Mutagenetix > Incidental Mutation

Incidental Mutation 'R5309:Shoc2'

404752

Institutional Source

Beutler Lab

Gene Symbol

Shoc2

Ensembl Gene

ENSMUSG00000024976

Gene Name

Shoc2, leucine rich repeat scaffold protein

Synonyms

Sur-8, soc-2 (suppressor of clear) homolog (C. elegans)

MMRRC Submission

042892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53932737-54021564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53976164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 18 (V18A)

Ref Sequence

ENSEMBL: ENSMUSP00000127932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025932] [ENSMUST00000169861]

AlphaFold

O88520

Predicted Effect

probably benign
Transcript: ENSMUST00000025932
AA Change: V18A

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

SMART Domains

Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: V18A

Domain	Start	End	E-Value	Type
low complexity region	35	60	N/A	INTRINSIC
LRR	122	144	1.33e-1	SMART
LRR	145	167	6.05e0	SMART
LRR	168	190	4.7e0	SMART
LRR	191	213	7.57e0	SMART
LRR	214	235	3.55e1	SMART
LRR_TYP	237	260	1.1e-2	SMART
low complexity region	266	278	N/A	INTRINSIC
LRR	283	306	1.62e0	SMART
LRR	307	329	3.97e0	SMART
LRR	330	353	1.12e2	SMART
LRR	354	377	1.22e2	SMART
LRR	401	423	8.73e1	SMART
LRR	424	446	4.34e-1	SMART
LRR	447	469	4.65e-1	SMART
LRR	470	492	8.09e-1	SMART
LRR	493	514	2.82e0	SMART
LRR	516	540	5.89e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169861
AA Change: V18A

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

SMART Domains

Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: V18A

Domain	Start	End	E-Value	Type
low complexity region	35	60	N/A	INTRINSIC
LRR	122	144	1.33e-1	SMART
LRR	145	167	6.05e0	SMART
LRR	168	190	4.7e0	SMART
LRR	191	213	7.57e0	SMART
LRR	214	235	3.55e1	SMART
LRR_TYP	237	260	1.1e-2	SMART
low complexity region	266	278	N/A	INTRINSIC
LRR	283	306	1.62e0	SMART
LRR	307	329	3.97e0	SMART
LRR	330	353	1.12e2	SMART
LRR	354	377	1.22e2	SMART
LRR	401	423	8.73e1	SMART
LRR	424	446	4.34e-1	SMART
LRR	447	469	4.65e-1	SMART
LRR	470	492	8.09e-1	SMART
LRR	493	514	2.82e0	SMART
LRR	516	540	5.89e1	SMART

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
PHENOTYPE: Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,540 (GRCm39)	Q72R	unknown	Het
Abca15	T	C	7: 119,944,592 (GRCm39)	V409A	probably damaging	Het
Abcg3	A	C	5: 105,084,465 (GRCm39)	C577G	possibly damaging	Het
Adamtsl5	A	T	10: 80,180,982 (GRCm39)		probably benign	Het
Adgrg3	G	A	8: 95,766,492 (GRCm39)	V388I	probably benign	Het
Ank2	T	C	3: 126,753,417 (GRCm39)	Q288R	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdh3	A	G	8: 107,265,652 (GRCm39)	T232A	probably damaging	Het
Cfap210	T	C	2: 69,617,602 (GRCm39)	T60A	possibly damaging	Het
Cntnap5c	A	T	17: 58,666,249 (GRCm39)	E1093V	probably benign	Het
Cplx3	A	T	9: 57,518,360 (GRCm39)	L343Q	probably damaging	Het
Cwh43	A	G	5: 73,574,110 (GRCm39)	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,423,793 (GRCm39)	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,138,617 (GRCm39)	V266E	probably damaging	Het
Egfr	G	A	11: 16,861,703 (GRCm39)	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,774,207 (GRCm39)	V201A	probably damaging	Het
Exoc7	C	A	11: 116,195,853 (GRCm39)	E28*	probably null	Het
Fam118a	C	T	15: 84,934,956 (GRCm39)	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019 (GRCm39)	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gnal	G	A	18: 67,346,178 (GRCm39)	R219K	possibly damaging	Het
Helz2	T	A	2: 180,876,639 (GRCm39)	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,766,501 (GRCm39)	S39P	probably damaging	Het
Ipo11	T	C	13: 106,970,481 (GRCm39)		probably benign	Het
Klc1	A	G	12: 111,762,055 (GRCm39)	K575R	possibly damaging	Het
Larp1	T	C	11: 57,941,634 (GRCm39)	V689A	possibly damaging	Het
Mki67	A	T	7: 135,302,559 (GRCm39)	V825E	probably damaging	Het
Mmp9	T	A	2: 164,792,715 (GRCm39)		probably benign	Het
Myog	A	G	1: 134,218,064 (GRCm39)	K91E	probably damaging	Het
Nfil3	A	T	13: 53,121,656 (GRCm39)	V416E	probably damaging	Het
Nup160	G	T	2: 90,563,176 (GRCm39)	E1314*	probably null	Het
Or4g17	T	C	2: 111,210,179 (GRCm39)	V278A	possibly damaging	Het
Or4k35	T	G	2: 111,100,655 (GRCm39)	D19A	probably benign	Het
Or6c66b	A	C	10: 129,377,134 (GRCm39)	M243L	probably benign	Het
Or6c75	T	A	10: 129,337,383 (GRCm39)	V210E	probably damaging	Het
Osbpl8	T	A	10: 111,106,418 (GRCm39)	V275E	probably benign	Het
Osbpl9	A	G	4: 108,923,352 (GRCm39)	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,573,147 (GRCm39)		probably null	Het
Proz	T	C	8: 13,111,049 (GRCm39)	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,688,919 (GRCm39)	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,664,389 (GRCm39)	L322P	probably damaging	Het
Rnf5	A	G	17: 34,820,562 (GRCm39)	F175S	probably benign	Het
Sema4a	G	A	3: 88,344,343 (GRCm39)	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,676,708 (GRCm39)	D193G	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,756,958 (GRCm39)	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,226,830 (GRCm39)	E651G	probably damaging	Het
Snx13	C	T	12: 35,194,324 (GRCm39)	Q956*	probably null	Het
Spg21	A	G	9: 65,376,084 (GRCm39)	I31V	probably benign	Het
Srpk2	T	C	5: 23,730,716 (GRCm39)	K268E	probably damaging	Het
Supt16	T	C	14: 52,400,155 (GRCm39)	E996G	probably damaging	Het
Syf2	A	G	4: 134,663,380 (GRCm39)	D184G	probably benign	Het
Tmem45a2	T	C	16: 56,859,370 (GRCm39)	D287G	possibly damaging	Het
Utrn	A	T	10: 12,603,513 (GRCm39)	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,880 (GRCm39)	I94N	probably damaging	Het
Vmn2r103	A	T	17: 20,013,296 (GRCm39)	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Vps35l	T	C	7: 118,412,799 (GRCm39)	I629T	probably damaging	Het
Zfp949	A	C	9: 88,449,236 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Shoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02498:Shoc2	APN	19	54,016,207 (GRCm39)	nonsense	probably null
IGL02660:Shoc2	APN	19	53,976,452 (GRCm39)	missense	probably benign
IGL02880:Shoc2	APN	19	54,019,525 (GRCm39)	missense	probably benign	0.13
IGL03024:Shoc2	APN	19	53,991,458 (GRCm39)	missense	probably benign
R1480:Shoc2	UTSW	19	53,976,202 (GRCm39)	missense	probably benign	0.09
R4400:Shoc2	UTSW	19	54,019,660 (GRCm39)	missense	probably benign	0.02
R4468:Shoc2	UTSW	19	54,014,845 (GRCm39)	missense	probably damaging	0.98
R4765:Shoc2	UTSW	19	53,976,734 (GRCm39)	missense	probably benign	0.00
R5408:Shoc2	UTSW	19	53,976,556 (GRCm39)	missense	probably benign
R5745:Shoc2	UTSW	19	54,018,323 (GRCm39)	missense	probably benign	0.09
R5991:Shoc2	UTSW	19	53,991,480 (GRCm39)	missense	probably damaging	1.00
R6891:Shoc2	UTSW	19	53,976,548 (GRCm39)	missense	probably benign	0.00
R7493:Shoc2	UTSW	19	53,976,467 (GRCm39)	missense	probably benign	0.16
R8444:Shoc2	UTSW	19	53,976,503 (GRCm39)	missense	probably damaging	1.00
R9135:Shoc2	UTSW	19	53,976,310 (GRCm39)	missense	probably benign
R9213:Shoc2	UTSW	19	54,016,231 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AGCGCACCACTTCTTCATGC -3'
(R):5'- GCTCCTTAATGACCTCAGCATTG -3'

Sequencing Primer
(F):5'- CCAACCCTCTTTGACTGGGAAG -3'
(R):5'- CTAGTGCCGGGTGCTGG -3'

Posted On

2016-07-22