Mutagenetix > Incidental Mutation

Incidental Mutation 'R4082:Rspo2'

316960

Institutional Source

Beutler Lab

Gene Symbol

Rspo2

Ensembl Gene

ENSMUSG00000051920

Gene Name

R-spondin 2

Synonyms

ftls, 2610028F08Rik

MMRRC Submission

041624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42884190-43034222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42885933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 241 (V241G)

Ref Sequence

ENSEMBL: ENSMUSP00000154600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063492] [ENSMUST00000226810]

AlphaFold

Q8BFU0

Predicted Effect

probably benign
Transcript: ENSMUST00000063492
AA Change: V241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067325
Gene: ENSMUSG00000051920
AA Change: V241G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FU	37	84	1.95e0	SMART
FU	90	134	3.7e-8	SMART
TSP1	147	204	7.45e-4	SMART
low complexity region	207	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226810
AA Change: V241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	G	19: 24,043,366 (GRCm39)		noncoding transcript	Het
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Abca12	G	T	1: 71,306,622 (GRCm39)	T2028K	possibly damaging	Het
Abt1	T	C	13: 23,606,316 (GRCm39)	T213A	probably benign	Het
Adcy1	A	C	11: 7,014,117 (GRCm39)	Y173S	probably damaging	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Akr1d1	G	A	6: 37,534,424 (GRCm39)	V193M	probably damaging	Het
Cars1	C	T	7: 143,123,234 (GRCm39)	E461K	probably damaging	Het
Ccdc80	T	C	16: 44,943,290 (GRCm39)	L800P	probably damaging	Het
Ccl22	A	G	8: 95,473,536 (GRCm39)	Y27C	probably damaging	Het
Cdc123	G	A	2: 5,815,566 (GRCm39)		probably benign	Het
Cldn11	A	T	3: 31,217,278 (GRCm39)	I149F	probably benign	Het
Col14a1	T	C	15: 55,300,429 (GRCm39)	Y986H	unknown	Het
Col6a3	G	A	1: 90,749,605 (GRCm39)	L410F	probably damaging	Het
Crocc	T	C	4: 140,761,282 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,433,374 (GRCm39)		probably benign	Het
Cwc25	G	T	11: 97,644,744 (GRCm39)	Q205K	probably benign	Het
Cyp2e1	T	C	7: 140,350,991 (GRCm39)	I321T	possibly damaging	Het
Eps8l1	T	A	7: 4,473,797 (GRCm39)		probably null	Het
Fasl	C	T	1: 161,609,420 (GRCm39)	V189M	probably damaging	Het
Fbxw5	T	C	2: 25,394,643 (GRCm39)		probably null	Het
Flg2	A	C	3: 93,110,828 (GRCm39)	E952A	unknown	Het
Gpd1l	A	T	9: 114,746,146 (GRCm39)	L90Q	probably damaging	Het
Grik4	G	T	9: 42,509,180 (GRCm39)	F414L	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl3	C	T	13: 58,166,611 (GRCm39)	G407S	probably null	Het
Lmbr1	T	C	5: 29,463,753 (GRCm39)	E157G	probably damaging	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Mrpl20	A	T	4: 155,892,970 (GRCm39)	D67V	probably damaging	Het
Myo15a	A	G	11: 60,378,022 (GRCm39)	T1346A	possibly damaging	Het
Naip5	A	T	13: 100,382,338 (GRCm39)	C124S	probably damaging	Het
Or10ag2	T	A	2: 87,248,801 (GRCm39)	Y134*	probably null	Het
Or13n4	T	C	7: 106,423,245 (GRCm39)	T163A	possibly damaging	Het
Or52u1	T	A	7: 104,237,830 (GRCm39)	V290D	probably damaging	Het
Osbp	A	G	19: 11,956,030 (GRCm39)	D385G	probably benign	Het
Paip1	G	A	13: 119,593,540 (GRCm39)	D460N	probably damaging	Het
Pde3b	T	C	7: 114,093,823 (GRCm39)	S356P	probably benign	Het
Pms2	A	G	5: 143,867,837 (GRCm39)	M814V	probably damaging	Het
Polg	C	A	7: 79,114,576 (GRCm39)	K128N	probably damaging	Het
Polk	G	T	13: 96,620,181 (GRCm39)	T694K	probably benign	Het
Pom121	T	C	5: 135,417,491 (GRCm39)	K342R	unknown	Het
Pou5f2	T	C	13: 78,174,024 (GRCm39)	L322P	probably damaging	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptpn6	T	C	6: 124,705,382 (GRCm39)	D183G	probably damaging	Het
Pygb	G	A	2: 150,668,391 (GRCm39)		probably null	Het
Ralgds	C	T	2: 28,442,283 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,130,927 (GRCm39)	T1079A	possibly damaging	Het
Smg1	T	A	7: 117,759,469 (GRCm39)		probably benign	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sufu	A	G	19: 46,413,541 (GRCm39)	M141V	probably damaging	Het
Sytl2	T	A	7: 90,057,635 (GRCm39)	V831D	possibly damaging	Het
Tc2n	T	C	12: 101,617,414 (GRCm39)	E335G	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmcc1	T	A	6: 116,020,441 (GRCm39)	H118L	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r209	A	C	13: 22,989,785 (GRCm39)	L302V	probably null	Het
Vmn2r117	C	T	17: 23,679,080 (GRCm39)	V715I	probably benign	Het
Vopp1	A	T	6: 57,766,964 (GRCm39)	Y37*	probably null	Het
Xrn1	A	G	9: 95,863,973 (GRCm39)	T528A	probably benign	Het
Zfhx2	T	C	14: 55,302,662 (GRCm39)	D1774G	probably benign	Het
Zfp955b	T	A	17: 33,521,129 (GRCm39)	D199E	probably benign	Het
Zp2	T	C	7: 119,734,475 (GRCm39)	S525G	probably benign	Het

Other mutations in Rspo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1505:Rspo2	UTSW	15	42,939,239 (GRCm39)	missense	probably damaging	1.00
R1866:Rspo2	UTSW	15	42,939,332 (GRCm39)	missense	probably damaging	1.00
R2913:Rspo2	UTSW	15	42,941,510 (GRCm39)	missense	probably benign	0.00
R4256:Rspo2	UTSW	15	42,939,307 (GRCm39)	missense	probably benign	0.43
R4257:Rspo2	UTSW	15	42,939,307 (GRCm39)	missense	probably benign	0.43
R4422:Rspo2	UTSW	15	43,033,150 (GRCm39)	missense	probably benign
R4715:Rspo2	UTSW	15	42,939,300 (GRCm39)	nonsense	probably null
R4810:Rspo2	UTSW	15	43,033,216 (GRCm39)	missense	probably benign	0.24
R4829:Rspo2	UTSW	15	42,956,583 (GRCm39)	nonsense	probably null
R5720:Rspo2	UTSW	15	43,033,210 (GRCm39)	missense	probably benign	0.13
R5828:Rspo2	UTSW	15	42,939,283 (GRCm39)	missense	probably damaging	1.00
R7487:Rspo2	UTSW	15	42,941,510 (GRCm39)	missense	probably benign	0.25
R7571:Rspo2	UTSW	15	43,033,372 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TAACGCTGAGTCCATGCTTGG -3'
(R):5'- CCATAGGTGATGTTTTCCAGATGG -3'

Sequencing Primer
(F):5'- GGCACCTCCCTCTGCAG -3'
(R):5'- CCAGATGGGCTTTGTACAAAATTC -3'

Posted On

2015-05-15