Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Frem3'

159704

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

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

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81337709-81421985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81395430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1819 (M1819K)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039695]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039695
AA Change: M1819K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: M1819K

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,573,245 (GRCm39)	N1051D	possibly damaging	Het
Abcc9	A	G	6: 142,536,222 (GRCm39)	V1504A	probably damaging	Het
Actr6	A	T	10: 89,564,019 (GRCm39)	Y84*	probably null	Het
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,586 (GRCm39)		probably benign	Het
Amd1	A	T	10: 40,166,404 (GRCm39)	C157*	probably null	Het
Ank1	G	A	8: 23,609,393 (GRCm39)	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,121,391 (GRCm39)	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,106,911 (GRCm39)	T803I	probably damaging	Het
Atr	T	G	9: 95,814,495 (GRCm39)	L2064R	probably damaging	Het
Bmp3	T	A	5: 99,020,264 (GRCm39)	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,403,892 (GRCm39)	*54W	probably null	Het
Cdc45	A	T	16: 18,627,491 (GRCm39)	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,805,363 (GRCm39)	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,982,542 (GRCm39)	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,892,913 (GRCm39)	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,088,335 (GRCm39)	D166G	unknown	Het
Dmbt1	T	A	7: 130,651,944 (GRCm39)	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,555 (GRCm39)	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fah	T	C	7: 84,242,420 (GRCm39)	D296G	probably damaging	Het
Fam83g	A	G	11: 61,593,504 (GRCm39)	N346S	probably damaging	Het
Fgl1	T	A	8: 41,644,638 (GRCm39)	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,661,431 (GRCm39)	L284R	probably damaging	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,268,852 (GRCm39)	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,723,955 (GRCm39)	Y638H	probably damaging	Het
Gp2	T	A	7: 119,050,853 (GRCm39)	I293F	probably benign	Het
Gpi1	T	C	7: 33,929,580 (GRCm39)	N20S	probably benign	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091 (GRCm39)	K382E	possibly damaging	Het
Hook3	T	A	8: 26,528,134 (GRCm39)	E585D	probably damaging	Het
Irf6	G	A	1: 192,851,613 (GRCm39)	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Lactb	T	A	9: 66,878,201 (GRCm39)	R209S	probably damaging	Het
Lonp2	A	G	8: 87,368,212 (GRCm39)	D342G	probably damaging	Het
Mmachc	T	C	4: 116,563,194 (GRCm39)	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977 (GRCm39)	W573C	probably damaging	Het
Or13e8	T	A	4: 43,697,011 (GRCm39)	H54L	possibly damaging	Het
Or5w1b	T	A	2: 87,476,182 (GRCm39)	Y95F	probably benign	Het
Or6b2b	A	T	1: 92,418,610 (GRCm39)	I289N	probably damaging	Het
Pappa2	A	T	1: 158,764,124 (GRCm39)	D462E	probably benign	Het
Pcdh12	A	T	18: 38,416,496 (GRCm39)	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,487,443 (GRCm39)		probably null	Het
Prkce	T	A	17: 86,803,446 (GRCm39)	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,175,584 (GRCm39)	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,236,809 (GRCm39)	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568 (GRCm39)	C625S	probably benign	Het
Shcbp1	T	G	8: 4,791,968 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,196,143 (GRCm39)	C449*	probably null	Het
Stpg3	T	C	2: 25,103,862 (GRCm39)	D158G	probably damaging	Het
Sycp2	T	C	2: 177,989,590 (GRCm39)	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,043,359 (GRCm39)	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,640,631 (GRCm39)	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982 (GRCm39)	V434A	probably benign	Het
Usp11	A	G	X: 20,584,946 (GRCm39)	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,513,387 (GRCm39)	I419L	probably benign	Het
Wfs1	C	A	5: 37,139,422 (GRCm39)	R72L	possibly damaging	Het
Zan	T	C	5: 137,426,201 (GRCm39)	D2525G	unknown	Het
Zfp280c	A	G	X: 47,652,715 (GRCm39)	V285A	probably benign	Het
Zfp511	T	A	7: 139,617,528 (GRCm39)	F177I	probably damaging	Het
Zfp964	A	G	8: 70,115,720 (GRCm39)	M107V	unknown	Het
Zmynd11	A	G	13: 9,760,256 (GRCm39)	Y122H	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
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
R8306:Frem3	UTSW	8	81,338,840 (GRCm39)	missense	possibly damaging	0.95
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'- GCTCCTTCATGCTTCCCAACAGTAG -3'
(R):5'- CGTGTGTGGCATACCATCTTCAGG -3'

Sequencing Primer
(F):5'- ccctttctccctccctcc -3'
(R):5'- GGCATACCATCTTCAGGATCTAC -3'

Posted On

2014-03-14