Incidental Mutation 'R4400:Shoc2'
ID326610
Institutional Source Beutler Lab
Gene Symbol Shoc2
Ensembl Gene ENSMUSG00000024976
Gene Namesoc-2 (suppressor of clear) homolog (C. elegans)
SynonymsSur-8
MMRRC Submission 041131-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4400 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location53944306-54033268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54031229 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 568 (I568V)
Ref Sequence ENSEMBL: ENSMUSP00000127932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025932] [ENSMUST00000169861]
Predicted Effect probably benign
Transcript: ENSMUST00000025932
AA Change: I568V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: I568V

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: I568V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: I568V

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,388,810 F189L probably damaging Het
Atp8a1 A T 5: 67,764,878 Y372N probably benign Het
Bves T C 10: 45,369,293 V354A probably benign Het
Cd79b A T 11: 106,312,010 Y195* probably null Het
Cog6 A C 3: 53,012,941 D131E probably benign Het
Elp3 C T 14: 65,548,090 E421K possibly damaging Het
Fbxw28 A T 9: 109,328,310 F237Y probably damaging Het
Fezf1 T C 6: 23,247,710 N122S probably benign Het
Galnt2 A G 8: 124,324,303 K157E probably damaging Het
Git2 T C 5: 114,733,909 E141G possibly damaging Het
Gm26888 T C 11: 119,154,027 silent Het
Gnrhr T C 5: 86,182,249 probably null Het
Hoxd13 A T 2: 74,670,015 D300V probably damaging Het
Hspg2 G A 4: 137,548,122 A2748T probably benign Het
Hyal2 A G 9: 107,570,853 N235S probably damaging Het
Itgam T G 7: 128,081,658 L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Matr3 A T 18: 35,583,916 K591N possibly damaging Het
Mep1a T A 17: 43,475,006 I731F possibly damaging Het
Mkl1 G A 15: 81,020,923 Q103* probably null Het
Muc5b A G 7: 141,861,387 D2690G possibly damaging Het
Nlrc5 A G 8: 94,494,353 Q1140R probably benign Het
Olfr205 C T 16: 59,328,598 V304I probably benign Het
Olfr292 A G 7: 86,694,590 I45V probably benign Het
Olfr711 A G 7: 106,972,002 L114P probably damaging Het
Plcl1 T C 1: 55,715,577 F1028L probably damaging Het
Plpp2 A G 10: 79,527,493 V106A possibly damaging Het
Prpf8 A G 11: 75,490,702 T255A possibly damaging Het
Spopl C T 2: 23,517,945 V241M probably damaging Het
Ssrp1 A T 2: 85,037,941 D9V probably damaging Het
Strn3 A T 12: 51,648,100 D293E possibly damaging Het
Tbx3 G T 5: 119,680,571 D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 S416P possibly damaging Het
Trim60 G T 8: 65,001,212 Y128* probably null Het
Tspoap1 T C 11: 87,775,603 S947P probably damaging Het
Ttn A T 2: 76,782,395 S17113R probably damaging Het
Ubqln1 T A 13: 58,193,388 N183I probably damaging Het
Ubr4 A G 4: 139,461,856 N3917D possibly damaging Het
Ucp2 A G 7: 100,499,350 *310W probably null Het
Wdr76 A G 2: 121,528,833 M218V probably damaging Het
Zranb3 A C 1: 127,956,655 L998R possibly damaging Het
Zxdc G A 6: 90,369,810 G51E probably 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
R4468:Shoc2 UTSW 19 54026414 missense probably damaging 0.98
R4765:Shoc2 UTSW 19 53988303 missense probably benign 0.00
R5309:Shoc2 UTSW 19 53987733 missense probably benign
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'- GATGTCATTGGTATAGAAAGTGACC -3'
(R):5'- GGCTATGATTCCTCTATTAGCAGAAAC -3'

Sequencing Primer
(F):5'- CTCTAGTTGATTTCAATATGCTGCAG -3'
(R):5'- TTAGCAGAAACACATAATGCAGTC -3'
Posted On2015-07-07