem2 UTSW 3 53,555,342 (GRCm39) missense probably damaging 0.99
R0726:Frem2 UTSW 3 53,427,047 (GRCm39) missense possibly damaging 0.89
R0925:Frem2 UTSW 3 53,561,394 (GRCm39) missense probably benign
R1233:Frem2 UTSW 3 53,455,199 (GRCm39) missense probably damaging 0.98
R1302:Frem2 UTSW 3 53,562,959 (GRCm39) missense probably benign 0.00
R1333:Frem2 UTSW 3 53,457,152 (GRCm39) missense probably benign 0.26
R1446:Frem2 UTSW 3 53,562,017 (GRCm39) missense probably benign 0.31
R1523:Frem2 UTSW 3 53,562,828 (GRCm39) missense possibly damaging 0.73
R1539:Frem2 UTSW 3 53,561,631 (GRCm39) missense probably benign 0.19
R1543:Frem2 UTSW 3 53,479,876 (GRCm39) missense possibly damaging 0.86
R1597:Frem2 UTSW 3 53,561,940 (GRCm39) missense probably benign 0.19
R1600:Frem2 UTSW 3 53,455,144 (GRCm39) missense probably damaging 1.00
R1678:Frem2 UTSW 3 53,427,359 (GRCm39) missense probably damaging 1.00
R1687:Frem2 UTSW 3 53,561,373 (GRCm39) missense probably benign
R1696:Frem2 UTSW 3 53,563,463 (GRCm39) nonsense probably null
R1758:Frem2 UTSW 3 53,560,778 (GRCm39) missense probably damaging 1.00
R1857:Frem2 UTSW 3 53,562,294 (GRCm39) missense probably benign 0.10
R1869:Frem2 UTSW 3 53,442,617 (GRCm39) missense probably benign 0.04
R1921:Frem2 UTSW 3 53,560,916 (GRCm39) missense possibly damaging 0.76
R1973:Frem2 UTSW 3 53,559,653 (GRCm39) missense probably benign 0.01
R2045:Frem2 UTSW 3 53,443,165 (GRCm39) missense probably damaging 1.00
R2113:Frem2 UTSW 3 53,560,343 (GRCm39) missense probably damaging 1.00
R2152:Frem2 UTSW 3 53,424,450 (GRCm39) nonsense probably null
R2164:Frem2 UTSW 3 53,444,751 (GRCm39) missense probably damaging 1.00
R2181:Frem2 UTSW 3 53,482,008 (GRCm39) missense possibly damaging 0.72
R2201:Frem2 UTSW 3 53,423,994 (GRCm39) missense probably benign
R2221:Frem2 UTSW 3 53,424,278 (GRCm39) missense probably benign 0.00
R2255:Frem2 UTSW 3 53,559,935 (GRCm39) missense probably damaging 0.96
R2280:Frem2 UTSW 3 53,479,844 (GRCm39) missense probably damaging 1.00
R3196:Frem2 UTSW 3 53,444,752 (GRCm39) missense probably damaging 1.00
R3716:Frem2 UTSW 3 53,479,781 (GRCm39) missense probably damaging 1.00
R3807:Frem2 UTSW 3 53,560,870 (GRCm39) missense probably benign 0.22
R3820:Frem2 UTSW 3 53,424,270 (GRCm39) missense probably damaging 1.00
R3821:Frem2 UTSW 3 53,559,836 (GRCm39) missense probably damaging 1.00
R3977:Frem2 UTSW 3 53,559,491 (GRCm39) missense probably benign 0.00
R3979:Frem2 UTSW 3 53,559,491 (GRCm39) missense probably benign 0.00
R4014:Frem2 UTSW 3 53,559,774 (GRCm39) missense probably benign 0.01
R4127:Frem2 UTSW 3 53,433,317 (GRCm39) missense probably damaging 1.00
R4195:Frem2 UTSW 3 53,446,689 (GRCm39) missense possibly damaging 0.90
R4196:Frem2 UTSW 3 53,446,689 (GRCm39) missense possibly damaging 0.90
R4374:Frem2 UTSW 3 53,452,923 (GRCm39) missense possibly damaging 0.61
R4427:Frem2 UTSW 3 53,446,583 (GRCm39) critical splice donor site probably null
R4428:Frem2 UTSW 3 53,561,759 (GRCm39) missense probably benign 0.40
R4559:Frem2 UTSW 3 53,561,742 (GRCm39) missense probably benign 0.01
R4600:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4602:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4610:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4611:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4661:Frem2 UTSW 3 53,562,864 (GRCm39) missense probably damaging 1.00
R4678:Frem2 UTSW 3 53,451,792 (GRCm39) missense probably benign 0.00
R4689:Frem2 UTSW 3 53,455,056 (GRCm39) missense probably benign 0.43
R4740:Frem2 UTSW 3 53,443,240 (GRCm39) missense probably benign 0.04
R4748:Frem2 UTSW 3 53,448,514 (GRCm39) missense probably damaging 1.00
R4790:Frem2 UTSW 3 53,424,162 (GRCm39) missense probably benign
R4809:Frem2 UTSW 3 53,561,316 (GRCm39) missense probably benign 0.01
R4930:Frem2 UTSW 3 53,563,736 (GRCm39) missense possibly damaging 0.93
R4971:Frem2 UTSW 3 53,446,604 (GRCm39) missense probably damaging 1.00
R5057:Frem2 UTSW 3 53,442,617 (GRCm39) missense probably benign 0.37
R5221:Frem2 UTSW 3 53,493,032 (GRCm39) missense probably damaging 1.00
R5231:Frem2 UTSW 3 53,429,716 (GRCm39) missense probably damaging 1.00
R5268:Frem2 UTSW 3 53,560,575 (GRCm39) missense probably damaging 0.96
R5480:Frem2 UTSW 3 53,563,928 (GRCm39) nonsense probably null
R5637:Frem2 UTSW 3 53,560,358 (GRCm39) missense probably damaging 0.97
R5664:Frem2 UTSW 3 53,559,911 (GRCm39) missense probably benign 0.33
R5698:Frem2 UTSW 3 53,559,926 (GRCm39) missense possibly damaging 0.89
R5744:Frem2 UTSW 3 53,563,380 (GRCm39) missense probably damaging 1.00
R5754:Frem2 UTSW 3 53,444,679 (GRCm39) missense probably damaging 1.00
R5808:Frem2 UTSW 3 53,559,984 (GRCm39) missense probably damaging 0.96
R5840:Frem2 UTSW 3 53,555,342 (GRCm39) missense probably damaging 0.99
R5874:Frem2 UTSW 3 53,444,910 (GRCm39) missense probably benign 0.21
R6050:Frem2 UTSW 3 53,560,433 (GRCm39) missense probably damaging 0.99
R6103:Frem2 UTSW 3 53,457,209 (GRCm39) missense probably benign 0.00
R6149:Frem2 UTSW 3 53,458,762 (GRCm39) missense probably damaging 0.98
R6182:Frem2 UTSW 3 53,555,390 (GRCm39) missense probably damaging 1.00
R6191:Frem2 UTSW 3 53,562,701 (GRCm39) missense probably benign 0.10
R6245:Frem2 UTSW 3 53,563,245 (GRCm39) missense probably benign 0.00
R6252:Frem2 UTSW 3 53,479,869 (GRCm39) missense probably damaging 1.00
R6393:Frem2 UTSW 3 53,493,061 (GRCm39) missense possibly damaging 0.91
R6416:Frem2 UTSW 3 53,479,799 (GRCm39) missense probably benign 0.01
R6595:Frem2 UTSW 3 53,457,205 (GRCm39) missense probably damaging 1.00
R6665:Frem2 UTSW 3 53,562,077 (GRCm39) missense probably damaging 1.00
R6708:Frem2 UTSW 3 53,492,922 (GRCm39) missense probably benign 0.00
R6751:Frem2 UTSW 3 53,561,086 (GRCm39) missense probably damaging 1.00
R6787:Frem2 UTSW 3 53,561,744 (GRCm39) missense probably benign 0.01
R6913:Frem2 UTSW 3 53,424,242 (GRCm39) missense probably damaging 1.00
R6916:Frem2 UTSW 3 53,455,109 (GRCm39) missense probably damaging 1.00
R7017:Frem2 UTSW 3 53,427,023 (GRCm39) missense probably benign 0.02
R7083:Frem2 UTSW 3 53,444,914 (GRCm39) missense probably damaging 0.99
R7108:Frem2 UTSW 3 53,560,934 (GRCm39) missense probably damaging 1.00
R7133:Frem2 UTSW 3 53,479,760 (GRCm39) missense possibly damaging 0.82
R7326:Frem2 UTSW 3 53,562,174 (GRCm39) missense probably damaging 1.00
R7341:Frem2 UTSW 3 53,561,916 (GRCm39) missense probably damaging 1.00
R7455:Frem2 UTSW 3 53,479,701 (GRCm39) splice site probably null
R7487:Frem2 UTSW 3 53,561,970 (GRCm39) missense probably benign 0.40
R7495:Frem2 UTSW 3 53,424,258 (GRCm39) missense probably benign 0.13
R7542:Frem2 UTSW 3 53,560,000 (GRCm39) missense probably damaging 1.00
R7636:Frem2 UTSW 3 53,560,668 (GRCm39) missense probably benign 0.00
R7703:Frem2 UTSW 3 53,429,589 (GRCm39) missense probably benign 0.01
R7750:Frem2 UTSW 3 53,431,103 (GRCm39) missense possibly damaging 0.83
R7849:Frem2 UTSW 3 53,479,795 (GRCm39) missense probably damaging 1.00
R7922:Frem2 UTSW 3 53,560,725 (GRCm39) missense probably damaging 0.98
R8008:Frem2 UTSW 3 53,560,331 (GRCm39) missense probably damaging 1.00
R8051:Frem2 UTSW 3 53,442,776 (GRCm39) missense probably benign 0.04
R8052:Frem2 UTSW 3 53,457,064 (GRCm39) missense probably benign 0.02
R8176:Frem2 UTSW 3 53,562,761 (GRCm39) missense possibly damaging 0.50
R8220:Frem2 UTSW 3 53,563,928 (GRCm39) nonsense probably null
R8397:Frem2 UTSW 3 53,560,562 (GRCm39) missense probably benign 0.00
R8410:Frem2 UTSW 3 53,446,598 (GRCm39) missense possibly damaging 0.60
R8697:Frem2 UTSW 3 53,433,249 (GRCm39) missense probably damaging 0.99
R9134:Frem2 UTSW 3 53,562,321 (GRCm39) missense probably damaging 1.00
R9183:Frem2 UTSW 3 53,427,486 (GRCm39) missense probably damaging 1.00
R9260:Frem2 UTSW 3 53,560,204 (GRCm39) missense probably damaging 1.00
R9267:Frem2 UTSW 3 53,564,504 (GRCm39) start codon destroyed probably null 0.00
R9299:Frem2 UTSW 3 53,563,980 (GRCm39) missense probably benign 0.37
R9378:Frem2 UTSW 3 53,559,410 (GRCm39) missense probably damaging 0.99
R9444:Frem2 UTSW 3 53,560,265 (GRCm39) missense probably benign 0.10
R9459:Frem2 UTSW 3 53,560,907 (GRCm39) missense probably benign
R9487:Frem2 UTSW 3 53,560,905 (GRCm39) missense possibly damaging 0.95
R9728:Frem2 UTSW 3 53,564,052 (GRCm39) missense probably benign 0.00
R9759:Frem2 UTSW 3 53,562,918 (GRCm39) missense possibly damaging 0.76
Z1177:Frem2 UTSW 3 53,563,028 (GRCm39) missense probably benign 0.31
Z1177:Frem2 UTSW 3 53,442,587 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCACGATTCTGATGTTACAAC -3'
(R):5'- CGTGTCATGTGCGTCATCTC -3'

Sequencing Primer
(F):5'- CGGTAAAGTCTAAATTCGCGTACTC -3'
(R):5'- CATGTGCGTCATCTCAGGGG -3'
Posted On 2016-07-06