Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Spry2'

32720

Institutional Source

Beutler Lab

Gene Symbol

Spry2

Ensembl Gene

ENSMUSG00000022114

Gene Name

sprouty RTK signaling antagonist 2

Synonyms

sprouty2

MMRRC Submission

038311-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0016 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106129381-106134253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106130731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 152 (V152M)

Ref Sequence

ENSEMBL: ENSMUSP00000022709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022709]

AlphaFold

Q9QXV8

Predicted Effect

probably benign
Transcript: ENSMUST00000022709
AA Change: V152M

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022709
Gene: ENSMUSG00000022114
AA Change: V152M

Domain	Start	End	E-Value	Type
low complexity region	107	130	N/A	INTRINSIC
Pfam:Sprouty	183	301	2.8e-38	PFAM

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit enteric nerve hyperplasia which led to esophangeal achalasia and intestinal pseudo-obstruction. Mice also have intermediate to severe hearing loss with abnormalities in the organ of Corti and about half die prematurely. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,333,959 (GRCm39)	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,915 (GRCm39)	I291F	probably damaging	Het
Aspm	G	C	1: 139,407,282 (GRCm39)	Q2056H	probably benign	Het
C7	A	T	15: 5,076,406 (GRCm39)	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844 (GRCm39)	Q152L	probably null	Het
Cdh16	T	A	8: 105,344,264 (GRCm39)	T92S	probably benign	Het
Chrd	G	C	16: 20,553,058 (GRCm39)	V162L	possibly damaging	Het
Cpne8	A	G	15: 90,385,608 (GRCm39)		probably benign	Het
Cspg4b	T	C	13: 113,502,639 (GRCm39)	Y115H	probably damaging	Het
Cyp2j7	T	A	4: 96,090,384 (GRCm39)	I347F	probably damaging	Het
Cyp4a10	A	T	4: 115,378,304 (GRCm39)	Q130L	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Dgkd	T	C	1: 87,845,674 (GRCm39)	S294P	probably benign	Het
Dnah8	A	G	17: 30,882,290 (GRCm39)	I621V	probably benign	Het
Dync2h1	A	G	9: 7,144,346 (GRCm39)		probably benign	Het
Echdc1	A	T	10: 29,198,417 (GRCm39)		probably benign	Het
Elovl3	T	A	19: 46,120,597 (GRCm39)	F30Y	probably damaging	Het
Fa2h	T	C	8: 112,120,146 (GRCm39)	Y80C	probably damaging	Het
Fgd3	C	T	13: 49,450,085 (GRCm39)	D55N	probably benign	Het
Fhod1	T	C	8: 106,058,287 (GRCm39)	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,589,925 (GRCm39)		probably benign	Het
Gm17067	A	T	7: 42,358,046 (GRCm39)	I152K	probably benign	Het
Gvin3	G	A	7: 106,202,453 (GRCm39)	L264F	probably benign	Het
Kif27	A	G	13: 58,502,528 (GRCm39)	V50A	probably damaging	Het
Kpna2	T	C	11: 106,881,912 (GRCm39)	T305A	probably benign	Het
Krtap22-2	A	G	16: 88,807,407 (GRCm39)		probably benign	Het
Lrp2bp	T	A	8: 46,465,068 (GRCm39)	F62L	probably damaging	Het
Marf1	G	A	16: 13,970,129 (GRCm39)	H197Y	probably damaging	Het
Mob3b	A	G	4: 35,083,947 (GRCm39)	F81L	probably benign	Het
Mon2	C	T	10: 122,871,451 (GRCm39)	V389M	probably damaging	Het
Myef2l	A	T	3: 10,154,379 (GRCm39)	M383L	possibly damaging	Het
Myh8	A	G	11: 67,189,351 (GRCm39)	K1176E	probably damaging	Het
Naf1	T	C	8: 67,341,707 (GRCm39)		probably benign	Het
Nckap1l	A	G	15: 103,384,063 (GRCm39)	T554A	probably benign	Het
Oog3	A	G	4: 143,884,641 (GRCm39)	Y432H	probably damaging	Het
Paxbp1	A	T	16: 90,832,924 (GRCm39)		probably benign	Het
Phf20	A	T	2: 156,109,114 (GRCm39)	K154*	probably null	Het
Pip4p1	C	T	14: 51,166,351 (GRCm39)	R213Q	probably damaging	Het
Plekhj1	T	C	10: 80,632,250 (GRCm39)	D74G	possibly damaging	Het
Plpp4	T	C	7: 128,925,148 (GRCm39)	C128R	probably damaging	Het
Rcan3	A	T	4: 135,145,689 (GRCm39)		probably null	Het
Sh3rf1	T	A	8: 61,827,172 (GRCm39)	M642K	probably benign	Het
Slc7a1	A	G	5: 148,271,393 (GRCm39)	V522A	probably benign	Het
Sorbs1	A	G	19: 40,303,182 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,277,200 (GRCm39)	M349T	possibly damaging	Het
Stag3	A	G	5: 138,289,643 (GRCm39)	H271R	possibly damaging	Het
Stat4	T	C	1: 52,107,939 (GRCm39)	V136A	probably benign	Het
Stc2	A	T	11: 31,310,177 (GRCm39)	D286E	probably benign	Het
Stk31	T	C	6: 49,414,311 (GRCm39)	Y482H	probably damaging	Het
Tasor2	A	C	13: 3,635,170 (GRCm39)		probably null	Het
Ticrr	C	T	7: 79,343,540 (GRCm39)	P1135L	probably benign	Het
Trim27	A	T	13: 21,375,399 (GRCm39)	E310V	probably benign	Het
Uvrag	T	C	7: 98,641,188 (GRCm39)	K284R	probably benign	Het
Vmn1r78	A	C	7: 11,887,279 (GRCm39)	S297R	probably benign	Het
Xylt2	A	G	11: 94,560,466 (GRCm39)	S270P	probably damaging	Het
Zfhx3	T	C	8: 109,676,810 (GRCm39)	M2620T	probably benign	Het
Zkscan2	C	A	7: 123,099,219 (GRCm39)		probably benign	Het
Zwint	T	C	10: 72,493,030 (GRCm39)		probably benign	Het

Other mutations in Spry2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Spry2	APN	14	106,130,488 (GRCm39)	missense	probably damaging	1.00
Eagle	UTSW	14	106,130,791 (GRCm39)	nonsense	probably null
Osprey	UTSW	14	106,130,418 (GRCm39)	missense	possibly damaging	0.92
G1citation:Spry2	UTSW	14	106,130,791 (GRCm39)	nonsense	probably null
R0594:Spry2	UTSW	14	106,130,744 (GRCm39)	missense	possibly damaging	0.50
R0843:Spry2	UTSW	14	106,130,524 (GRCm39)	missense	probably damaging	1.00
R0943:Spry2	UTSW	14	106,131,021 (GRCm39)	missense	probably damaging	1.00
R1186:Spry2	UTSW	14	106,130,341 (GRCm39)	missense	probably damaging	1.00
R4052:Spry2	UTSW	14	106,130,635 (GRCm39)	missense	probably damaging	1.00
R5355:Spry2	UTSW	14	106,130,712 (GRCm39)	missense	probably damaging	0.97
R6306:Spry2	UTSW	14	106,130,418 (GRCm39)	missense	possibly damaging	0.92
R6822:Spry2	UTSW	14	106,130,791 (GRCm39)	nonsense	probably null
R7347:Spry2	UTSW	14	106,130,946 (GRCm39)	missense	probably damaging	1.00
R8424:Spry2	UTSW	14	106,130,836 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACTGCTTGTCACAGATCCAGTC -3'
(R):5'- GGATCAGATCAGAGCCATCCGAAAC -3'

Sequencing Primer
(F):5'- GTCACAGATCCAGTCCGACG -3'
(R):5'- TGAAAGACTCCACGGTCTGC -3'

Posted On

2013-05-09