Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Spred1'

102087

Institutional Source

Beutler Lab

Gene Symbol

Spred1

Ensembl Gene

ENSMUSG00000027351

Gene Name

sprouty protein with EVH-1 domain 1, related sequence

Synonyms

5730461F13Rik, Spred-1

MMRRC Submission

039258-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117121374-117182279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117177697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 361 (R361S)

Ref Sequence

ENSEMBL: ENSMUSP00000028829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028829] [ENSMUST00000110901]

AlphaFold

Q924S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028829
AA Change: R361S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: R361S

Domain	Start	End	E-Value	Type
Pfam:WH1	10	120	9.3e-15	PFAM
Pfam:Sprouty	332	437	6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110901

SMART Domains

Protein: ENSMUSP00000106526
Gene: ENSMUSG00000027351

Domain	Start	End	E-Value	Type
Pfam:WH1	9	120	2.5e-15	PFAM

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: This gene encodes a membrane-associated protein that is phosphorylated by tyrosine kinases in response to growth factors. The encoded protein acts as a negative regulator of the mitogen-activated protein (MAP) kinase signaling pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mice display increased airway hyperresponsiveness, eosinophilia, a kinked tail, shortened face, impaired spatial learning and memory, and altered CNS transmission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629		probably null	Het
Ddx5	T	C	11: 106,783,979		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Galnt17	G	T	5: 131,111,742	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024		probably benign	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Senp2	T	C	16: 22,011,504	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably damaging	Het

Other mutations in Spred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Spred1	APN	2	117177858	missense	probably damaging	1.00
IGL01838:Spred1	APN	2	117177581	missense	probably benign	0.01
R0482:Spred1	UTSW	2	117152978	splice site	probably null
R1293:Spred1	UTSW	2	117177408	missense	probably damaging	1.00
R1617:Spred1	UTSW	2	117175347	missense	probably benign	0.00
R3499:Spred1	UTSW	2	117175386	missense	probably benign
R4711:Spred1	UTSW	2	117175385	missense	probably benign	0.00
R5137:Spred1	UTSW	2	117163571	missense	probably damaging	1.00
R5162:Spred1	UTSW	2	117177621	missense	possibly damaging	0.84
R5517:Spred1	UTSW	2	117177714	missense	probably damaging	0.99
R5665:Spred1	UTSW	2	117153005	nonsense	probably null
R7577:Spred1	UTSW	2	117177325	missense	probably benign	0.09
R7769:Spred1	UTSW	2	117177449	missense	probably benign
R9233:Spred1	UTSW	2	117172163	missense	unknown
R9292:Spred1	UTSW	2	117175351	missense	probably benign	0.11
R9465:Spred1	UTSW	2	117153167	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTATTTAAGACACAGCCTCCCTCG -3'
(R):5'- GCAGCCTTATGTTTCCCACCACAG -3'

Sequencing Primer
(F):5'- AGCCTCCCTCGTTAAAATTTAAGTC -3'
(R):5'- TGGCACATTCTCAAAGGGAC -3'

Posted On

2014-01-15