Incidental Mutation 'R0427:Cd300lg'
ID38771
Institutional Source Beutler Lab
Gene Symbol Cd300lg
Ensembl Gene ENSMUSG00000017309
Gene NameCD300 molecule like family member G
SynonymsD11Ertd736e, nepmucin, 2310016B05Rik, Clm9
MMRRC Submission 038629-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0427 (G1)
Quality Score106
Status Not validated
Chromosome11
Chromosomal Location102041509-102055620 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102043026 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 33 (V33A)
Ref Sequence ENSEMBL: ENSMUSP00000120921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017453] [ENSMUST00000107163] [ENSMUST00000107164] [ENSMUST00000123895]
Predicted Effect probably damaging
Transcript: ENSMUST00000017453
AA Change: V33A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017453
Gene: ENSMUSG00000017309
AA Change: V33A

DomainStartEndE-ValueType
IG 22 124 1.82e-6 SMART
low complexity region 142 155 N/A INTRINSIC
transmembrane domain 163 185 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107163
AA Change: V33A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102781
Gene: ENSMUSG00000017309
AA Change: V33A

DomainStartEndE-ValueType
IG 22 124 1.82e-6 SMART
internal_repeat_1 154 188 2.12e-12 PROSPERO
internal_repeat_1 180 213 2.12e-12 PROSPERO
low complexity region 226 239 N/A INTRINSIC
transmembrane domain 247 269 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107164
AA Change: V33A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102782
Gene: ENSMUSG00000017309
AA Change: V33A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 22 124 1.82e-6 SMART
low complexity region 270 283 N/A INTRINSIC
transmembrane domain 291 313 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123895
AA Change: V33A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120921
Gene: ENSMUSG00000017309
AA Change: V33A

DomainStartEndE-ValueType
IG 22 124 1.82e-6 SMART
low complexity region 186 199 N/A INTRINSIC
transmembrane domain 207 229 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted allele indicates that this mutation shows no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T G 8: 43,652,456 T51P probably benign Het
Alpk1 A T 3: 127,671,071 V1186E probably damaging Het
Ankfn1 T C 11: 89,405,597 D102G probably damaging Het
Armc2 A G 10: 42,000,410 I127T possibly damaging Het
Atp6v1b2 T C 8: 69,101,432 L87P probably damaging Het
Atp9a T A 2: 168,640,697 probably null Het
BC048679 C G 7: 81,495,245 V123L probably benign Het
Birc7 G A 2: 180,929,514 probably null Het
Btbd9 C T 17: 30,274,942 D492N possibly damaging Het
Cacna1d T A 14: 30,346,817 N155I probably damaging Het
Cep290 A G 10: 100,516,179 D742G probably benign Het
Cep95 A G 11: 106,790,752 N14S probably benign Het
Cfap74 A T 4: 155,441,277 M728L probably benign Het
Ctsll3 T A 13: 60,801,391 T9S probably benign Het
Cyp3a44 A G 5: 145,779,602 S393P possibly damaging Het
Dmbt1 T A 7: 131,040,902 L150* probably null Het
Dnah2 A G 11: 69,452,879 I2868T probably damaging Het
Dopey1 A G 9: 86,507,532 H505R probably damaging Het
Exo1 A G 1: 175,905,953 K781R probably damaging Het
Fam184a A G 10: 53,690,115 Y459H probably damaging Het
Foxp1 C T 6: 98,930,203 D540N probably damaging Het
Fstl5 T A 3: 76,707,727 Y698* probably null Het
Gm13088 A T 4: 143,654,423 N343K probably benign Het
Gm5141 T C 13: 62,774,711 K215E probably damaging Het
Gm7102 A G 19: 61,175,470 Y176H probably damaging Het
Grik5 C A 7: 25,058,498 R386L probably benign Het
Ikbke A T 1: 131,257,910 S620R possibly damaging Het
Kcnh3 A T 15: 99,233,299 M518L probably benign Het
Lrrcc1 G T 3: 14,558,356 A748S probably damaging Het
Mbd5 T G 2: 49,279,079 S1191A probably benign Het
Med27 T C 2: 29,500,271 I70T probably damaging Het
Myh4 A G 11: 67,258,653 D1737G probably damaging Het
Myo5a A G 9: 75,174,196 D1021G probably benign Het
Ncor1 T C 11: 62,410,920 E212G probably damaging Het
Neb A T 2: 52,243,884 N3362K possibly damaging Het
Neb A G 2: 52,244,069 S3301P probably damaging Het
Neurod1 T G 2: 79,454,182 K286Q probably damaging Het
Noc3l T C 19: 38,789,651 Q773R probably benign Het
Nup205 T A 6: 35,194,463 N420K probably benign Het
Olfml3 A T 3: 103,737,014 V113E probably benign Het
Olfr108 T A 17: 37,445,702 D60E probably damaging Het
Olfr128 A T 17: 37,923,629 H21L probably benign Het
Olfr155 A G 4: 43,854,417 Y36C probably damaging Het
Olfr342 C T 2: 36,527,982 S190L probably damaging Het
Opa1 T C 16: 29,611,461 V439A probably damaging Het
Pcdhb11 T C 18: 37,422,765 S383P probably damaging Het
Pkd1 T C 17: 24,593,502 V3803A probably damaging Het
Plekhg1 A G 10: 3,964,235 D1319G probably benign Het
Polq T A 16: 37,061,993 C1227* probably null Het
Psmc1 T C 12: 100,119,228 F283L probably damaging Het
Psmd8 T C 7: 29,176,127 N189S probably damaging Het
Ptger4 G A 15: 5,242,901 T104I probably benign Het
Ptpro T G 6: 137,368,296 V100G possibly damaging Het
Rab11fip1 T A 8: 27,154,492 T422S probably damaging Het
Rad54l2 A G 9: 106,693,692 L1143P possibly damaging Het
Rnf148 A G 6: 23,654,073 M308T probably damaging Het
Sbsn T A 7: 30,752,098 probably benign Het
Scube2 T A 7: 109,824,837 T487S probably benign Het
Sema4c C A 1: 36,553,811 E109* probably null Het
Sipa1l2 A T 8: 125,480,332 L544Q probably damaging Het
Slc28a2 A G 2: 122,458,221 T603A probably benign Het
Tbc1d7 T A 13: 43,153,087 T138S probably benign Het
Timd4 A T 11: 46,819,257 T239S probably benign Het
Trp53bp1 A G 2: 121,236,017 S743P probably damaging Het
Tspan10 T A 11: 120,444,294 Y77N probably damaging Het
Ttc14 T C 3: 33,803,484 S245P probably damaging Het
Ttf1 T A 2: 29,065,042 S139R probably benign Het
Tubd1 C A 11: 86,557,790 Q279K possibly damaging Het
Twnk A G 19: 45,007,587 E153G probably benign Het
Ush2a A G 1: 188,400,281 D900G probably damaging Het
Usp54 A G 14: 20,570,364 V691A probably benign Het
Usp8 T C 2: 126,718,032 probably benign Het
Vmn1r231 C T 17: 20,890,228 V142I probably benign Het
Vmn2r15 C T 5: 109,287,087 A584T probably damaging Het
Vmn2r6 A G 3: 64,559,587 S164P probably damaging Het
Vps16 A G 2: 130,438,850 Y233C probably benign Het
Vwf C G 6: 125,673,939 H2511D probably benign Het
Wipf3 T G 6: 54,483,897 L110R possibly damaging Het
Zfp945 T A 17: 22,865,252 N11I probably benign Het
Other mutations in Cd300lg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Cd300lg APN 11 102054221 unclassified probably benign
IGL01655:Cd300lg APN 11 102047075 missense probably benign 0.41
R0129:Cd300lg UTSW 11 102054092 critical splice acceptor site probably null
R1401:Cd300lg UTSW 11 102054155 missense possibly damaging 0.88
R1533:Cd300lg UTSW 11 102043221 missense probably damaging 0.98
R1809:Cd300lg UTSW 11 102043112 missense probably benign 0.00
R1848:Cd300lg UTSW 11 102046206 splice site probably benign
R1863:Cd300lg UTSW 11 102041604 missense probably damaging 0.99
R1918:Cd300lg UTSW 11 102054110 missense probably damaging 1.00
R4018:Cd300lg UTSW 11 102041594 missense probably damaging 0.98
R4591:Cd300lg UTSW 11 102046180 missense probably benign 0.01
R4758:Cd300lg UTSW 11 102053591 critical splice donor site probably null
R6211:Cd300lg UTSW 11 102054169 missense possibly damaging 0.50
R6425:Cd300lg UTSW 11 102046923 missense probably benign 0.15
R6470:Cd300lg UTSW 11 102050505 missense possibly damaging 0.61
R7025:Cd300lg UTSW 11 102043074 missense probably damaging 1.00
R7312:Cd300lg UTSW 11 102046941 missense probably benign 0.37
R7522:Cd300lg UTSW 11 102054202 missense probably benign 0.25
R8074:Cd300lg UTSW 11 102041601 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCTAACAAGAACGCCTCCCTTC -3'
(R):5'- TCTCTAAGTTGTCCCCAGTGCTCAG -3'

Sequencing Primer
(F):5'- TCATCCCCATGAAATGGGAACTTC -3'
(R):5'- CTACATccccccccccc -3'
Posted On2013-05-23