Incidental Mutation 'R4934:Cd180'
ID 439476
Institutional Source Beutler Lab
Gene Symbol Cd180
Ensembl Gene ENSMUSG00000021624
Gene Name CD180 antigen
Synonyms Ly78, RP105
MMRRC Submission 042534-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4934 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 102830055-102843139 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 102875672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099202] [ENSMUST00000166726] [ENSMUST00000167058] [ENSMUST00000167462] [ENSMUST00000170878] [ENSMUST00000170878] [ENSMUST00000171791] [ENSMUST00000172138] [ENSMUST00000172138]
AlphaFold Q62192
Predicted Effect probably benign
Transcript: ENSMUST00000099202
SMART Domains Protein: ENSMUSP00000096808
Gene: ENSMUSG00000034751

DomainStartEndE-ValueType
low complexity region 13 38 N/A INTRINSIC
Pfam:DUF1908 76 353 2.2e-146 PFAM
S_TKc 391 664 4.13e-98 SMART
S_TK_X 665 729 3.79e-2 SMART
low complexity region 745 758 N/A INTRINSIC
low complexity region 818 831 N/A INTRINSIC
low complexity region 840 857 N/A INTRINSIC
low complexity region 925 960 N/A INTRINSIC
PDZ 970 1050 2.34e-15 SMART
low complexity region 1070 1087 N/A INTRINSIC
low complexity region 1111 1122 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1142 1164 N/A INTRINSIC
low complexity region 1202 1219 N/A INTRINSIC
low complexity region 1290 1306 N/A INTRINSIC
low complexity region 1345 1361 N/A INTRINSIC
low complexity region 1937 1953 N/A INTRINSIC
low complexity region 1996 2010 N/A INTRINSIC
low complexity region 2150 2161 N/A INTRINSIC
low complexity region 2296 2307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166726
SMART Domains Protein: ENSMUSP00000132263
Gene: ENSMUSG00000034751

DomainStartEndE-ValueType
low complexity region 23 51 N/A INTRINSIC
Pfam:DUF1908 256 530 4.2e-145 PFAM
S_TKc 568 841 4.13e-98 SMART
S_TK_X 842 906 3.79e-2 SMART
low complexity region 922 935 N/A INTRINSIC
low complexity region 995 1008 N/A INTRINSIC
low complexity region 1035 1070 N/A INTRINSIC
PDZ 1080 1160 2.34e-15 SMART
low complexity region 1180 1201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167058
SMART Domains Protein: ENSMUSP00000128464
Gene: ENSMUSG00000034751

DomainStartEndE-ValueType
low complexity region 23 51 N/A INTRINSIC
Pfam:DUF1908 256 529 5.1e-134 PFAM
S_TKc 568 841 4.13e-98 SMART
S_TK_X 842 906 3.79e-2 SMART
low complexity region 922 935 N/A INTRINSIC
low complexity region 995 1008 N/A INTRINSIC
low complexity region 1017 1034 N/A INTRINSIC
low complexity region 1102 1137 N/A INTRINSIC
PDZ 1147 1227 2.34e-15 SMART
low complexity region 1247 1264 N/A INTRINSIC
low complexity region 1288 1299 N/A INTRINSIC
low complexity region 1304 1316 N/A INTRINSIC
low complexity region 1319 1341 N/A INTRINSIC
low complexity region 1379 1396 N/A INTRINSIC
low complexity region 1467 1483 N/A INTRINSIC
low complexity region 1522 1538 N/A INTRINSIC
low complexity region 2114 2130 N/A INTRINSIC
low complexity region 2173 2187 N/A INTRINSIC
low complexity region 2327 2338 N/A INTRINSIC
low complexity region 2473 2484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167462
SMART Domains Protein: ENSMUSP00000131910
Gene: ENSMUSG00000034751

DomainStartEndE-ValueType
Pfam:DUF1908 64 338 3e-145 PFAM
S_TKc 376 649 4.13e-98 SMART
S_TK_X 650 714 3.79e-2 SMART
low complexity region 730 743 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 843 878 N/A INTRINSIC
PDZ 888 968 2.34e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170878
SMART Domains Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:3T6Q|B 21 86 3e-38 PDB
SCOP:d1m0za_ 35 84 4e-4 SMART
Blast:LRR 51 75 1e-5 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000170878
SMART Domains Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:3T6Q|B 21 86 3e-38 PDB
SCOP:d1m0za_ 35 84 4e-4 SMART
Blast:LRR 51 75 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171791
SMART Domains Protein: ENSMUSP00000131651
Gene: ENSMUSG00000034751

DomainStartEndE-ValueType
Pfam:DUF1908 64 338 1.2e-144 PFAM
S_TKc 376 649 4.13e-98 SMART
S_TK_X 650 714 3.79e-2 SMART
low complexity region 730 743 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 825 842 N/A INTRINSIC
low complexity region 910 945 N/A INTRINSIC
PDZ 955 1035 2.34e-15 SMART
low complexity region 1055 1072 N/A INTRINSIC
low complexity region 1096 1107 N/A INTRINSIC
low complexity region 1112 1124 N/A INTRINSIC
low complexity region 1127 1149 N/A INTRINSIC
low complexity region 1187 1204 N/A INTRINSIC
low complexity region 1275 1291 N/A INTRINSIC
low complexity region 1330 1346 N/A INTRINSIC
low complexity region 1922 1938 N/A INTRINSIC
low complexity region 1981 1995 N/A INTRINSIC
low complexity region 2135 2146 N/A INTRINSIC
low complexity region 2281 2292 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172138
Predicted Effect probably null
Transcript: ENSMUST00000172138
Predicted Effect probably benign
Transcript: ENSMUST00000194446
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 99% (134/135)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation showed impaired proliferative and humoral immune responses of B cells to lipopolysaccharides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik A T 1: 31,261,580 (GRCm39) probably benign Het
Acy1 T A 9: 106,312,321 (GRCm39) I14F probably null Het
Ago1 T C 4: 126,342,652 (GRCm39) D193G possibly damaging Het
Arhgap45 A T 10: 79,856,791 (GRCm39) H201L probably damaging Het
Armc9 G A 1: 86,140,801 (GRCm39) D63N probably damaging Het
Asb17 A T 3: 153,556,336 (GRCm39) I148F possibly damaging Het
Atf7ip2 A G 16: 10,059,447 (GRCm39) E329G possibly damaging Het
Atp2a1 T A 7: 126,052,600 (GRCm39) D373V probably benign Het
Cacna1e G T 1: 154,357,380 (GRCm39) Y603* probably null Het
Cbln4 G A 2: 171,880,901 (GRCm39) T131I probably damaging Het
Ccdc126 A G 6: 49,311,181 (GRCm39) E63G probably damaging Het
Ccl4 T A 11: 83,553,504 (GRCm39) S6T unknown Het
Ccnb1 A T 13: 100,918,209 (GRCm39) I146K possibly damaging Het
Ccr8 T A 9: 119,923,815 (GRCm39) M310K probably benign Het
Cd46 G C 1: 194,765,107 (GRCm39) probably benign Het
Cebpb A G 2: 167,531,005 (GRCm39) M22V probably benign Het
Cep152 A G 2: 125,453,016 (GRCm39) I352T possibly damaging Het
Cep295 T G 9: 15,244,456 (GRCm39) E1333D probably damaging Het
Ces4a A G 8: 105,864,613 (GRCm39) H30R probably benign Het
Chrm3 A G 13: 9,927,450 (GRCm39) Y529H probably damaging Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Clca3a2 A G 3: 144,523,692 (GRCm39) Y98H probably damaging Het
Clvs1 C T 4: 9,424,216 (GRCm39) H221Y possibly damaging Het
Col3a1 G A 1: 45,379,112 (GRCm39) probably benign Het
Cpn2 T G 16: 30,079,344 (GRCm39) N119T probably damaging Het
Cspg4b C A 13: 113,504,882 (GRCm39) Q2004K probably damaging Het
Cubn T A 2: 13,494,721 (GRCm39) Q109H probably benign Het
Cyp26b1 A G 6: 84,553,954 (GRCm39) V221A possibly damaging Het
Cyp2e1 T G 7: 140,350,030 (GRCm39) N238K probably damaging Het
Dst C T 1: 34,247,669 (GRCm39) A1693V probably damaging Het
Dync2li1 A G 17: 84,956,683 (GRCm39) Q281R probably benign Het
Enpp2 C T 15: 54,745,543 (GRCm39) G318S probably damaging Het
Entrep1 T C 19: 23,950,789 (GRCm39) *597W probably null Het
F13a1 G T 13: 37,061,736 (GRCm39) P676T probably benign Het
Fam227a T C 15: 79,521,262 (GRCm39) H267R possibly damaging Het
Fam78a G A 2: 31,959,427 (GRCm39) R228C probably damaging Het
Fbxw25 T C 9: 109,480,705 (GRCm39) N325S possibly damaging Het
Foxred1 T C 9: 35,121,210 (GRCm39) probably benign Het
Fstl5 T A 3: 76,496,272 (GRCm39) V345E probably damaging Het
Fzd8 GAAAAACTCA GA 18: 9,214,492 (GRCm39) probably null Het
Hand1 T C 11: 57,722,078 (GRCm39) R179G possibly damaging Het
Hk1 G T 10: 62,194,165 (GRCm39) probably benign Het
Hmcn1 A C 1: 150,598,286 (GRCm39) L1672R probably damaging Het
Hps5 G A 7: 46,418,775 (GRCm39) Q297* probably null Het
Iars1 T A 13: 49,871,460 (GRCm39) F699I probably benign Het
Ift140 G A 17: 25,267,462 (GRCm39) G620E probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4a T G 1: 37,426,922 (GRCm39) Y628D possibly damaging Het
Itk C T 11: 46,280,152 (GRCm39) R29H probably damaging Het
Kcnv1 A G 15: 44,972,644 (GRCm39) F413S probably damaging Het
Klhl3 A T 13: 58,250,231 (GRCm39) Y4* probably null Het
Lonrf1 C A 8: 36,701,103 (GRCm39) C369F probably damaging Het
Magohb A T 6: 131,261,558 (GRCm39) probably benign Het
Map3k4 G A 17: 12,490,787 (GRCm39) R215C probably damaging Het
Map3k8 A T 18: 4,339,548 (GRCm39) S274R possibly damaging Het
Masp1 T G 16: 23,283,826 (GRCm39) M470L probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Muc4 A T 16: 32,576,472 (GRCm39) probably benign Het
Myo1c T A 11: 75,562,676 (GRCm39) V981E probably damaging Het
Nedd9 A T 13: 41,492,411 (GRCm39) I27K probably damaging Het
Nkd2 C A 13: 73,970,841 (GRCm39) G247V probably damaging Het
Nucb2 A C 7: 116,139,199 (GRCm39) Q398P possibly damaging Het
Numa1 T A 7: 101,660,064 (GRCm39) D376E probably benign Het
Or2w1 G A 13: 21,317,241 (GRCm39) V99I probably benign Het
Or4c101 C T 2: 88,389,930 (GRCm39) T39I probably benign Het
Or4n5 T C 14: 50,133,206 (GRCm39) T18A probably benign Het
Or4p23 A T 2: 88,576,398 (GRCm39) L278* probably null Het
Or4q3 C T 14: 50,583,345 (GRCm39) V185M probably damaging Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or6c76b A T 10: 129,692,896 (GRCm39) N170Y possibly damaging Het
Or8d23 A T 9: 38,842,129 (GRCm39) I221F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcnx1 G A 12: 82,038,599 (GRCm39) V1955I possibly damaging Het
Pira13 A G 7: 3,825,676 (GRCm39) Y398H probably damaging Het
Plekha3 T A 2: 76,510,571 (GRCm39) D35E possibly damaging Het
Pnpla2 T G 7: 141,038,085 (GRCm39) N184K probably damaging Het
Polr3a C T 14: 24,502,692 (GRCm39) E1216K probably benign Het
Ppp1r21 A T 17: 88,852,803 (GRCm39) S61C probably damaging Het
Ppp1r21 G C 17: 88,852,804 (GRCm39) S61T probably damaging Het
Prdm13 G T 4: 21,678,223 (GRCm39) probably benign Het
Prss53 T C 7: 127,487,879 (GRCm39) N201S probably benign Het
Rab11fip2 A G 19: 59,924,290 (GRCm39) L338S probably damaging Het
Rad50 T C 11: 53,575,102 (GRCm39) N546S probably benign Het
Ralgapa1 T C 12: 55,809,359 (GRCm39) D472G possibly damaging Het
Rexo4 A G 2: 26,850,346 (GRCm39) I277T probably damaging Het
Rimbp2 C T 5: 128,865,579 (GRCm39) V590I probably benign Het
Ripor3 A G 2: 167,824,736 (GRCm39) V864A probably benign Het
Rnpc3 G A 3: 113,418,628 (GRCm39) H107Y possibly damaging Het
Ryr1 A T 7: 28,767,520 (GRCm39) D2927E probably damaging Het
Samd9l G A 6: 3,375,621 (GRCm39) Q547* probably null Het
Scaper T C 9: 55,716,459 (GRCm39) E724G probably damaging Het
Secisbp2l C T 2: 125,582,409 (GRCm39) V1016I probably damaging Het
Selenoo T A 15: 88,982,970 (GRCm39) M499K probably damaging Het
Sema4a T A 3: 88,345,568 (GRCm39) D505V probably damaging Het
Sema5a T C 15: 32,679,310 (GRCm39) M863T probably damaging Het
Slc24a5 T C 2: 124,929,940 (GRCm39) C414R probably damaging Het
Slc34a2 A G 5: 53,224,942 (GRCm39) D361G probably damaging Het
Slc5a1 T C 5: 33,261,858 (GRCm39) Y20H probably benign Het
Slx4ip A T 2: 136,910,267 (GRCm39) probably benign Het
Snx14 T A 9: 88,280,341 (GRCm39) E538V probably damaging Het
Sspo C A 6: 48,442,486 (GRCm39) L1994I probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stap2 A G 17: 56,304,901 (GRCm39) S294P possibly damaging Het
Stat1 C A 1: 52,193,082 (GRCm39) Y651* probably null Het
Syne2 A G 12: 75,946,046 (GRCm39) T373A probably benign Het
Tacc2 A G 7: 130,330,318 (GRCm39) S201G probably damaging Het
Tdpoz3 G A 3: 93,734,287 (GRCm39) E321K probably benign Het
Thumpd1 T C 7: 119,316,002 (GRCm39) T316A probably benign Het
Tlr3 A T 8: 45,850,072 (GRCm39) C866S probably benign Het
Tmprss11g T A 5: 86,644,401 (GRCm39) I148F probably benign Het
Topbp1 T A 9: 103,205,568 (GRCm39) probably benign Het
Tpm1 T C 9: 66,935,331 (GRCm39) probably null Het
Traf3ip2 T A 10: 39,502,096 (GRCm39) S81R probably damaging Het
Trim29 T A 9: 43,222,265 (GRCm39) N31K probably benign Het
Ubn2 C T 6: 38,467,433 (GRCm39) P563S probably benign Het
Usp24 T C 4: 106,283,743 (GRCm39) Y2418H probably benign Het
Vmn2r6 T A 3: 64,463,766 (GRCm39) D267V probably damaging Het
Wapl T A 14: 34,414,052 (GRCm39) C305S probably benign Het
Yme1l1 C A 2: 23,058,333 (GRCm39) S155* probably null Het
Ythdf3 T A 3: 16,258,220 (GRCm39) H126Q probably damaging Het
Zbtb32 A T 7: 30,290,678 (GRCm39) C206S possibly damaging Het
Zbtb47 T C 9: 121,593,045 (GRCm39) V455A probably damaging Het
Zfp518a A T 19: 40,902,707 (GRCm39) I879F probably benign Het
Zfp938 A T 10: 82,062,012 (GRCm39) Y203N possibly damaging Het
Other mutations in Cd180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Cd180 APN 13 102,841,917 (GRCm39) missense probably benign
IGL00949:Cd180 APN 13 102,830,268 (GRCm39) missense possibly damaging 0.89
IGL01864:Cd180 APN 13 102,842,541 (GRCm39) missense possibly damaging 0.93
IGL01901:Cd180 APN 13 102,842,936 (GRCm39) missense probably benign 0.04
IGL01934:Cd180 APN 13 102,839,366 (GRCm39) missense probably damaging 1.00
IGL01998:Cd180 APN 13 102,841,722 (GRCm39) missense probably damaging 0.99
IGL02336:Cd180 APN 13 102,841,821 (GRCm39) missense probably damaging 0.98
IGL03031:Cd180 APN 13 102,841,535 (GRCm39) missense probably benign 0.00
IGL03139:Cd180 APN 13 102,842,924 (GRCm39) missense probably damaging 1.00
Volte_face UTSW 13 102,841,431 (GRCm39) missense probably damaging 0.99
H8562:Cd180 UTSW 13 102,841,926 (GRCm39) missense probably benign 0.02
R0004:Cd180 UTSW 13 102,839,216 (GRCm39) missense probably benign 0.00
R0393:Cd180 UTSW 13 102,842,408 (GRCm39) missense probably damaging 0.99
R0565:Cd180 UTSW 13 102,839,382 (GRCm39) intron probably benign
R1080:Cd180 UTSW 13 102,842,728 (GRCm39) nonsense probably null
R1223:Cd180 UTSW 13 102,842,730 (GRCm39) missense possibly damaging 0.49
R1669:Cd180 UTSW 13 102,841,998 (GRCm39) missense probably damaging 1.00
R1772:Cd180 UTSW 13 102,842,750 (GRCm39) missense probably benign 0.11
R1784:Cd180 UTSW 13 102,842,367 (GRCm39) missense probably damaging 1.00
R1865:Cd180 UTSW 13 102,842,517 (GRCm39) missense probably benign
R2252:Cd180 UTSW 13 102,842,906 (GRCm39) nonsense probably null
R2385:Cd180 UTSW 13 102,841,691 (GRCm39) missense probably benign 0.00
R4653:Cd180 UTSW 13 102,841,416 (GRCm39) missense probably damaging 1.00
R4695:Cd180 UTSW 13 102,842,268 (GRCm39) missense probably benign 0.01
R4790:Cd180 UTSW 13 102,839,330 (GRCm39) missense probably damaging 0.98
R5052:Cd180 UTSW 13 102,841,403 (GRCm39) missense probably benign
R5154:Cd180 UTSW 13 102,842,282 (GRCm39) missense probably damaging 1.00
R5469:Cd180 UTSW 13 102,841,342 (GRCm39) missense probably benign 0.37
R5493:Cd180 UTSW 13 102,842,649 (GRCm39) missense probably benign 0.07
R5615:Cd180 UTSW 13 102,842,711 (GRCm39) missense probably benign 0.34
R5905:Cd180 UTSW 13 102,842,541 (GRCm39) missense possibly damaging 0.93
R6282:Cd180 UTSW 13 102,830,265 (GRCm39) missense possibly damaging 0.90
R6433:Cd180 UTSW 13 102,842,141 (GRCm39) missense probably benign 0.00
R6456:Cd180 UTSW 13 102,839,344 (GRCm39) missense probably damaging 1.00
R6784:Cd180 UTSW 13 102,839,213 (GRCm39) missense probably damaging 0.97
R6815:Cd180 UTSW 13 102,841,937 (GRCm39) missense probably damaging 1.00
R6838:Cd180 UTSW 13 102,839,239 (GRCm39) missense probably benign 0.38
R6941:Cd180 UTSW 13 102,842,699 (GRCm39) missense probably benign 0.23
R7048:Cd180 UTSW 13 102,841,431 (GRCm39) missense probably damaging 0.99
R7338:Cd180 UTSW 13 102,842,936 (GRCm39) missense probably benign 0.04
R7466:Cd180 UTSW 13 102,841,503 (GRCm39) missense probably damaging 1.00
R7647:Cd180 UTSW 13 102,842,451 (GRCm39) missense probably damaging 1.00
R8179:Cd180 UTSW 13 102,842,141 (GRCm39) missense probably benign 0.00
R8252:Cd180 UTSW 13 102,842,504 (GRCm39) missense probably benign 0.00
R8300:Cd180 UTSW 13 102,841,301 (GRCm39) missense probably benign 0.01
R8460:Cd180 UTSW 13 102,839,354 (GRCm39) missense probably damaging 1.00
R9122:Cd180 UTSW 13 102,841,517 (GRCm39) missense probably damaging 0.97
R9227:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9229:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9230:Cd180 UTSW 13 102,841,514 (GRCm39) nonsense probably null
R9399:Cd180 UTSW 13 102,842,021 (GRCm39) missense probably benign 0.00
R9569:Cd180 UTSW 13 102,842,486 (GRCm39) missense possibly damaging 0.94
Z1176:Cd180 UTSW 13 102,842,274 (GRCm39) missense probably damaging 1.00
Z1177:Cd180 UTSW 13 102,842,540 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTGGTCTGGGGAAAGTCAAC -3'
(R):5'- CTCTTCAAGAAGCTGGCCAAG -3'

Sequencing Primer
(F):5'- GTCTGGGGAAAGTCAACTCCTTATC -3'
(R):5'- GCCAAGCAGCCTTCTCC -3'
Posted On 2016-11-02