Mutagenetix > Incidental Mutation

Incidental Mutation 'R7493:Shoc2'

580966

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

045567-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7493 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53932737-54021564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53976467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 119 (V119A)

Ref Sequence

ENSEMBL: ENSMUSP00000025932 (fasta)

Gene Model

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

AlphaFold

O88520

Predicted Effect

probably benign
Transcript: ENSMUST00000025932
AA Change: V119A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: V119A

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: V119A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: V119A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,257 (GRCm39)	L236P	possibly damaging	Het
Abca7	T	A	10: 79,837,896 (GRCm39)	D488E	probably damaging	Het
Adora2a	A	G	10: 75,169,423 (GRCm39)	K296E	possibly damaging	Het
Aopep	A	G	13: 63,163,345 (GRCm39)	D122G	probably benign	Het
Atp13a4	T	A	16: 29,290,774 (GRCm39)	E225V		Het
Bpifb2	A	G	2: 153,731,397 (GRCm39)	M258V	possibly damaging	Het
Brd2	G	A	17: 34,341,231 (GRCm39)		probably benign	Het
Btaf1	G	T	19: 36,987,005 (GRCm39)	V1700F	probably damaging	Het
C2cd3	A	G	7: 100,076,433 (GRCm39)	I797V		Het
Ccdc148	T	G	2: 58,899,160 (GRCm39)	E71A	probably damaging	Het
Ccdc18	T	A	5: 108,354,483 (GRCm39)	L1074*	probably null	Het
Ccne2	A	G	4: 11,198,772 (GRCm39)	D215G	probably damaging	Het
Cers6	T	A	2: 68,692,151 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,204,971 (GRCm39)	E110G	probably damaging	Het
Cped1	A	T	6: 22,215,512 (GRCm39)	D682V	probably damaging	Het
Crb1	A	T	1: 139,164,768 (GRCm39)	C1180S	probably damaging	Het
Cyren	A	T	6: 34,851,593 (GRCm39)	L114Q	probably damaging	Het
Echdc3	A	T	2: 6,194,368 (GRCm39)	L229Q	probably damaging	Het
Etfb	C	T	7: 43,104,000 (GRCm39)	P145L	probably damaging	Het
Exoc3l2	G	T	7: 19,203,813 (GRCm39)	R135L		Het
Fam83a	G	A	15: 57,849,569 (GRCm39)	A38T	probably damaging	Het
G6pc2	T	C	2: 69,053,344 (GRCm39)	Y133H	probably benign	Het
Gfy	T	C	7: 44,827,518 (GRCm39)	I193V	probably benign	Het
Ggnbp2	T	C	11: 84,744,899 (GRCm39)	T208A	probably benign	Het
Gigyf1	T	A	5: 137,523,795 (GRCm39)	M1019K	probably damaging	Het
Gm45783	T	C	7: 7,373,599 (GRCm39)	D61G	probably damaging	Het
Golga5	T	C	12: 102,450,835 (GRCm39)		probably null	Het
Ighe	A	G	12: 113,235,023 (GRCm39)	V379A		Het
Itpr3	C	A	17: 27,313,774 (GRCm39)	H573Q	probably benign	Het
Klhl2	A	G	8: 65,202,809 (GRCm39)	L463P	probably damaging	Het
Large1	T	G	8: 73,550,343 (GRCm39)	M619L	probably benign	Het
Limd1	T	A	9: 123,308,748 (GRCm39)	V149E	probably benign	Het
Lyz2	T	C	10: 117,118,144 (GRCm39)	K2E	probably damaging	Het
Man2c1	T	A	9: 57,048,412 (GRCm39)	S858T	probably damaging	Het
Nt5dc1	A	T	10: 34,180,932 (GRCm39)	N439K	probably benign	Het
Or4a2	A	G	2: 89,248,145 (GRCm39)	I204T	probably benign	Het
Or4n4b	G	A	14: 50,536,281 (GRCm39)	L162F	probably benign	Het
Or4p7	T	C	2: 88,222,224 (GRCm39)	V211A	possibly damaging	Het
Or51f1	A	T	7: 102,506,278 (GRCm39)	Y70*	probably null	Het
Or5d43	T	C	2: 88,105,445 (GRCm39)		probably benign	Het
Or7g27	A	C	9: 19,250,109 (GRCm39)	M118L	probably damaging	Het
Otogl	T	C	10: 107,722,843 (GRCm39)	N296S	probably benign	Het
Patj	A	G	4: 98,383,298 (GRCm39)	N789D	probably benign	Het
Pcsk6	A	G	7: 65,693,314 (GRCm39)	D851G	possibly damaging	Het
Peg3	T	C	7: 6,712,723 (GRCm39)	H833R	probably damaging	Het
Pira1	T	C	7: 3,742,023 (GRCm39)	E119G	not run	Het
Plekha5	A	G	6: 140,526,161 (GRCm39)	D933G	probably benign	Het
Pnma1	G	A	12: 84,193,903 (GRCm39)	R267C	probably damaging	Het
Ppp3cb	T	A	14: 20,558,619 (GRCm39)	H481L	probably benign	Het
Prl8a8	T	C	13: 27,695,418 (GRCm39)		probably null	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Ptpro	C	A	6: 137,359,647 (GRCm39)	L406I	probably benign	Het
Rbpj	T	C	5: 53,758,276 (GRCm39)	S18P	probably benign	Het
Rhbg	C	T	3: 88,154,886 (GRCm39)	V173M	probably damaging	Het
Rps6kc1	A	G	1: 190,532,254 (GRCm39)	S583P	probably benign	Het
Ryr1	T	C	7: 28,794,630 (GRCm39)	S1217G	probably benign	Het
S1pr1	A	T	3: 115,505,922 (GRCm39)	I224N	probably damaging	Het
Sall1	C	T	8: 89,757,681 (GRCm39)	D808N	probably benign	Het
Spata31h1	A	T	10: 82,124,798 (GRCm39)	Y2737*	probably null	Het
Spata31h1	T	C	10: 82,152,264 (GRCm39)	Y34C	unknown	Het
Ssh2	A	T	11: 77,328,542 (GRCm39)	E369D	probably benign	Het
Stx1b	C	T	7: 127,406,531 (GRCm39)	V273M	possibly damaging	Het
Syne2	A	G	12: 76,012,654 (GRCm39)	H2615R	probably benign	Het
Tmc8	T	C	11: 117,675,758 (GRCm39)	I225T	probably benign	Het
Tmem126b	A	G	7: 90,121,854 (GRCm39)	I52T	probably benign	Het
Top2b	G	A	14: 16,416,605 (GRCm38)	D1122N	probably benign	Het
Trav13-2	T	A	14: 53,872,363 (GRCm39)	S7T	possibly damaging	Het
Ttc1	A	T	11: 43,636,189 (GRCm39)	L18Q	probably damaging	Het
Ttn	A	T	2: 76,567,553 (GRCm39)	I27780N	probably damaging	Het
Ubfd1	T	C	7: 121,666,635 (GRCm39)	S44P	probably benign	Het
Vmn1r89	A	G	7: 12,953,632 (GRCm39)	K123E	probably damaging	Het
Vmn2r62	A	C	7: 42,437,316 (GRCm39)	F389L	possibly damaging	Het
Vps35l	C	T	7: 118,393,800 (GRCm39)		probably null	Het
Zdhhc11	T	A	13: 74,121,726 (GRCm39)	M79K	possibly damaging	Het
Zfp202	G	T	9: 40,118,640 (GRCm39)	V18F	possibly damaging	Het
Zfp39	A	G	11: 58,781,869 (GRCm39)	F298L	possibly damaging	Het
Znrf1	G	A	8: 112,264,071 (GRCm39)	G100D	probably 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
R5309:Shoc2	UTSW	19	53,976,164 (GRCm39)	missense	probably benign
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
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'- CTCAGGAGGCTTTGGGAAAG -3'
(R):5'- CAAGCATCCGCAGCTTCTTC -3'

Sequencing Primer
(F):5'- AGAAGGAGTCCAGCGCTGC -3'
(R):5'- CCGCAGCTTCTTCAAGTTATCAAGAG -3'

Posted On

2019-10-17