Mutagenetix > Incidental Mutation

Incidental Mutation 'R5991:Shoc2'

482037

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

044171-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53932737-54021564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53991480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 248 (N248K)

Ref Sequence

ENSEMBL: ENSMUSP00000127932 (fasta)

Gene Model

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

AlphaFold

O88520

Predicted Effect

probably damaging
Transcript: ENSMUST00000025932
AA Change: N248K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: N248K

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 damaging
Transcript: ENSMUST00000169861
AA Change: N248K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: N248K

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

0.9486

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,777,032 (GRCm39)	R683Q	probably damaging	Het
Adam8	T	A	7: 139,570,200 (GRCm39)	H69L	probably damaging	Het
Bbs2	G	T	8: 94,824,914 (GRCm39)	R23S	probably benign	Het
Bod1l	A	T	5: 41,974,206 (GRCm39)	C2369*	probably null	Het
Capn11	G	T	17: 45,970,278 (GRCm39)		probably null	Het
Carmil2	A	G	8: 106,418,023 (GRCm39)	Q679R	probably null	Het
Cep120	T	C	18: 53,854,870 (GRCm39)	I422V	probably benign	Het
Cnot7	A	C	8: 40,948,696 (GRCm39)		probably null	Het
Col1a1	T	C	11: 94,828,745 (GRCm39)	V29A	unknown	Het
Dnttip1	A	T	2: 164,596,100 (GRCm39)	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,857,188 (GRCm39)	V497A	probably benign	Het
Ep300	A	G	15: 81,532,667 (GRCm39)	D1635G	unknown	Het
Ercc5	T	A	1: 44,219,990 (GRCm39)	C1087*	probably null	Het
Fap	A	T	2: 62,348,865 (GRCm39)	M517K	probably damaging	Het
Focad	C	A	4: 88,319,256 (GRCm39)	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,820,812 (GRCm39)	P5515L	probably benign	Het
Gpr158	T	C	2: 21,373,319 (GRCm39)	Y85H	probably damaging	Het
Hc	A	G	2: 34,896,117 (GRCm39)	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,268,328 (GRCm39)	M546I	probably damaging	Het
Jup	T	C	11: 100,270,395 (GRCm39)	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,008,741 (GRCm39)	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,385,209 (GRCm39)	E83G	probably damaging	Het
Lyg2	C	T	1: 37,954,800 (GRCm39)		probably null	Het
Mtmr11	T	A	3: 96,075,905 (GRCm39)		probably null	Het
Myct1	A	T	10: 5,554,426 (GRCm39)	R98*	probably null	Het
Nol11	T	C	11: 107,061,971 (GRCm39)	T612A	probably benign	Het
Or2l5	T	C	16: 19,333,507 (GRCm39)	N293S	probably damaging	Het
Or4b1d	T	A	2: 89,968,578 (GRCm39)	K302*	probably null	Het
Or4c113	C	T	2: 88,885,126 (GRCm39)	V215I	probably benign	Het
Or4f61	C	T	2: 111,922,960 (GRCm39)	V29M	probably benign	Het
Or5m9	A	G	2: 85,877,254 (GRCm39)	I143V	probably benign	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,434,561 (GRCm39)	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,431,867 (GRCm39)	R212W	probably benign	Het
Plin3	T	C	17: 56,593,576 (GRCm39)	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,526,820 (GRCm39)	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr1	G	T	7: 28,804,035 (GRCm39)	N584K	probably damaging	Het
Scmh1	T	C	4: 120,379,817 (GRCm39)	V544A	probably benign	Het
Sdk2	G	A	11: 113,834,080 (GRCm39)	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,443,790 (GRCm39)	L270H	probably damaging	Het
Sirpd	G	T	3: 15,385,818 (GRCm39)	A28E	probably benign	Het
Slc25a4	T	C	8: 46,662,373 (GRCm39)	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,413 (GRCm39)	N403S	possibly damaging	Het
Spink10	T	A	18: 62,790,956 (GRCm39)	W7R	probably null	Het
Ssrp1	A	G	2: 84,872,640 (GRCm39)	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,428,043 (GRCm39)		probably benign	Het
Tead3	A	T	17: 28,553,352 (GRCm39)		probably null	Het
Timd4	A	G	11: 46,734,030 (GRCm39)	*344W	probably null	Het
Tmem181a	T	A	17: 6,339,312 (GRCm39)	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733 (GRCm39)	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,136,640 (GRCm39)	V202L	probably damaging	Het
Vmn1r80	A	G	7: 11,927,423 (GRCm39)	T178A	probably benign	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zmym6	T	A	4: 127,002,266 (GRCm39)		probably null	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
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'- CCACAGCATAAGTGTCTTCATTAG -3'
(R):5'- ACAGAAATACCTCCATTGGCAG -3'

Sequencing Primer
(F):5'- AAATGTACTCCCTTGTTTCC -3'
(R):5'- TGCTTTACCAAGAAATAGAACAGTG -3'

Posted On

2017-06-26