Mutagenetix > Incidental Mutation

Incidental Mutation 'R8717:Fsd2'

669952

Institutional Source

Beutler Lab

Gene Symbol

Fsd2

Ensembl Gene

ENSMUSG00000038663

Gene Name

fibronectin type III and SPRY domain containing 2

Synonyms

9830160G03Rik, Spryd1

MMRRC Submission

068570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81184102-81216729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81190090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 564 (E564G)

Ref Sequence

ENSEMBL: ENSMUSP00000047775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042318]

AlphaFold

Q8BZ52

Predicted Effect

probably benign
Transcript: ENSMUST00000042318
AA Change: E564G

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

SMART Domains

Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: E564G

Domain	Start	End	E-Value	Type
low complexity region	102	121	N/A	INTRINSIC
coiled coil region	204	231	N/A	INTRINSIC
FN3	315	400	7.34e-9	SMART
FN3	412	494	2e-1	SMART
Pfam:PRY	509	558	8.6e-9	PFAM
Pfam:SPRY	564	683	2.8e-12	PFAM

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,543,958 (GRCm39)	F528L	probably benign	Het
Aadacl3	T	G	4: 144,182,778 (GRCm39)	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,403,579 (GRCm39)		probably benign	Het
Agtr1a	A	C	13: 30,565,357 (GRCm39)	T141P	probably damaging	Het
Ankfy1	T	A	11: 72,621,300 (GRCm39)	D195E	probably benign	Het
AY074887	G	A	9: 54,857,786 (GRCm39)	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,034,314 (GRCm39)	A71V		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cntrl	T	A	2: 35,003,351 (GRCm39)	V78E	probably benign	Het
Cyp2c67	T	A	19: 39,627,155 (GRCm39)	Y225F	probably benign	Het
Cyp2j13	T	A	4: 95,933,777 (GRCm39)	H369L	probably benign	Het
Dagla	T	C	19: 10,225,587 (GRCm39)	E859G	probably benign	Het
Duox1	C	A	2: 122,168,152 (GRCm39)	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,556,561 (GRCm39)	S662I	probably benign	Het
Epor	A	T	9: 21,870,741 (GRCm39)	C380S	probably benign	Het
Hace1	C	T	10: 45,481,694 (GRCm39)	T117I	unknown	Het
Ift172	A	G	5: 31,412,985 (GRCm39)	M1488T	probably benign	Het
Insyn1	A	G	9: 58,406,623 (GRCm39)	T178A	probably damaging	Het
Kdm3b	A	G	18: 34,952,840 (GRCm39)	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,434,711 (GRCm39)	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,783,253 (GRCm39)	E33K	probably damaging	Het
Magel2	T	C	7: 62,027,420 (GRCm39)	M108T	unknown	Het
Mief1	T	C	15: 80,132,584 (GRCm39)	S127P	probably benign	Het
Mprip	T	C	11: 59,650,526 (GRCm39)	V1410A	probably benign	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,738,687 (GRCm39)	M25K	possibly damaging	Het
Neb	T	G	2: 52,073,781 (GRCm39)	H5942P	probably damaging	Het
Nf2	A	T	11: 4,766,099 (GRCm39)	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,368,225 (GRCm39)	M1166L	probably benign	Het
Npnt	A	T	3: 132,614,136 (GRCm39)	L206Q	probably damaging	Het
Or10ak13	T	C	4: 118,638,996 (GRCm39)	Y262C	probably damaging	Het
Or4g7	A	G	2: 111,309,992 (GRCm39)	T288A	probably damaging	Het
Or6c65	T	A	10: 129,604,127 (GRCm39)	I254N	probably damaging	Het
Parg	A	G	14: 31,932,492 (GRCm39)	K444R	probably benign	Het
Pcbp4	A	T	9: 106,337,202 (GRCm39)		probably null	Het
Pcdhgb4	A	G	18: 37,853,847 (GRCm39)	S81G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekho2	T	C	9: 65,464,058 (GRCm39)	N264D	probably benign	Het
Pmpca	T	A	2: 26,281,893 (GRCm39)	M182K	probably damaging	Het
Prdm10	A	G	9: 31,252,695 (GRCm39)	H476R	probably benign	Het
Prxl2a	G	A	14: 40,720,836 (GRCm39)	P126S	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rbp3	G	A	14: 33,678,395 (GRCm39)	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695 (GRCm39)	S409R	probably damaging	Het
Ryr1	C	A	7: 28,751,753 (GRCm39)	R3680L	probably benign	Het
Sbno1	T	C	5: 124,512,618 (GRCm39)	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,685,763 (GRCm39)	D271G	probably benign	Het
Sin3a	C	T	9: 57,034,510 (GRCm39)	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,294,620 (GRCm39)	R294G	probably benign	Het
Smcr8	T	A	11: 60,670,254 (GRCm39)	S467R	probably damaging	Het
Spaca7	A	G	8: 12,636,480 (GRCm39)	Y102C	probably damaging	Het
Tacr1	A	G	6: 82,380,706 (GRCm39)	Y39C	probably damaging	Het
Tenm3	G	A	8: 48,752,680 (GRCm39)	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,415,132 (GRCm39)	M307K	possibly damaging	Het
Tnn	A	G	1: 159,943,846 (GRCm39)	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,460,186 (GRCm39)	N441K	probably damaging	Het
Ttll1	T	C	15: 83,373,709 (GRCm39)	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,576,705 (GRCm39)	V858I	probably benign	Het
Ufsp2	G	T	8: 46,436,614 (GRCm39)	V122L	probably benign	Het
Wdr26	A	G	1: 181,011,913 (GRCm39)	C470R	possibly damaging	Het
Xab2	T	C	8: 3,663,845 (GRCm39)	H358R	probably benign	Het
Xrcc5	A	G	1: 72,422,905 (GRCm39)	I697V	probably benign	Het

Other mutations in Fsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Fsd2	APN	7	81,202,755 (GRCm39)	missense	probably benign	0.15
IGL02012:Fsd2	APN	7	81,199,662 (GRCm39)	missense	probably benign	0.00
IGL02061:Fsd2	APN	7	81,190,172 (GRCm39)	nonsense	probably null
IGL02971:Fsd2	APN	7	81,198,671 (GRCm39)	nonsense	probably null
IGL03207:Fsd2	APN	7	81,208,918 (GRCm39)	missense	probably benign	0.28
IGL03344:Fsd2	APN	7	81,209,657 (GRCm39)	missense	probably benign	0.00
R0142:Fsd2	UTSW	7	81,209,683 (GRCm39)	missense	probably damaging	0.98
R0540:Fsd2	UTSW	7	81,194,765 (GRCm39)	missense	probably damaging	1.00
R0607:Fsd2	UTSW	7	81,194,765 (GRCm39)	missense	probably damaging	1.00
R0846:Fsd2	UTSW	7	81,190,145 (GRCm39)	missense	probably benign	0.00
R0863:Fsd2	UTSW	7	81,191,913 (GRCm39)	missense	possibly damaging	0.47
R1172:Fsd2	UTSW	7	81,209,518 (GRCm39)	missense	probably benign
R1173:Fsd2	UTSW	7	81,209,518 (GRCm39)	missense	probably benign
R1175:Fsd2	UTSW	7	81,209,518 (GRCm39)	missense	probably benign
R1438:Fsd2	UTSW	7	81,198,621 (GRCm39)	missense	probably benign	0.13
R1456:Fsd2	UTSW	7	81,209,339 (GRCm39)	nonsense	probably null
R1717:Fsd2	UTSW	7	81,184,857 (GRCm39)	missense	probably benign	0.23
R1987:Fsd2	UTSW	7	81,209,407 (GRCm39)	missense	possibly damaging	0.89
R2698:Fsd2	UTSW	7	81,195,608 (GRCm39)	missense	probably damaging	0.99
R4108:Fsd2	UTSW	7	81,194,715 (GRCm39)	missense	probably benign	0.01
R4165:Fsd2	UTSW	7	81,195,608 (GRCm39)	missense	probably damaging	0.99
R4335:Fsd2	UTSW	7	81,191,813 (GRCm39)	missense	probably damaging	0.99
R4570:Fsd2	UTSW	7	81,209,518 (GRCm39)	missense	probably benign
R4707:Fsd2	UTSW	7	81,209,428 (GRCm39)	missense	probably damaging	1.00
R4741:Fsd2	UTSW	7	81,201,643 (GRCm39)	critical splice donor site	probably null
R4863:Fsd2	UTSW	7	81,202,712 (GRCm39)	missense	probably null	0.91
R5281:Fsd2	UTSW	7	81,202,733 (GRCm39)	missense	probably benign	0.15
R5898:Fsd2	UTSW	7	81,186,975 (GRCm39)	missense	probably damaging	1.00
R6812:Fsd2	UTSW	7	81,184,837 (GRCm39)	missense	probably benign	0.00
R7367:Fsd2	UTSW	7	81,184,928 (GRCm39)	missense	probably damaging	1.00
R7976:Fsd2	UTSW	7	81,209,629 (GRCm39)	missense	probably benign	0.00
R8928:Fsd2	UTSW	7	81,209,354 (GRCm39)	missense	probably benign
R8987:Fsd2	UTSW	7	81,209,766 (GRCm39)	missense	probably benign	0.39
R9678:Fsd2	UTSW	7	81,209,449 (GRCm39)	missense	probably damaging	1.00
Z1176:Fsd2	UTSW	7	81,202,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Fsd2	UTSW	7	81,209,500 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCTGTGTTATGTGACCTGATAGTC -3'
(R):5'- AGGGGTTCTGTGCATCCATG -3'

Sequencing Primer
(F):5'- GATAGTCTGGCTATATCCCATAGTGC -3'
(R):5'- GCTTGGGTAATACTCTTAGACCATGC -3'

Posted On

2021-04-30