Incidental Mutation 'R5889:Frem3'
ID 456224
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5889 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80611080-80695356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80614288 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1070 (V1070A)
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039695
AA Change: V1070A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V1070A

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
Meta Mutation Damage Score 0.1932 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,354,449 (GRCm38) E297G probably damaging Het
Astn1 C T 1: 158,600,380 (GRCm38) P707L possibly damaging Het
Cep290 T C 10: 100,499,074 (GRCm38) S319P possibly damaging Het
Chrna4 A C 2: 181,028,658 (GRCm38) L435W probably damaging Het
Cilp C A 9: 65,280,343 (GRCm38) A1240D possibly damaging Het
Col17a1 A G 19: 47,649,072 (GRCm38) F1249S possibly damaging Het
Creb3l3 T C 10: 81,092,533 (GRCm38) probably benign Het
Cyp4f40 C A 17: 32,675,757 (GRCm38) T432N probably benign Het
Dsg1c T G 18: 20,283,601 (GRCm38) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,621,423 (GRCm38) D34E probably damaging Het
Edc4 C T 8: 105,888,022 (GRCm38) T112I possibly damaging Het
Enpep T A 3: 129,312,578 (GRCm38) Y333F probably damaging Het
Exoc6 A G 19: 37,582,245 (GRCm38) H291R probably damaging Het
Fbln5 G T 12: 101,765,226 (GRCm38) N236K probably damaging Het
Fndc8 A T 11: 82,898,729 (GRCm38) T238S probably damaging Het
Gabra4 A T 5: 71,571,891 (GRCm38) N515K possibly damaging Het
Gemin5 A G 11: 58,122,355 (GRCm38) V1422A possibly damaging Het
Gm10118 A G 10: 63,927,111 (GRCm38) probably benign Het
Grm5 A G 7: 87,603,073 (GRCm38) D177G probably damaging Het
Gtf2h4 G A 17: 35,670,900 (GRCm38) P147L possibly damaging Het
Hgsnat T C 8: 25,963,367 (GRCm38) D265G probably damaging Het
Hsd17b4 T A 18: 50,177,209 (GRCm38) L513Q probably damaging Het
Hsd17b7 A T 1: 169,955,918 (GRCm38) M307K probably benign Het
Hspa5 T C 2: 34,774,617 (GRCm38) V361A probably damaging Het
Iqgap2 A G 13: 95,632,042 (GRCm38) V1450A probably benign Het
Itpr3 A G 17: 27,115,065 (GRCm38) E2037G probably damaging Het
Lama5 T C 2: 180,193,674 (GRCm38) probably benign Het
Manba G T 3: 135,524,598 (GRCm38) G311* probably null Het
Mettl24 T A 10: 40,746,490 (GRCm38) V236E probably benign Het
Myh3 A G 11: 67,086,375 (GRCm38) D310G probably damaging Het
Ncoa4 A T 14: 32,166,659 (GRCm38) probably benign Het
Nop56 G T 2: 130,275,982 (GRCm38) R126L probably damaging Het
Nos3 C A 5: 24,368,777 (GRCm38) probably benign Het
Olfr156 T C 4: 43,820,492 (GRCm38) M290V possibly damaging Het
Pcdhga3 T A 18: 37,676,609 (GRCm38) V705D probably damaging Het
Prom2 C T 2: 127,529,411 (GRCm38) A776T possibly damaging Het
Prss48 A G 3: 85,998,185 (GRCm38) I127T probably damaging Het
Rtca T C 3: 116,499,583 (GRCm38) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm38) Y267C probably damaging Het
Scube3 A G 17: 28,160,913 (GRCm38) R272G possibly damaging Het
Sprr1a G T 3: 92,484,644 (GRCm38) H17N probably benign Het
Ssfa2 T A 2: 79,657,728 (GRCm38) D718E probably damaging Het
Stard3 G C 11: 98,375,535 (GRCm38) Q120H probably benign Het
Supt6 A G 11: 78,212,748 (GRCm38) I1377T probably damaging Het
Svop A T 5: 114,065,631 (GRCm38) S30T probably benign Het
Syne2 T A 12: 76,072,252 (GRCm38) L5882* probably null Het
Tanc2 G T 11: 105,921,807 (GRCm38) R1359L probably benign Het
Tmc7 A C 7: 118,566,326 (GRCm38) L55R probably benign Het
Trappc11 G A 8: 47,519,578 (GRCm38) A320V probably benign Het
Ttll8 G C 15: 88,933,939 (GRCm38) P178A probably damaging Het
Ttn T C 2: 76,730,649 (GRCm38) E20809G probably damaging Het
Tubb2a A T 13: 34,075,468 (GRCm38) V113E possibly damaging Het
Ube2d1 A T 10: 71,259,869 (GRCm38) probably benign Het
Usp48 T C 4: 137,616,412 (GRCm38) V452A probably benign Het
Vldlr T A 19: 27,239,664 (GRCm38) I39N probably damaging Het
Wbp1l C T 19: 46,654,180 (GRCm38) R191* probably null Het
Zyg11b C T 4: 108,237,380 (GRCm38) W669* probably null 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
IGL02140:Frem3 APN 8 80,614,107 (GRCm38) missense possibly damaging 0.84
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
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
Predicted Primers PCR Primer
(F):5'- GGGCAGTCAGCTATGTTCACAC -3'
(R):5'- TAATTGATGCACCCCACTCG -3'

Sequencing Primer
(F):5'- CAGTCAGCTATGTTCACACTAGTGG -3'
(R):5'- CATCCTTGACGAAGAAGGCACTG -3'
Posted On 2017-02-15