Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Spred2'

570153

Institutional Source

Beutler Lab

Gene Symbol

Spred2

Ensembl Gene

ENSMUSG00000045671

Gene Name

sprouty-related EVH1 domain containing 2

Synonyms

Spred-2

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19874442-19974026 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 19874958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093298] [ENSMUST00000093299]

AlphaFold

Q924S7

Predicted Effect

probably null
Transcript: ENSMUST00000093298

SMART Domains

Protein: ENSMUSP00000090987
Gene: ENSMUSG00000045671

Domain	Start	End	E-Value	Type
Pfam:WH1	6	119	4.7e-13	PFAM
Pfam:Sprouty	298	403	3.8e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000093299

SMART Domains

Protein: ENSMUSP00000090988
Gene: ENSMUSG00000045671

Domain	Start	End	E-Value	Type
Pfam:WH1	91	146	4.1e-10	PFAM
Pfam:Sprouty	325	430	8.6e-29	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are fertile and display increased hematopoietic cell formation in culture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	probably benign	Het

Other mutations in Spred2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0512:Spred2	UTSW	11	19,958,485 (GRCm39)	splice site	probably benign
R0944:Spred2	UTSW	11	19,951,104 (GRCm39)	splice site	probably benign
R1467:Spred2	UTSW	11	19,968,109 (GRCm39)	missense	probably benign	0.00
R1467:Spred2	UTSW	11	19,968,109 (GRCm39)	missense	probably benign	0.00
R2156:Spred2	UTSW	11	19,971,241 (GRCm39)	missense	probably damaging	1.00
R2915:Spred2	UTSW	11	19,948,215 (GRCm39)	missense	probably damaging	1.00
R3433:Spred2	UTSW	11	19,948,277 (GRCm39)	nonsense	probably null
R4839:Spred2	UTSW	11	19,948,233 (GRCm39)	missense	possibly damaging	0.53
R5100:Spred2	UTSW	11	19,971,291 (GRCm39)	nonsense	probably null
R5353:Spred2	UTSW	11	19,968,155 (GRCm39)	missense	possibly damaging	0.82
R5529:Spred2	UTSW	11	19,971,301 (GRCm39)	missense	probably damaging	1.00
R5709:Spred2	UTSW	11	19,971,415 (GRCm39)	missense	probably damaging	1.00
R6978:Spred2	UTSW	11	19,948,254 (GRCm39)	missense	possibly damaging	0.73
R8073:Spred2	UTSW	11	19,958,422 (GRCm39)	missense	probably benign	0.45
R8847:Spred2	UTSW	11	19,951,064 (GRCm39)	missense	probably benign	0.03
R8888:Spred2	UTSW	11	19,951,019 (GRCm39)	missense	probably benign	0.11
R8895:Spred2	UTSW	11	19,951,019 (GRCm39)	missense	probably benign	0.11
X0025:Spred2	UTSW	11	19,948,234 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTACCCGGAACCCTGATTG -3'
(R):5'- GAGTCACAAAGTCACCATGC -3'

Sequencing Primer
(F):5'- AGACCTCGCCCTGATCTCG -3'
(R):5'- TGCGACCTGGACTTGCAGAC -3'

Posted On

2019-09-13