Mutagenetix > Incidental Mutation

Incidental Mutation 'R7516:Frem3'

582468

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

045589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80612083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 335 (V335A)

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: V335A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V335A

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,630,676 (GRCm38)	I407F	probably damaging	Het
Agbl1	A	G	7: 76,425,921 (GRCm38)	Y437C	probably damaging	Het
Alkbh5	T	C	11: 60,539,153 (GRCm38)	V244A	probably damaging	Het
Arap1	T	C	7: 101,409,331 (GRCm38)	F1390L	probably benign	Het
Asph	T	C	4: 9,630,940 (GRCm38)	D136G	possibly damaging	Het
Atp8a2	A	T	14: 59,857,067 (GRCm38)	Y841N	probably damaging	Het
Cald1	A	T	6: 34,709,557 (GRCm38)		probably benign	Het
Capn11	A	G	17: 45,638,840 (GRCm38)	I400T	possibly damaging	Het
Cdh18	T	A	15: 23,259,598 (GRCm38)		probably null	Het
Ces2h	T	A	8: 105,016,826 (GRCm38)	L204Q	probably damaging	Het
Chrna3	G	A	9: 55,015,369 (GRCm38)	A385V	probably benign	Het
Clca4a	A	T	3: 144,966,248 (GRCm38)	L311Q	probably damaging	Het
Clip1	A	G	5: 123,583,385 (GRCm38)	V1149A	probably benign	Het
Clip3	T	A	7: 30,298,843 (GRCm38)	V238D	possibly damaging	Het
Col12a1	A	G	9: 79,612,910 (GRCm38)		probably null	Het
Coro2a	A	G	4: 46,562,992 (GRCm38)	V54A	probably benign	Het
Crem	T	C	18: 3,299,141 (GRCm38)		probably null	Het
Dennd5b	T	C	6: 149,068,380 (GRCm38)	I192V	probably benign	Het
Dst	A	G	1: 34,170,479 (GRCm38)	N1209S	probably benign	Het
Ero1a	T	A	14: 45,288,023 (GRCm38)	M385L	probably benign	Het
Fam13a	A	T	6: 58,955,263 (GRCm38)	V375D	probably damaging	Het
Fgfbp3	T	A	19: 36,918,924 (GRCm38)	Y98F	possibly damaging	Het
Gm19410	T	A	8: 35,796,279 (GRCm38)	D951E	probably benign	Het
Gpatch1	T	C	7: 35,308,200 (GRCm38)	D145G	probably benign	Het
H60c	G	T	10: 3,259,746 (GRCm38)	C180*	probably null	Het
Hmcn1	T	C	1: 150,622,967 (GRCm38)	T4054A	probably benign	Het
Hrg	A	G	16: 22,961,298 (GRCm38)	Y442C	unknown	Het
Hspg2	C	T	4: 137,542,620 (GRCm38)	R2327C	possibly damaging	Het
Klhl31	G	T	9: 77,651,147 (GRCm38)	A382S	probably damaging	Het
Knl1	T	C	2: 119,070,698 (GRCm38)	V960A	probably damaging	Het
Lztr1	C	T	16: 17,509,661 (GRCm38)	A76V	possibly damaging	Het
Me3	G	T	7: 89,847,975 (GRCm38)	E395*	probably null	Het
Morc2b	G	A	17: 33,137,461 (GRCm38)	H446Y	probably benign	Het
Mroh7	A	T	4: 106,691,119 (GRCm38)	M1054K	probably benign	Het
Ms4a6b	T	C	19: 11,529,543 (GRCm38)	V232A	probably benign	Het
Nmt2	C	A	2: 3,312,730 (GRCm38)	D224E	probably damaging	Het
Nox4	C	A	7: 87,321,697 (GRCm38)	R261S	probably benign	Het
Obscn	T	A	11: 59,124,590 (GRCm38)	K1019*	probably null	Het
Or4a15	T	A	2: 89,363,375 (GRCm38)	N18I	probably benign	Het
Or4g7	T	A	2: 111,478,937 (GRCm38)	V51D	probably benign	Het
Or5p67	G	A	7: 108,323,016 (GRCm38)	S220F	probably damaging	Het
Or8k24	C	T	2: 86,385,984 (GRCm38)	V145I	probably benign	Het
Pcdha11	A	T	18: 37,011,618 (GRCm38)	N254I	probably damaging	Het
Pck2	T	A	14: 55,542,456 (GRCm38)	I54N	probably benign	Het
Pkd1l3	T	A	8: 109,635,229 (GRCm38)	W978R	probably damaging	Het
Plxna4	T	C	6: 32,237,768 (GRCm38)	T593A	probably benign	Het
Podn	G	A	4: 108,022,124 (GRCm38)	R266W	probably damaging	Het
Ptpn22	A	G	3: 103,885,538 (GRCm38)	D335G	probably benign	Het
Pxn	A	G	5: 115,506,863 (GRCm38)	D3G	unknown	Het
Rapgefl1	T	G	11: 98,846,134 (GRCm38)	V320G	probably benign	Het
Rel	A	G	11: 23,742,785 (GRCm38)	I416T	probably benign	Het
Sema5b	A	G	16: 35,651,170 (GRCm38)	N378D	probably benign	Het
Sh3bp4	C	A	1: 89,145,646 (GRCm38)	L739M	probably damaging	Het
Skint2	A	T	4: 112,625,971 (GRCm38)	D191V	probably damaging	Het
Slc3a1	T	C	17: 85,063,762 (GRCm38)	Y581H	probably damaging	Het
Smcr8	G	T	11: 60,779,988 (GRCm38)	C654F	probably benign	Het
Spta1	A	C	1: 174,197,783 (GRCm38)	Q738P	probably damaging	Het
Sptlc3	C	A	2: 139,589,518 (GRCm38)	A320D	probably benign	Het
Thnsl2	T	A	6: 71,132,006 (GRCm38)	K274*	probably null	Het
Tmed2	T	A	5: 124,546,992 (GRCm38)	I68K	possibly damaging	Het
Tmtc4	G	A	14: 122,943,323 (GRCm38)	A326V	possibly damaging	Het
Tnks2	T	A	19: 36,871,664 (GRCm38)	S179T	possibly damaging	Het
Trim34b	G	T	7: 104,329,711 (GRCm38)	C55F	probably damaging	Het
Trpm4	T	A	7: 45,305,020 (GRCm38)	E1129V	probably damaging	Het
Tvp23b	T	C	11: 62,892,041 (GRCm38)	S188P	possibly damaging	Het
Usp1	A	G	4: 98,934,119 (GRCm38)	T557A	probably damaging	Het
Vmn2r66	C	T	7: 85,011,968 (GRCm38)	C18Y	possibly damaging	Het
Vmn2r85	T	A	10: 130,418,983 (GRCm38)	T611S	probably damaging	Het
Vps13c	T	C	9: 67,955,007 (GRCm38)	S2969P	possibly damaging	Het
Wdr74	T	A	19: 8,736,190 (GRCm38)	C62*	probably null	Het
Wfikkn1	A	T	17: 25,878,046 (GRCm38)	C435S	probably damaging	Het
Zbtb45	A	T	7: 13,006,342 (GRCm38)	F449I	probably damaging	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGACCAGAGTCACAAGGTAC -3'
(R):5'- TTTGAGCTGAAAGACGTGGTC -3'

Sequencing Primer
(F):5'- CCAGAGTCACAAGGTACTAGGTC -3'
(R):5'- AAAGACGTGGTCCCCTTCTGAG -3'

Posted On

2019-10-17