Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Spon2'

595550

Institutional Source

Beutler Lab

Gene Symbol

Spon2

Ensembl Gene

ENSMUSG00000037379

Gene Name

spondin 2, extracellular matrix protein

Synonyms

M-spondin, 2310045I24Rik, Mindin

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33198184-33218455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33215675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 228 (R228C)

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: R228C

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

SMART Domains

Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: R228C

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 benign
Transcript: ENSMUST00000201475

SMART Domains

Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	T	16: 85,899,966 (GRCm38)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011 (GRCm38)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275 (GRCm38)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187 (GRCm38)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413 (GRCm38)		probably null	Het
Cc2d2b	T	A	19: 40,756,530 (GRCm38)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855 (GRCm38)	E234*	probably null	Het
Cemip2	C	T	19: 21,829,957 (GRCm38)	L917F	probably benign	Het
Cfap65	T	C	1: 74,926,625 (GRCm38)	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925 (GRCm38)	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755 (GRCm38)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793 (GRCm38)	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,451,244 (GRCm38)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645 (GRCm38)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273 (GRCm38)	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150 (GRCm38)	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591 (GRCm38)	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702 (GRCm38)	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542 (GRCm38)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339 (GRCm38)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666 (GRCm38)	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090 (GRCm38)	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045 (GRCm38)	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567 (GRCm38)	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668 (GRCm38)	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947 (GRCm38)	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306 (GRCm38)	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794 (GRCm38)	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242 (GRCm38)	H327L	unknown	Het
Myh1	A	G	11: 67,215,922 (GRCm38)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548 (GRCm38)		probably benign	Het
Naga	C	A	15: 82,330,147 (GRCm38)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401 (GRCm38)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593 (GRCm38)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm38)	V142A	possibly damaging	Het
Or5g23	A	G	2: 85,608,407 (GRCm38)	F168L	possibly damaging	Het
Or8u3-ps	A	T	2: 86,122,496 (GRCm38)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045 (GRCm38)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882 (GRCm38)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057 (GRCm38)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109 (GRCm38)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378 (GRCm38)	F131L	probably benign	Het
Prss3b	C	A	6: 41,033,193 (GRCm38)	R69L	probably benign	Het
Rab28	A	G	5: 41,707,970 (GRCm38)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438 (GRCm38)	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984 (GRCm38)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218 (GRCm38)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327 (GRCm38)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580 (GRCm38)	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899 (GRCm38)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044 (GRCm38)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434 (GRCm38)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526 (GRCm38)	Y1778H	probably damaging	Het
Sv2c	A	G	13: 95,976,695 (GRCm38)	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178 (GRCm38)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,925,789 (GRCm38)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249 (GRCm38)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274 (GRCm38)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,799,682 (GRCm38)	F942L	probably benign	Het
Uba2	C	T	7: 34,150,850 (GRCm38)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938 (GRCm38)	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805 (GRCm38)	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148 (GRCm38)	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134 (GRCm38)	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636 (GRCm38)	F118Y	probably damaging	Het
Zfp110	T	A	7: 12,848,995 (GRCm38)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643 (GRCm38)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941 (GRCm38)	I235V	probably benign	Het

Other mutations in Spon2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Spon2	APN	5	33,216,703 (GRCm38)	missense	probably damaging	1.00
IGL01781:Spon2	APN	5	33,215,560 (GRCm38)	missense	probably benign	0.09
IGL02533:Spon2	APN	5	33,214,598 (GRCm38)	missense	probably damaging	1.00
R1557:Spon2	UTSW	5	33,216,764 (GRCm38)	missense	probably damaging	1.00
R1711:Spon2	UTSW	5	33,216,385 (GRCm38)	missense	probably damaging	1.00
R4728:Spon2	UTSW	5	33,217,338 (GRCm38)	missense	probably benign	0.01
R4793:Spon2	UTSW	5	33,214,560 (GRCm38)	missense	probably damaging	0.99
R4961:Spon2	UTSW	5	33,214,552 (GRCm38)	nonsense	probably null
R6930:Spon2	UTSW	5	33,216,427 (GRCm38)	missense	probably benign
R7067:Spon2	UTSW	5	33,214,614 (GRCm38)	missense	probably damaging	1.00
R7643:Spon2	UTSW	5	33,217,456 (GRCm38)	missense	probably benign	0.00
R8398:Spon2	UTSW	5	33,216,810 (GRCm38)	missense	probably damaging	1.00
R8847:Spon2	UTSW	5	33,214,497 (GRCm38)	missense	probably benign	0.00
R9076:Spon2	UTSW	5	33,216,710 (GRCm38)	nonsense	probably null
R9124:Spon2	UTSW	5	33,215,591 (GRCm38)	missense	possibly damaging	0.67
R9295:Spon2	UTSW	5	33,216,500 (GRCm38)	missense	probably damaging	1.00
R9665:Spon2	UTSW	5	33,217,358 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGAGCTCAGACACACTTTCC -3'
(R):5'- GCAGATGAGACCCAAGTTGG -3'

Sequencing Primer
(F):5'- AGACACACTTTCCCAGCCTCTG -3'
(R):5'- CCAAGTTGGGGGTCTTTGC -3'

Posted On

2019-11-12