Incidental Mutation 'IGL02140:Frem3'
ID 281508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02140
Quality Score
Status
Chromosome 8
Chromosomal Location 80611080-80695356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80614107 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1010 (V1010F)
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039695
AA Change: V1010F

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V1010F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cadherin_3 369 515 9.5e-31 PFAM
Pfam:Cadherin_3 495 596 9.4e-20 PFAM
Pfam:Cadherin_3 637 786 4.2e-20 PFAM
Pfam:Cadherin_3 788 913 5.5e-23 PFAM
Pfam:Cadherin_3 998 1163 1.8e-20 PFAM
Pfam:Cadherin_3 1129 1254 1.3e-19 PFAM
Pfam:Cadherin_3 1250 1395 9.5e-34 PFAM
Pfam:Cadherin_3 1397 1508 2.7e-21 PFAM
Pfam:Cadherin_3 1493 1617 1.2e-27 PFAM
Pfam:Cadherin_3 1622 1748 4.8e-17 PFAM
Calx_beta 1754 1853 1.45e-7 SMART
Calx_beta 1866 1977 3.35e-12 SMART
Calx_beta 1991 2098 1.61e-5 SMART
Coding Region Coverage
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 protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 (GRCm38) V144I probably benign Het
B3gat1 A G 9: 26,757,747 (GRCm38) K325E possibly damaging Het
Cd36 T A 5: 17,828,768 (GRCm38) probably benign Het
Ces3a A G 8: 105,055,631 (GRCm38) E325G probably benign Het
Col1a2 G A 6: 4,515,639 (GRCm38) G136D unknown Het
Cyp3a25 T G 5: 146,009,463 (GRCm38) probably benign Het
Cyp3a59 T C 5: 146,102,880 (GRCm38) L321P probably damaging Het
Dag1 A G 9: 108,218,192 (GRCm38) S34P probably damaging Het
Defa27 A T 8: 21,315,658 (GRCm38) K13* probably null Het
Disp2 T C 2: 118,790,869 (GRCm38) F694S probably benign Het
Dnah12 G T 14: 26,716,577 (GRCm38) A454S probably benign Het
Dync2h1 A T 9: 7,147,791 (GRCm38) D946E probably benign Het
Fcgbp A G 7: 28,091,954 (GRCm38) E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 (GRCm38) V371A probably benign Het
Gm13283 G A 4: 88,761,035 (GRCm38) V88I probably benign Het
Gm5134 G A 10: 75,986,111 (GRCm38) V260I probably benign Het
Grhl2 A G 15: 37,270,586 (GRCm38) probably benign Het
Hectd1 A T 12: 51,774,137 (GRCm38) W1090R probably damaging Het
Hydin G A 8: 110,566,938 (GRCm38) V3506I probably benign Het
Igkc C T 6: 70,726,575 (GRCm38) R47* probably null Het
Iglv3 T A 16: 19,241,410 (GRCm38) Q56L probably damaging Het
Impg2 T A 16: 56,259,468 (GRCm38) M436K probably benign Het
Kcnma1 T A 14: 23,309,045 (GRCm38) K1110N probably damaging Het
Marf1 T C 16: 14,141,912 (GRCm38) E694G probably damaging Het
Nup37 A C 10: 88,158,929 (GRCm38) K118T probably benign Het
Or10al7 A G 17: 38,055,590 (GRCm38) M1T probably null Het
Or4a73 T C 2: 89,590,242 (GRCm38) E291G probably damaging Het
P3h1 A G 4: 119,237,865 (GRCm38) D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 (GRCm38) D178G probably benign Het
Phyhipl T C 10: 70,570,830 (GRCm38) K53R probably damaging Het
Pkp3 T G 7: 141,089,336 (GRCm38) L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 (GRCm38) V429A probably benign Het
Rgl2 A G 17: 33,933,124 (GRCm38) N295S probably damaging Het
Spag5 A T 11: 78,315,633 (GRCm38) D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 (GRCm38) T232K probably benign Het
Thumpd1 A G 7: 119,717,009 (GRCm38) V239A possibly damaging Het
Timd4 T A 11: 46,820,014 (GRCm38) S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 (GRCm38) N82K probably benign Het
Ttn T A 2: 76,708,213 (GRCm38) T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 (GRCm38) V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 (GRCm38) S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 (GRCm38) F159S probably damaging Het
Wdr72 A T 9: 74,210,223 (GRCm38) Q739L probably benign Het
Other mutations in Frem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Frem3 APN 8 80,668,810 (GRCm38) missense possibly damaging 0.75
IGL01019:Frem3 APN 8 80,615,134 (GRCm38) missense probably benign 0.02
IGL01470:Frem3 APN 8 80,614,315 (GRCm38) missense probably damaging 1.00
IGL01609:Frem3 APN 8 80,612,704 (GRCm38) missense probably benign 0.00
IGL01622:Frem3 APN 8 80,613,915 (GRCm38) missense probably benign 0.01
IGL01623:Frem3 APN 8 80,613,915 (GRCm38) missense probably benign 0.01
IGL01751:Frem3 APN 8 80,615,743 (GRCm38) missense probably benign 0.33
IGL02037:Frem3 APN 8 80,611,489 (GRCm38) missense probably benign 0.31
IGL02039:Frem3 APN 8 80,612,971 (GRCm38) missense probably damaging 1.00
IGL02084:Frem3 APN 8 80,612,443 (GRCm38) missense possibly damaging 0.95
IGL02124:Frem3 APN 8 80,613,094 (GRCm38) missense probably damaging 0.99
IGL02836:Frem3 APN 8 80,614,381 (GRCm38) missense probably benign
IGL03090:Frem3 APN 8 80,618,229 (GRCm38) missense probably benign 0.01
IGL03102:Frem3 APN 8 80,613,032 (GRCm38) missense possibly damaging 0.92
IGL03116:Frem3 APN 8 80,612,806 (GRCm38) missense possibly damaging 0.84
IGL03165:Frem3 APN 8 80,612,529 (GRCm38) missense probably benign 0.26
IGL03224:Frem3 APN 8 80,613,463 (GRCm38) missense probably damaging 1.00
IGL03401:Frem3 APN 8 80,614,541 (GRCm38) missense probably damaging 1.00
IGL03403:Frem3 APN 8 80,611,090 (GRCm38) missense probably benign 0.04
FR4340:Frem3 UTSW 8 80,615,241 (GRCm38) small insertion probably benign
FR4976:Frem3 UTSW 8 80,615,241 (GRCm38) small insertion probably benign
IGL02991:Frem3 UTSW 8 80,668,882 (GRCm38) missense probably damaging 1.00
IGL03052:Frem3 UTSW 8 80,614,530 (GRCm38) missense probably damaging 1.00
R0089:Frem3 UTSW 8 80,615,878 (GRCm38) missense possibly damaging 0.94
R0647:Frem3 UTSW 8 80,615,185 (GRCm38) missense probably damaging 1.00
R0690:Frem3 UTSW 8 80,613,952 (GRCm38) missense possibly damaging 0.84
R0766:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R0834:Frem3 UTSW 8 80,687,008 (GRCm38) missense probably damaging 1.00
R0909:Frem3 UTSW 8 80,663,406 (GRCm38) missense probably benign 0.45
R1033:Frem3 UTSW 8 80,695,157 (GRCm38) missense probably benign 0.00
R1144:Frem3 UTSW 8 80,611,884 (GRCm38) missense probably benign 0.01
R1312:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R1330:Frem3 UTSW 8 80,668,839 (GRCm38) missense probably damaging 0.99
R1355:Frem3 UTSW 8 80,690,702 (GRCm38) missense probably damaging 1.00
R1390:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.99
R1413:Frem3 UTSW 8 80,668,801 (GRCm38) missense probably benign
R1470:Frem3 UTSW 8 80,611,191 (GRCm38) missense probably benign 0.05
R1470:Frem3 UTSW 8 80,611,191 (GRCm38) missense probably benign 0.05
R1503:Frem3 UTSW 8 80,687,018 (GRCm38) missense probably damaging 0.99
R1538:Frem3 UTSW 8 80,613,135 (GRCm38) missense probably benign 0.00
R1538:Frem3 UTSW 8 80,612,710 (GRCm38) missense probably damaging 1.00
R1612:Frem3 UTSW 8 80,614,861 (GRCm38) missense probably damaging 1.00
R1793:Frem3 UTSW 8 80,613,112 (GRCm38) missense probably benign 0.03
R1872:Frem3 UTSW 8 80,612,576 (GRCm38) missense probably damaging 1.00
R1879:Frem3 UTSW 8 80,611,938 (GRCm38) nonsense probably null
R1886:Frem3 UTSW 8 80,613,885 (GRCm38) missense probably benign 0.00
R1933:Frem3 UTSW 8 80,612,890 (GRCm38) missense probably benign 0.00
R2027:Frem3 UTSW 8 80,695,337 (GRCm38) missense possibly damaging 0.75
R2040:Frem3 UTSW 8 80,615,826 (GRCm38) missense possibly damaging 0.92
R2050:Frem3 UTSW 8 80,614,891 (GRCm38) missense probably damaging 1.00
R2079:Frem3 UTSW 8 80,615,103 (GRCm38) missense probably benign 0.03
R2099:Frem3 UTSW 8 80,615,859 (GRCm38) missense probably benign 0.06
R2120:Frem3 UTSW 8 80,615,457 (GRCm38) missense probably benign 0.20
R2842:Frem3 UTSW 8 80,669,349 (GRCm38) splice site probably null
R2845:Frem3 UTSW 8 80,613,220 (GRCm38) missense probably damaging 1.00
R3015:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.99
R3442:Frem3 UTSW 8 80,613,040 (GRCm38) missense probably damaging 1.00
R3724:Frem3 UTSW 8 80,615,271 (GRCm38) missense probably benign 0.06
R3730:Frem3 UTSW 8 80,615,916 (GRCm38) missense probably damaging 0.99
R3939:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R3940:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R3941:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R4089:Frem3 UTSW 8 80,615,173 (GRCm38) missense probably damaging 1.00
R4282:Frem3 UTSW 8 80,614,141 (GRCm38) missense probably benign 0.00
R4437:Frem3 UTSW 8 80,612,607 (GRCm38) missense probably benign 0.30
R4480:Frem3 UTSW 8 80,611,357 (GRCm38) missense probably benign 0.10
R4575:Frem3 UTSW 8 80,616,075 (GRCm38) missense probably benign 0.17
R4583:Frem3 UTSW 8 80,613,514 (GRCm38) missense probably benign 0.03
R4620:Frem3 UTSW 8 80,668,957 (GRCm38) missense possibly damaging 0.82
R4621:Frem3 UTSW 8 80,669,191 (GRCm38) splice site probably null
R4644:Frem3 UTSW 8 80,613,727 (GRCm38) missense probably benign 0.33
R4667:Frem3 UTSW 8 80,663,420 (GRCm38) missense probably damaging 0.97
R4748:Frem3 UTSW 8 80,611,459 (GRCm38) missense probably damaging 1.00
R4823:Frem3 UTSW 8 80,613,958 (GRCm38) missense probably benign 0.25
R4836:Frem3 UTSW 8 80,663,397 (GRCm38) missense probably damaging 0.99
R4867:Frem3 UTSW 8 80,613,283 (GRCm38) missense probably damaging 1.00
R4921:Frem3 UTSW 8 80,613,136 (GRCm38) missense possibly damaging 0.83
R5030:Frem3 UTSW 8 80,613,247 (GRCm38) missense possibly damaging 0.89
R5035:Frem3 UTSW 8 80,615,914 (GRCm38) missense probably damaging 0.97
R5172:Frem3 UTSW 8 80,612,566 (GRCm38) missense probably benign 0.44
R5289:Frem3 UTSW 8 80,612,319 (GRCm38) missense probably benign 0.00
R5492:Frem3 UTSW 8 80,612,677 (GRCm38) missense probably damaging 1.00
R5655:Frem3 UTSW 8 80,612,694 (GRCm38) missense probably benign 0.00
R5685:Frem3 UTSW 8 80,695,303 (GRCm38) missense probably damaging 1.00
R5723:Frem3 UTSW 8 80,613,397 (GRCm38) missense probably benign 0.02
R5743:Frem3 UTSW 8 80,615,778 (GRCm38) missense probably damaging 0.98
R5889:Frem3 UTSW 8 80,614,288 (GRCm38) missense probably damaging 1.00
R6048:Frem3 UTSW 8 80,613,433 (GRCm38) missense probably benign 0.03
R6057:Frem3 UTSW 8 80,615,587 (GRCm38) missense probably damaging 0.99
R6137:Frem3 UTSW 8 80,615,047 (GRCm38) missense probably benign
R6264:Frem3 UTSW 8 80,615,203 (GRCm38) missense probably damaging 1.00
R6339:Frem3 UTSW 8 80,613,015 (GRCm38) missense possibly damaging 0.84
R6418:Frem3 UTSW 8 80,611,152 (GRCm38) missense probably benign 0.08
R6680:Frem3 UTSW 8 80,669,320 (GRCm38) missense probably damaging 1.00
R6773:Frem3 UTSW 8 80,611,815 (GRCm38) missense probably damaging 1.00
R6838:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R6928:Frem3 UTSW 8 80,611,282 (GRCm38) missense possibly damaging 0.48
R6939:Frem3 UTSW 8 80,615,145 (GRCm38) missense probably benign 0.23
R6995:Frem3 UTSW 8 80,612,579 (GRCm38) missense probably damaging 0.98
R7112:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R7155:Frem3 UTSW 8 80,616,039 (GRCm38) missense probably benign 0.01
R7235:Frem3 UTSW 8 80,690,725 (GRCm38) missense probably benign 0.00
R7282:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R7403:Frem3 UTSW 8 80,616,145 (GRCm38) missense probably damaging 1.00
R7422:Frem3 UTSW 8 80,615,763 (GRCm38) missense probably benign 0.00
R7485:Frem3 UTSW 8 80,613,336 (GRCm38) missense probably damaging 1.00
R7516:Frem3 UTSW 8 80,612,083 (GRCm38) missense probably damaging 0.99
R7858:Frem3 UTSW 8 80,611,721 (GRCm38) nonsense probably null
R7976:Frem3 UTSW 8 80,611,602 (GRCm38) nonsense probably null
R8171:Frem3 UTSW 8 80,615,240 (GRCm38) missense probably damaging 1.00
R8185:Frem3 UTSW 8 80,612,304 (GRCm38) nonsense probably null
R8306:Frem3 UTSW 8 80,612,211 (GRCm38) missense possibly damaging 0.95
R8478:Frem3 UTSW 8 80,611,558 (GRCm38) missense probably damaging 1.00
R8518:Frem3 UTSW 8 80,612,595 (GRCm38) missense probably damaging 1.00
R8794:Frem3 UTSW 8 80,616,222 (GRCm38) missense probably benign 0.02
R8794:Frem3 UTSW 8 80,612,278 (GRCm38) missense probably damaging 1.00
R8806:Frem3 UTSW 8 80,663,435 (GRCm38) missense probably benign 0.30
R8833:Frem3 UTSW 8 80,612,772 (GRCm38) missense probably benign 0.29
R8879:Frem3 UTSW 8 80,613,148 (GRCm38) missense probably damaging 0.98
R8897:Frem3 UTSW 8 80,612,790 (GRCm38) missense probably damaging 1.00
R8983:Frem3 UTSW 8 80,669,246 (GRCm38) missense probably damaging 1.00
R9207:Frem3 UTSW 8 80,613,442 (GRCm38) missense possibly damaging 0.73
R9277:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.96
R9536:Frem3 UTSW 8 80,615,419 (GRCm38) missense probably benign 0.00
R9596:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R9649:Frem3 UTSW 8 80,614,516 (GRCm38) missense probably damaging 1.00
R9671:Frem3 UTSW 8 80,612,505 (GRCm38) missense probably benign 0.00
R9723:Frem3 UTSW 8 80,614,723 (GRCm38) missense probably benign
R9790:Frem3 UTSW 8 80,613,261 (GRCm38) missense probably benign 0.01
R9791:Frem3 UTSW 8 80,613,261 (GRCm38) missense probably benign 0.01
RF030:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
RF034:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
RF042:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
X0024:Frem3 UTSW 8 80,613,081 (GRCm38) missense possibly damaging 0.76
X0027:Frem3 UTSW 8 80,612,388 (GRCm38) nonsense probably null
Z1088:Frem3 UTSW 8 80,615,426 (GRCm38) missense probably benign 0.04
Z1176:Frem3 UTSW 8 80,615,431 (GRCm38) missense probably benign 0.03
Z1176:Frem3 UTSW 8 80,611,503 (GRCm38) missense probably damaging 0.99
Z1177:Frem3 UTSW 8 80,616,129 (GRCm38) missense possibly damaging 0.81
Posted On 2015-04-16