Mutagenetix > Incidental Mutation

Incidental Mutation 'R8398:Spon2'

647707

Institutional Source

Beutler Lab

Gene Symbol

Spon2

Ensembl Gene

ENSMUSG00000037379

Gene Name

spondin 2, extracellular matrix protein

Synonyms

2310045I24Rik, Mindin, M-spondin

MMRRC Submission

067761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R8398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33370862-33375596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33374154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 76 (H76Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046186] [ENSMUST00000201475]

AlphaFold

Q8BMS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046186
AA Change: H76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: H76Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Spond_N	40	234	2.3e-79	PFAM
TSP1	279	330	4.48e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201475
AA Change: H76Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379
AA Change: H76Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Spond_N	40	179	2.4e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,330,797 (GRCm39)	D6086G	probably damaging	Het
Amh	T	C	10: 80,641,394 (GRCm39)	S105P	probably benign	Het
Arap2	A	T	5: 62,906,252 (GRCm39)	Y256N	probably damaging	Het
Asap3	G	A	4: 135,961,704 (GRCm39)	M271I	probably benign	Het
Bbof1	T	C	12: 84,475,188 (GRCm39)	L459P	probably damaging	Het
Ccl21a	T	C	4: 42,773,412 (GRCm39)	T109A	probably benign	Het
Cnot6	C	T	11: 49,593,445 (GRCm39)	R12Q	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,621 (GRCm39)	Q925*	probably null	Het
Dbh	G	A	2: 27,064,910 (GRCm39)	V374M	probably damaging	Het
Dvl2	T	A	11: 69,899,128 (GRCm39)	L462Q	probably damaging	Het
Fchsd1	G	A	18: 38,099,577 (GRCm39)	R206C	probably damaging	Het
Gjd4	C	T	18: 9,280,326 (GRCm39)	V251M	possibly damaging	Het
Glud1	A	G	14: 34,033,228 (GRCm39)	D125G	probably benign	Het
Gm10428	T	C	11: 62,644,173 (GRCm39)	I83T	unknown	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm3045	A	G	13: 56,577,280 (GRCm39)	T143A	possibly damaging	Het
Heatr6	A	C	11: 83,672,164 (GRCm39)	E1057D	probably benign	Het
Hoxa9	T	C	6: 52,201,403 (GRCm39)	T213A	probably damaging	Het
Hsd3b5	T	A	3: 98,526,720 (GRCm39)	D242V	possibly damaging	Het
Lama5	A	G	2: 179,838,827 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 40,591,819 (GRCm39)	C3827Y		Het
Mast2	A	T	4: 116,165,946 (GRCm39)	S1261T	probably damaging	Het
Mex3b	T	A	7: 82,518,842 (GRCm39)	F386I	probably benign	Het
Mta1	T	A	12: 113,095,242 (GRCm39)	M465K	possibly damaging	Het
Mtmr12	T	A	15: 12,265,695 (GRCm39)	F470L	probably damaging	Het
Myot	A	G	18: 44,487,883 (GRCm39)	N400S	probably benign	Het
Ndnf	T	C	6: 65,681,362 (GRCm39)	V547A	probably damaging	Het
Noc3l	A	T	19: 38,783,554 (GRCm39)	D607E	probably benign	Het
Or5w14	A	G	2: 87,542,175 (GRCm39)	V25A	probably benign	Het
Pcdha11	G	A	18: 37,146,116 (GRCm39)	G736R	possibly damaging	Het
Pcgf3	A	G	5: 108,647,509 (GRCm39)	N205S	probably damaging	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Psg27	T	C	7: 18,295,837 (GRCm39)	T203A	probably benign	Het
Ptch1	T	C	13: 63,672,939 (GRCm39)	T889A	probably benign	Het
Sars1	C	T	3: 108,335,489 (GRCm39)		probably null	Het
Scrn2	G	T	11: 96,921,730 (GRCm39)	V67L	probably benign	Het
Slc1a4	T	C	11: 20,257,982 (GRCm39)	D380G	probably damaging	Het
Slc9a1	A	T	4: 133,146,814 (GRCm39)	Q516L	probably benign	Het
Smc4	T	C	3: 68,933,184 (GRCm39)	Y627H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sppl2b	CTGTCACA	C	10: 80,701,902 (GRCm39)		probably null	Het
Sugp1	A	G	8: 70,523,783 (GRCm39)	Y550C	probably damaging	Het
Sun1	A	G	5: 139,222,408 (GRCm39)	D558G	probably damaging	Het
Syne1	T	C	10: 5,074,923 (GRCm39)	E1134G	probably damaging	Het
Thbd	C	T	2: 148,248,600 (GRCm39)	V423I	probably benign	Het
V1rd19	C	A	7: 23,703,374 (GRCm39)	S280*	probably null	Het
Zfp947	A	T	17: 22,365,102 (GRCm39)	C191S	probably benign	Het

Other mutations in Spon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Spon2	APN	5	33,374,047 (GRCm39)	missense	probably damaging	1.00
IGL01781:Spon2	APN	5	33,372,904 (GRCm39)	missense	probably benign	0.09
IGL02533:Spon2	APN	5	33,371,942 (GRCm39)	missense	probably damaging	1.00
R1557:Spon2	UTSW	5	33,374,108 (GRCm39)	missense	probably damaging	1.00
R1711:Spon2	UTSW	5	33,373,729 (GRCm39)	missense	probably damaging	1.00
R4728:Spon2	UTSW	5	33,374,682 (GRCm39)	missense	probably benign	0.01
R4793:Spon2	UTSW	5	33,371,904 (GRCm39)	missense	probably damaging	0.99
R4961:Spon2	UTSW	5	33,371,896 (GRCm39)	nonsense	probably null
R6930:Spon2	UTSW	5	33,373,771 (GRCm39)	missense	probably benign
R7067:Spon2	UTSW	5	33,371,958 (GRCm39)	missense	probably damaging	1.00
R7643:Spon2	UTSW	5	33,374,800 (GRCm39)	missense	probably benign	0.00
R7727:Spon2	UTSW	5	33,373,019 (GRCm39)	missense	probably damaging	1.00
R8847:Spon2	UTSW	5	33,371,841 (GRCm39)	missense	probably benign	0.00
R9076:Spon2	UTSW	5	33,374,054 (GRCm39)	nonsense	probably null
R9124:Spon2	UTSW	5	33,372,935 (GRCm39)	missense	possibly damaging	0.67
R9295:Spon2	UTSW	5	33,373,844 (GRCm39)	missense	probably damaging	1.00
R9665:Spon2	UTSW	5	33,374,702 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACAACTTACCAGCGAGTGCC -3'
(R):5'- GTGGATGTGGCTCCTTACCATTC -3'

Sequencing Primer
(F):5'- GTGCACCTCTAACTCTGTGGAAG -3'
(R):5'- CTTACCATTCAGTCAGGGAGCTG -3'

Posted On

2020-09-02