Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Frem3'

641074

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

067792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81337709-81421985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81338840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 378 (K378E)

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: K378E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: K378E

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,321,903 (GRCm39)	D519E	probably benign	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,335,722 (GRCm39)	I972V	probably damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,358,714 (GRCm39)	K231R	probably benign	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,380,985 (GRCm39)	V507L	probably benign	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb20	A	C	16: 43,439,100 (GRCm39)	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	probably damaging	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	81,395,439 (GRCm39)	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	81,341,763 (GRCm39)	missense	probably benign	0.02
IGL01470:Frem3	APN	8	81,340,944 (GRCm39)	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	81,339,333 (GRCm39)	missense	probably benign	0.00
IGL01622:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01623:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01751:Frem3	APN	8	81,342,372 (GRCm39)	missense	probably benign	0.33
IGL02037:Frem3	APN	8	81,338,118 (GRCm39)	missense	probably benign	0.31
IGL02039:Frem3	APN	8	81,339,600 (GRCm39)	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	81,339,072 (GRCm39)	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	81,339,723 (GRCm39)	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	81,340,736 (GRCm39)	missense	possibly damaging	0.84
IGL02836:Frem3	APN	8	81,341,010 (GRCm39)	missense	probably benign
IGL03090:Frem3	APN	8	81,344,858 (GRCm39)	missense	probably benign	0.01
IGL03102:Frem3	APN	8	81,339,661 (GRCm39)	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	81,339,435 (GRCm39)	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	81,339,158 (GRCm39)	missense	probably benign	0.26
IGL03224:Frem3	APN	8	81,340,092 (GRCm39)	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	81,341,170 (GRCm39)	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	81,337,719 (GRCm39)	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
FR4976:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
IGL02991:Frem3	UTSW	8	81,395,511 (GRCm39)	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	81,341,159 (GRCm39)	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	81,342,507 (GRCm39)	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	81,341,814 (GRCm39)	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	81,340,581 (GRCm39)	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R0834:Frem3	UTSW	8	81,413,637 (GRCm39)	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	81,390,035 (GRCm39)	missense	probably benign	0.45
R1033:Frem3	UTSW	8	81,421,786 (GRCm39)	missense	probably benign	0.00
R1144:Frem3	UTSW	8	81,338,513 (GRCm39)	missense	probably benign	0.01
R1312:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R1330:Frem3	UTSW	8	81,395,468 (GRCm39)	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	81,417,331 (GRCm39)	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	81,395,430 (GRCm39)	missense	probably benign
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1503:Frem3	UTSW	8	81,413,647 (GRCm39)	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	81,339,764 (GRCm39)	missense	probably benign	0.00
R1538:Frem3	UTSW	8	81,339,339 (GRCm39)	missense	probably damaging	1.00
R1612:Frem3	UTSW	8	81,341,490 (GRCm39)	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	81,339,741 (GRCm39)	missense	probably benign	0.03
R1872:Frem3	UTSW	8	81,339,205 (GRCm39)	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	81,338,567 (GRCm39)	nonsense	probably null
R1886:Frem3	UTSW	8	81,340,514 (GRCm39)	missense	probably benign	0.00
R1933:Frem3	UTSW	8	81,339,519 (GRCm39)	missense	probably benign	0.00
R2027:Frem3	UTSW	8	81,421,966 (GRCm39)	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	81,342,455 (GRCm39)	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	81,341,520 (GRCm39)	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	81,341,732 (GRCm39)	missense	probably benign	0.03
R2099:Frem3	UTSW	8	81,342,488 (GRCm39)	missense	probably benign	0.06
R2120:Frem3	UTSW	8	81,342,086 (GRCm39)	missense	probably benign	0.20
R2842:Frem3	UTSW	8	81,395,978 (GRCm39)	splice site	probably null
R2845:Frem3	UTSW	8	81,339,849 (GRCm39)	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	81,339,669 (GRCm39)	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	81,341,900 (GRCm39)	missense	probably benign	0.06
R3730:Frem3	UTSW	8	81,342,545 (GRCm39)	missense	probably damaging	0.99
R3939:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3940:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	81,341,802 (GRCm39)	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	81,340,770 (GRCm39)	missense	probably benign	0.00
R4437:Frem3	UTSW	8	81,339,236 (GRCm39)	missense	probably benign	0.30
R4480:Frem3	UTSW	8	81,337,986 (GRCm39)	missense	probably benign	0.10
R4575:Frem3	UTSW	8	81,342,704 (GRCm39)	missense	probably benign	0.17
R4583:Frem3	UTSW	8	81,340,143 (GRCm39)	missense	probably benign	0.03
R4620:Frem3	UTSW	8	81,395,586 (GRCm39)	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	81,395,820 (GRCm39)	splice site	probably null
R4644:Frem3	UTSW	8	81,340,356 (GRCm39)	missense	probably benign	0.33
R4667:Frem3	UTSW	8	81,390,049 (GRCm39)	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	81,338,088 (GRCm39)	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	81,340,587 (GRCm39)	missense	probably benign	0.25
R4836:Frem3	UTSW	8	81,390,026 (GRCm39)	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	81,339,912 (GRCm39)	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	81,339,765 (GRCm39)	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	81,339,876 (GRCm39)	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	81,342,543 (GRCm39)	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	81,339,195 (GRCm39)	missense	probably benign	0.44
R5289:Frem3	UTSW	8	81,338,948 (GRCm39)	missense	probably benign	0.00
R5492:Frem3	UTSW	8	81,339,306 (GRCm39)	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	81,339,323 (GRCm39)	missense	probably benign	0.00
R5685:Frem3	UTSW	8	81,421,932 (GRCm39)	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	81,340,026 (GRCm39)	missense	probably benign	0.02
R5743:Frem3	UTSW	8	81,342,407 (GRCm39)	missense	probably damaging	0.98
R5889:Frem3	UTSW	8	81,340,917 (GRCm39)	missense	probably damaging	1.00
R6048:Frem3	UTSW	8	81,340,062 (GRCm39)	missense	probably benign	0.03
R6057:Frem3	UTSW	8	81,342,216 (GRCm39)	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	81,341,676 (GRCm39)	missense	probably benign
R6264:Frem3	UTSW	8	81,341,832 (GRCm39)	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	81,339,644 (GRCm39)	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	81,337,781 (GRCm39)	missense	probably benign	0.08
R6680:Frem3	UTSW	8	81,395,949 (GRCm39)	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	81,338,444 (GRCm39)	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	81,337,911 (GRCm39)	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	81,341,774 (GRCm39)	missense	probably benign	0.23
R6995:Frem3	UTSW	8	81,339,208 (GRCm39)	missense	probably damaging	0.98
R7112:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	81,342,668 (GRCm39)	missense	probably benign	0.01
R7235:Frem3	UTSW	8	81,417,354 (GRCm39)	missense	probably benign	0.00
R7282:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	81,342,774 (GRCm39)	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	81,342,392 (GRCm39)	missense	probably benign	0.00
R7485:Frem3	UTSW	8	81,339,965 (GRCm39)	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	81,338,712 (GRCm39)	missense	probably damaging	0.99
R7858:Frem3	UTSW	8	81,338,350 (GRCm39)	nonsense	probably null
R7976:Frem3	UTSW	8	81,338,231 (GRCm39)	nonsense	probably null
R8171:Frem3	UTSW	8	81,341,869 (GRCm39)	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	81,338,933 (GRCm39)	nonsense	probably null
R8478:Frem3	UTSW	8	81,338,187 (GRCm39)	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	81,339,224 (GRCm39)	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	81,342,851 (GRCm39)	missense	probably benign	0.02
R8794:Frem3	UTSW	8	81,338,907 (GRCm39)	missense	probably damaging	1.00
R8806:Frem3	UTSW	8	81,390,064 (GRCm39)	missense	probably benign	0.30
R8833:Frem3	UTSW	8	81,339,401 (GRCm39)	missense	probably benign	0.29
R8879:Frem3	UTSW	8	81,339,777 (GRCm39)	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	81,339,419 (GRCm39)	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	81,395,875 (GRCm39)	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	81,340,071 (GRCm39)	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	81,342,048 (GRCm39)	missense	probably benign	0.00
R9596:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R9649:Frem3	UTSW	8	81,341,145 (GRCm39)	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	81,339,134 (GRCm39)	missense	probably benign	0.00
R9723:Frem3	UTSW	8	81,341,352 (GRCm39)	missense	probably benign
R9790:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
R9791:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
RF030:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF034:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF042:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
X0024:Frem3	UTSW	8	81,339,710 (GRCm39)	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	81,339,017 (GRCm39)	nonsense	probably null
Z1088:Frem3	UTSW	8	81,342,055 (GRCm39)	missense	probably benign	0.04
Z1176:Frem3	UTSW	8	81,342,060 (GRCm39)	missense	probably benign	0.03
Z1176:Frem3	UTSW	8	81,338,132 (GRCm39)	missense	probably damaging	0.99
Z1177:Frem3	UTSW	8	81,342,758 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGGAGGTTGAACAGTCCTTAC -3'
(R):5'- CTTGCCTGGCCTTCAAACAC -3'

Sequencing Primer
(F):5'- TGACAGCCCTGACACCTGATG -3'
(R):5'- ACCACAAGTCCTCCTCTGTAG -3'

Posted On

2020-07-28