Incidental Mutation 'R5309:Shoc2'
ID404752
Institutional Source Beutler Lab
Gene Symbol Shoc2
Ensembl Gene ENSMUSG00000024976
Gene Namesoc-2 (suppressor of clear) homolog (C. elegans)
SynonymsSur-8
MMRRC Submission 042892-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5309 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location53944306-54033268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53987733 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T C 7: 118,813,576 I629T probably damaging Het
A630073D07Rik T C 6: 132,626,577 Q72R unknown Het
Abca15 T C 7: 120,345,369 V409A probably damaging Het
Abcg3 A C 5: 104,936,599 C577G possibly damaging Het
Adamtsl5 A T 10: 80,345,148 probably benign Het
Adgrg3 G A 8: 95,039,864 V388I probably benign Het
Ank2 T C 3: 126,959,768 Q288R probably damaging Het
Ccdc173 T C 2: 69,787,258 T60A possibly damaging Het
Cdc45 C T 16: 18,795,897 R205H probably damaging Het
Cdh3 A G 8: 106,539,020 T232A probably damaging Het
Cntnap5c A T 17: 58,359,254 E1093V probably benign Het
Cwh43 A G 5: 73,416,767 H258R probably benign Het
Cyp2j6 T A 4: 96,535,556 I192F probably damaging Het
Dnaaf5 T A 5: 139,152,862 V266E probably damaging Het
Egfr G A 11: 16,911,703 G1161S probably benign Het
Ehmt1 A G 2: 24,884,195 V201A probably damaging Het
Exoc7 C A 11: 116,305,027 E28* probably null Het
Fam118a C T 15: 85,050,755 T195M probably damaging Het
Fancg A G 4: 43,003,019 F613L probably benign Het
Fbxo10 A T 4: 45,042,036 I731N possibly damaging Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Gfm2 G A 13: 97,163,151 A406T probably damaging Het
Gnal G A 18: 67,213,107 R219K possibly damaging Het
Helz2 T A 2: 181,234,846 E1285V probably benign Het
Ighv1-74 A G 12: 115,802,881 S39P probably damaging Het
Ipo11 T C 13: 106,833,973 probably benign Het
Klc1 A G 12: 111,795,621 K575R possibly damaging Het
Larp1 T C 11: 58,050,808 V689A possibly damaging Het
Lman1l A T 9: 57,611,077 L343Q probably damaging Het
Mki67 A T 7: 135,700,830 V825E probably damaging Het
Mmp9 T A 2: 164,950,795 probably benign Het
Myog A G 1: 134,290,326 K91E probably damaging Het
Nfil3 A T 13: 52,967,620 V416E probably damaging Het
Nup160 G T 2: 90,732,832 E1314* probably null Het
Olfr1277 T G 2: 111,270,310 D19A probably benign Het
Olfr1284 T C 2: 111,379,834 V278A possibly damaging Het
Olfr790 T A 10: 129,501,514 V210E probably damaging Het
Olfr792 A C 10: 129,541,265 M243L probably benign Het
Osbpl8 T A 10: 111,270,557 V275E probably benign Het
Osbpl9 A G 4: 109,066,155 S520P probably damaging Het
Ppp4r4 T A 12: 103,606,888 probably null Het
Proz T C 8: 13,061,049 L7P probably damaging Het
Ptpn13 G A 5: 103,541,053 S904N probably damaging Het
Rap1gds1 A G 3: 138,958,628 L322P probably damaging Het
Rnf5 A G 17: 34,601,588 F175S probably benign Het
Sema4a G A 3: 88,437,036 S636F probably damaging Het
Sfrp2 A G 3: 83,769,401 D193G probably damaging Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slc10a6 A T 5: 103,609,092 C269S probably damaging Het
Slc34a2 A G 5: 53,069,488 E651G probably damaging Het
Snx13 C T 12: 35,144,325 Q956* probably null Het
Spg21 A G 9: 65,468,802 I31V probably benign Het
Srpk2 T C 5: 23,525,718 K268E probably damaging Het
Supt16 T C 14: 52,162,698 E996G probably damaging Het
Syf2 A G 4: 134,936,069 D184G probably benign Het
Tmem45a2 T C 16: 57,039,007 D287G possibly damaging Het
Utrn A T 10: 12,727,769 D627E probably damaging Het
Vmn1r170 T A 7: 23,606,455 I94N probably damaging Het
Vmn2r103 A T 17: 19,793,034 N139I probably benign Het
Vmn2r15 T A 5: 109,293,090 I301F probably damaging Het
Zfp949 A C 9: 88,567,183 T14P possibly damaging Het
Other mutations in Shoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02498:Shoc2 APN 19 54027776 nonsense probably null
IGL02660:Shoc2 APN 19 53988021 missense probably benign
IGL02880:Shoc2 APN 19 54031094 missense probably benign 0.13
IGL03024:Shoc2 APN 19 54003027 missense probably benign
R1480:Shoc2 UTSW 19 53987771 missense probably benign 0.09
R4400:Shoc2 UTSW 19 54031229 missense probably benign 0.02
R4468:Shoc2 UTSW 19 54026414 missense probably damaging 0.98
R4765:Shoc2 UTSW 19 53988303 missense probably benign 0.00
R5408:Shoc2 UTSW 19 53988125 missense probably benign
R5745:Shoc2 UTSW 19 54029892 missense probably benign 0.09
R5991:Shoc2 UTSW 19 54003049 missense probably damaging 1.00
R6891:Shoc2 UTSW 19 53988117 missense probably benign 0.00
R7493:Shoc2 UTSW 19 53988036 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AGCGCACCACTTCTTCATGC -3'
(R):5'- GCTCCTTAATGACCTCAGCATTG -3'

Sequencing Primer
(F):5'- CCAACCCTCTTTGACTGGGAAG -3'
(R):5'- CTAGTGCCGGGTGCTGG -3'
Posted On2016-07-22