Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Frem3'

544140

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6995 (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 A at 80612579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 500 (D500E)

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: D500E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: D500E

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: 99.8%
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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,994,725	Y606C	probably benign	Het
5430419D17Rik	G	T	7: 131,222,671	W165L	probably damaging	Het
5830411N06Rik	G	A	7: 140,261,601	D273N	probably benign	Het
Acad9	A	G	3: 36,085,481	Y410C	probably damaging	Het
Acot6	C	T	12: 84,109,375	P366S	probably damaging	Het
Anks1	G	T	17: 28,054,299	G964V	probably damaging	Het
Apol7a	A	T	15: 77,389,976		probably benign	Het
Arid3c	G	A	4: 41,725,087	A320V	probably damaging	Het
Bnip3l	A	T	14: 66,999,652	N50K	probably benign	Het
C130060K24Rik	A	T	6: 65,441,301	K151I	probably damaging	Het
C1qtnf4	C	A	2: 90,889,953	A190D	probably benign	Het
Cdh1	G	T	8: 106,660,913	V482L	probably benign	Het
Cdrt4	A	C	11: 62,992,660	I63L	probably benign	Het
Cic	A	T	7: 25,271,311	T156S	possibly damaging	Het
Ckm	A	G	7: 19,420,231	N301S	probably benign	Het
Colgalt1	C	T	8: 71,623,521	R539C	probably damaging	Het
Cop1	A	G	1: 159,306,584	D132G	probably damaging	Het
Cpd	G	T	11: 76,785,055	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,615,679	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,553,081	F5I	probably damaging	Het
Dclk3	T	A	9: 111,467,700	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,455,813	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,329,807	E365*	probably null	Het
Dst	A	T	1: 34,166,234	I502F	probably damaging	Het
Espl1	T	C	15: 102,304,100	V547A	possibly damaging	Het
Fam26e	A	T	10: 34,096,193	M82K	probably benign	Het
Foxa1	C	T	12: 57,542,478	A319T	probably benign	Het
Frem1	G	T	4: 82,986,601	H859N	probably damaging	Het
Gm9774	T	C	3: 92,429,008		probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grip1	A	G	10: 119,986,470	D394G	probably damaging	Het
Gsap	C	A	5: 21,271,237	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,923,486	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,970,131	T115S	probably benign	Het
Kirrel2	A	C	7: 30,455,179	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,961,448	T397M	probably damaging	Het
Lama1	G	A	17: 67,753,825	C716Y		Het
Lamc2	G	A	1: 153,136,762	T722M	probably benign	Het
Lrig1	T	C	6: 94,611,629	D513G	possibly damaging	Het
Lrrk1	T	C	7: 66,292,342	D716G	probably damaging	Het
Matn4	G	A	2: 164,389,664	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,488	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,115,548	D744G	possibly damaging	Het
Nampt	T	G	12: 32,848,743	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,239,851	V677A	probably benign	Het
Ntng2	T	C	2: 29,197,068	N414S	probably damaging	Het
Olfr1	A	G	11: 73,395,584	V146A	probably benign	Het
Olfr1160	A	C	2: 88,006,185	F189V	probably benign	Het
Olfr1284	A	G	2: 111,379,363	D121G	probably damaging	Het
Olfr472	A	G	7: 107,903,622	R302G	probably benign	Het
Parp4	A	C	14: 56,613,739	Q733P	probably damaging	Het
Pdcl3	G	A	1: 38,995,336	V56I	probably benign	Het
Pepd	A	G	7: 35,021,719	Y256C	probably damaging	Het
Plg	G	T	17: 12,419,051	R788L	probably benign	Het
Plod1	A	T	4: 147,916,218		probably benign	Het
Ptprc	A	G	1: 138,088,744	V513A	probably damaging	Het
Pxdn	T	C	12: 29,995,371	I373T	possibly damaging	Het
Rbbp8	G	A	18: 11,718,908	G262E	probably damaging	Het
Rfc2	T	A	5: 134,594,250	Y240*	probably null	Het
Rps15	A	G	10: 80,293,764	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr1	A	C	7: 29,094,182	M1287R	probably damaging	Het
Serpina9	A	G	12: 104,001,236	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,101,541	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,534,893	W26*	probably null	Het
Snx18	A	T	13: 113,594,729	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,722,958	T107I	probably benign	Het
Thap1	C	A	8: 26,162,651	T139K	probably damaging	Het
Tle4	T	A	19: 14,564,453		probably null	Het
Tmem87a	A	T	2: 120,362,928	M502K	possibly damaging	Het
Tpcn2	A	T	7: 145,256,785	V605E	probably benign	Het
Trgj1	C	A	13: 19,210,359		probably benign	Het
Tsc2	A	T	17: 24,628,054	V179E	probably damaging	Het
Ubap2l	T	C	3: 90,009,241	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,554,824	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 20,815,015	D174G	probably damaging	Het
Vmn2r50	A	T	7: 10,046,037	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,957,652		probably null	Het
Vmn2r74	T	A	7: 85,952,735	D565V	probably benign	Het
Vmn2r82	T	A	10: 79,396,543	V792E	probably damaging	Het
Zfp335	G	A	2: 164,893,290	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,453,575	K327Q	probably benign	Het
Zwilch	G	A	9: 64,165,449	Q27*	probably null	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	80668810	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	80615134	missense	probably benign	0.02
IGL01470:Frem3	APN	8	80614315	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	80612704	missense	probably benign	0.00
IGL01622:Frem3	APN	8	80613915	missense	probably benign	0.01
IGL01623:Frem3	APN	8	80613915	missense	probably benign	0.01
IGL01751:Frem3	APN	8	80615743	missense	probably benign	0.33
IGL02037:Frem3	APN	8	80611489	missense	probably benign	0.31
IGL02039:Frem3	APN	8	80612971	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	80612443	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	80613094	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	80614107	missense	possibly damaging	0.84
IGL02836:Frem3	APN	8	80614381	missense	probably benign
IGL03090:Frem3	APN	8	80618229	missense	probably benign	0.01
IGL03102:Frem3	APN	8	80613032	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	80612806	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	80612529	missense	probably benign	0.26
IGL03224:Frem3	APN	8	80613463	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	80614541	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	80611090	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	80615241	small insertion	probably benign
FR4976:Frem3	UTSW	8	80615241	small insertion	probably benign
IGL02991:Frem3	UTSW	8	80668882	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	80614530	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	80615878	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	80615185	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	80613952	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	80615322	missense	probably benign
R0834:Frem3	UTSW	8	80687008	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	80663406	missense	probably benign	0.45
R1033:Frem3	UTSW	8	80695157	missense	probably benign	0.00
R1144:Frem3	UTSW	8	80611884	missense	probably benign	0.01
R1312:Frem3	UTSW	8	80615322	missense	probably benign
R1330:Frem3	UTSW	8	80668839	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	80690702	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	80690773	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	80668801	missense	probably benign
R1470:Frem3	UTSW	8	80611191	missense	probably benign	0.05
R1470:Frem3	UTSW	8	80611191	missense	probably benign	0.05
R1503:Frem3	UTSW	8	80687018	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	80612710	missense	probably damaging	1.00
R1538:Frem3	UTSW	8	80613135	missense	probably benign	0.00
R1612:Frem3	UTSW	8	80614861	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	80613112	missense	probably benign	0.03
R1872:Frem3	UTSW	8	80612576	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	80611938	nonsense	probably null
R1886:Frem3	UTSW	8	80613885	missense	probably benign	0.00
R1933:Frem3	UTSW	8	80612890	missense	probably benign	0.00
R2027:Frem3	UTSW	8	80695337	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	80615826	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	80614891	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	80615103	missense	probably benign	0.03
R2099:Frem3	UTSW	8	80615859	missense	probably benign	0.06
R2120:Frem3	UTSW	8	80615457	missense	probably benign	0.20
R2842:Frem3	UTSW	8	80669349	splice site	probably null
R2845:Frem3	UTSW	8	80613220	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	80690773	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	80613040	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	80615271	missense	probably benign	0.06
R3730:Frem3	UTSW	8	80615916	missense	probably damaging	0.99
R3939:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R3940:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	80615020	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	80615173	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	80614141	missense	probably benign	0.00
R4437:Frem3	UTSW	8	80612607	missense	probably benign	0.30
R4480:Frem3	UTSW	8	80611357	missense	probably benign	0.10
R4575:Frem3	UTSW	8	80616075	missense	probably benign	0.17
R4583:Frem3	UTSW	8	80613514	missense	probably benign	0.03
R4620:Frem3	UTSW	8	80668957	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	80669191	splice site	probably null
R4644:Frem3	UTSW	8	80613727	missense	probably benign	0.33
R4667:Frem3	UTSW	8	80663420	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	80611459	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	80613958	missense	probably benign	0.25
R4836:Frem3	UTSW	8	80663397	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	80613283	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	80613136	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	80613247	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	80615914	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	80612566	missense	probably benign	0.44
R5289:Frem3	UTSW	8	80612319	missense	probably benign	0.00
R5492:Frem3	UTSW	8	80612677	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	80612694	missense	probably benign	0.00
R5685:Frem3	UTSW	8	80695303	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	80613397	missense	probably benign	0.02
R5743:Frem3	UTSW	8	80615778	missense	probably damaging	0.98
R5889:Frem3	UTSW	8	80614288	missense	probably damaging	1.00
R6048:Frem3	UTSW	8	80613433	missense	probably benign	0.03
R6057:Frem3	UTSW	8	80615587	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	80615047	missense	probably benign
R6264:Frem3	UTSW	8	80615203	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	80613015	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	80611152	missense	probably benign	0.08
R6680:Frem3	UTSW	8	80669320	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	80611815	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	80611282	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	80615145	missense	probably benign	0.23
R7112:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	80616039	missense	probably benign	0.01
R7235:Frem3	UTSW	8	80690725	missense	probably benign	0.00
R7282:Frem3	UTSW	8	80612031	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	80616145	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	80615763	missense	probably benign	0.00
R7485:Frem3	UTSW	8	80613336	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	80612083	missense	probably damaging	0.99
R7858:Frem3	UTSW	8	80611721	nonsense	probably null
R7976:Frem3	UTSW	8	80611602	nonsense	probably null
R8171:Frem3	UTSW	8	80615240	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	80612304	nonsense	probably null
R8306:Frem3	UTSW	8	80612211	missense	possibly damaging	0.95
R8478:Frem3	UTSW	8	80611558	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	80612595	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	80612278	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	80616222	missense	probably benign	0.02
R8806:Frem3	UTSW	8	80663435	missense	probably benign	0.30
R8833:Frem3	UTSW	8	80612772	missense	probably benign	0.29
R8879:Frem3	UTSW	8	80613148	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	80612790	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	80669246	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	80613442	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	80690773	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	80615419	missense	probably benign	0.00
R9596:Frem3	UTSW	8	80615322	missense	probably benign
R9649:Frem3	UTSW	8	80614516	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	80612505	missense	probably benign	0.00
R9723:Frem3	UTSW	8	80614723	missense	probably benign
R9790:Frem3	UTSW	8	80613261	missense	probably benign	0.01
R9791:Frem3	UTSW	8	80613261	missense	probably benign	0.01
RF030:Frem3	UTSW	8	80615238	small insertion	probably benign
RF034:Frem3	UTSW	8	80615238	small insertion	probably benign
RF042:Frem3	UTSW	8	80615238	small insertion	probably benign
X0024:Frem3	UTSW	8	80613081	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	80612388	nonsense	probably null
Z1088:Frem3	UTSW	8	80615426	missense	probably benign	0.04
Z1176:Frem3	UTSW	8	80611503	missense	probably damaging	0.99
Z1176:Frem3	UTSW	8	80615431	missense	probably benign	0.03
Z1177:Frem3	UTSW	8	80616129	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GATGCCCTAAGCTTTCAGGTC -3'
(R):5'- TTCGTCTTCCAACACAAAGAGG -3'

Sequencing Primer
(F):5'- CCTAAGCTTTCAGGTCAGTGATAAAG -3'
(R):5'- GTCCTCAGAATCAATATCGGTGGC -3'

Posted On

2019-05-13