Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Frem3'

672066

Institutional Source

Beutler Lab

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

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

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81337709-81421985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81390064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1772 (Y1772H)

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: Y1772H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: Y1772H

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

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	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
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
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'- GTGACCACCGATTTGTAGTATTC -3'
(R):5'- GTATTCCATCAGTCCAGCCATC -3'

Sequencing Primer
(F):5'- GATTTGTAGTATTCTTCCCCTAAGC -3'
(R):5'- ATCAGTCCAGCCATCTCTTCTAG -3'

Posted On

2021-04-30