Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Frem3'

671111

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

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

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80611080-80695356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80612278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 400 (V400A)

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: V400A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V400A

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: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,107	V498D	unknown	Het
Actn1	C	T	12: 80,198,980		probably benign	Het
Actrt2	T	C	4: 154,666,719	E320G	probably damaging	Het
Adamts7	C	T	9: 90,194,186	Q1265*	probably null	Het
Adra1a	A	G	14: 66,637,615	N13S	probably benign	Het
Alpk3	G	T	7: 81,057,655	R9L	unknown	Het
Ankrd42	A	G	7: 92,614,466	F225L	probably benign	Het
C3	T	C	17: 57,221,011	E736G	probably benign	Het
Ccng1	A	G	11: 40,753,999	S24P	probably benign	Het
Cdc42bpa	A	T	1: 180,067,251	N332I	probably damaging	Het
Cep131	G	A	11: 120,081,248	P90S	probably benign	Het
Chd8	A	G	14: 52,204,447	S2154P	probably damaging	Het
Cilp	A	G	9: 65,279,253	S877G	probably benign	Het
Clic6	T	A	16: 92,528,099	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,179,208	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,237,918	I309T	probably benign	Het
Cux2	T	C	5: 121,869,243	E785G	probably benign	Het
Cyfip2	A	G	11: 46,253,973	F685L	possibly damaging	Het
Epha6	T	C	16: 60,205,672	D469G	probably benign	Het
Erc1	A	T	6: 119,630,655	V962E	probably damaging	Het
Esrrb	A	T	12: 86,470,264	S57C	probably damaging	Het
Fam169a	A	G	13: 97,114,120	T320A	possibly damaging	Het
Farsb	C	T	1: 78,425,041		probably benign	Het
Frmpd1	A	G	4: 45,279,632	T786A	probably benign	Het
Gapvd1	A	T	2: 34,704,318	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077	S737P	probably damaging	Het
Gm4869	A	G	5: 140,476,030	E529G	probably damaging	Het
Gm525	A	G	11: 89,088,653	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,332,038	D175V	probably benign	Het
Heatr5b	T	C	17: 78,815,586	I655V	probably benign	Het
Hmcn1	G	A	1: 150,715,718	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ier2	A	T	8: 84,662,467	D95E	probably damaging	Het
Ifi208	A	G	1: 173,695,804	R547G	possibly damaging	Het
Itih3	T	A	14: 30,912,897	S639C	possibly damaging	Het
March7	G	A	2: 60,243,671		probably null	Het
Mep1b	A	C	18: 21,091,268	T373P	probably damaging	Het
Mlh3	G	A	12: 85,235,723	P1379S	probably damaging	Het
Nav3	T	A	10: 109,769,171	K1014*	probably null	Het
Nme1	A	T	11: 93,960,832	F78I	probably benign	Het
Nos3	T	A	5: 24,371,747	V458D	probably damaging	Het
Noxa1	A	G	2: 25,094,840	F29L	probably benign	Het
Nrcam	G	A	12: 44,578,175	G1055D	probably benign	Het
Nutf2	A	T	8: 105,875,539		probably benign	Het
Olfr1218	T	C	2: 89,055,133	M98V	probably benign	Het
Olfr1272	A	T	2: 90,281,806	Y256*	probably null	Het
Olfr506	A	T	7: 108,612,373	D22V	probably benign	Het
Olfr869	A	T	9: 20,137,334	M73L	possibly damaging	Het
Oog3	A	G	4: 144,157,986	I460T	probably benign	Het
Pde2a	A	T	7: 101,505,929	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,547,487	Q61*	probably null	Het
Pdpr	A	G	8: 111,125,608	T536A	possibly damaging	Het
Pias4	T	A	10: 81,164,012	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787	D188E	possibly damaging	Het
Pik3r2	A	G	8: 70,771,363	V270A	probably benign	Het
Plod2	T	A	9: 92,600,748	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,756,834	V450A	probably benign	Het
Poln	G	A	5: 34,129,527	T99I	possibly damaging	Het
Prg2	A	G	2: 84,982,060	D38G	possibly damaging	Het
Psmd7	A	C	8: 107,584,199	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Ranbp2	T	A	10: 58,492,592	V2810E	probably damaging	Het
Rgma	A	T	7: 73,417,900	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,027,838	T25A	probably damaging	Het
Serpinb6e	T	C	13: 33,840,994	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,329,413	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,548,783	T80S	probably benign	Het
Skint6	A	T	4: 113,192,672	S265R	possibly damaging	Het
Slc23a2	A	T	2: 132,060,709	F524L	probably benign	Het
Slc2a13	C	A	15: 91,350,099	G345C	probably damaging	Het
Sp110	A	G	1: 85,583,510		probably null	Het
Srcin1	A	G	11: 97,548,977	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,632,388	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,270,190	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,338,821	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,038,485	Q32L	probably benign	Het
Trav16n	A	C	14: 53,351,410	T48P	probably damaging	Het
Ufc1	A	G	1: 171,289,522	Y110H	probably damaging	Het
Wars2	A	G	3: 99,216,572	K250E	probably damaging	Het
Wdfy4	G	T	14: 33,147,092	N326K	probably benign	Het
Xirp2	A	T	2: 67,511,213	E1266V	probably damaging	Het
Zfp423	A	C	8: 87,781,229	L829R	probably damaging	Het
Zfp735	A	G	11: 73,712,203	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,363,677	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,820,767	M389K	probably damaging	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
R6995:Frem3	UTSW	8	80612579	missense	probably damaging	0.98
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	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'- TGACGACCTAGTCTTCAACATTCTC -3'
(R):5'- TGCAAACCTCTGACTGCAAC -3'

Sequencing Primer
(F):5'- ATTCTCAATGTACCCGAGGC -3'
(R):5'- CCTCTGACTGCAACAATTTTTATTTC -3'

Posted On

2021-04-30