Incidental Mutation 'R7220:Clec18a'
ID 561738
Institutional Source Beutler Lab
Gene Symbol Clec18a
Ensembl Gene ENSMUSG00000033633
Gene Name C-type lectin domain family 18, member A
Synonyms Mrcl
MMRRC Submission 045292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R7220 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111796128-111819056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111808204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 66 (P66H)
Ref Sequence ENSEMBL: ENSMUSP00000046546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039597] [ENSMUST00000186384] [ENSMUST00000188466] [ENSMUST00000190222] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469]
AlphaFold Q7TSQ1
Predicted Effect probably benign
Transcript: ENSMUST00000039597
AA Change: P66H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: P66H

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186384
AA Change: P66H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000188466
AA Change: L45M

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: L45M

DomainStartEndE-ValueType
signal peptide 1 53 N/A INTRINSIC
SCP 69 217 2.8e-21 SMART
EGF 251 288 2.6e-3 SMART
EGF_like 290 319 2.4e-1 SMART
CLECT 324 460 2.3e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190222
AA Change: L45M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: L45M

DomainStartEndE-ValueType
signal peptide 1 53 N/A INTRINSIC
SCP 69 217 2.8e-21 SMART
EGF 251 288 2.6e-3 SMART
EGF_like 290 319 2.4e-1 SMART
Pfam:Lectin_C 343 418 1.7e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190778
AA Change: L76M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633
AA Change: L76M

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191030
AA Change: L76M

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: L76M

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
SCP 100 248 5.76e-19 SMART
EGF 282 319 5.32e-1 SMART
EGF_like 321 350 4.83e1 SMART
CLECT 355 491 4.65e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191469
AA Change: P66H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: P66H

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,837,337 (GRCm39) H325Q probably damaging Het
Aasdh T C 5: 77,049,772 (GRCm39) I75V probably benign Het
Abca14 G A 7: 119,826,667 (GRCm39) D438N possibly damaging Het
Abca8a T A 11: 109,980,793 (GRCm39) I82F probably benign Het
Abca8b G T 11: 109,872,543 (GRCm39) N19K probably damaging Het
Acan A G 7: 78,757,896 (GRCm39) N506S Het
Alox12e C A 11: 70,206,731 (GRCm39) R652L probably benign Het
Atad3a A G 4: 155,838,498 (GRCm39) V173A probably benign Het
Atl3 A G 19: 7,506,433 (GRCm39) K326R probably null Het
Atm G T 9: 53,423,217 (GRCm39) C636* probably null Het
Atp2c2 G A 8: 120,472,300 (GRCm39) M451I probably benign Het
Best1 A T 19: 9,969,479 (GRCm39) M193K probably benign Het
Bmper G T 9: 23,310,651 (GRCm39) G362C probably damaging Het
Brd4 T A 17: 32,444,557 (GRCm39) Y139F unknown Het
Bzw2 A T 12: 36,173,950 (GRCm39) I108N possibly damaging Het
Cbs C A 17: 31,838,191 (GRCm39) V353L probably benign Het
Ceacam20 A G 7: 19,701,678 (GRCm39) T22A probably damaging Het
Ckap2l C T 2: 129,117,436 (GRCm39) E580K probably damaging Het
Ckmt1 T C 2: 121,189,374 (GRCm39) L15P possibly damaging Het
Cma1 G T 14: 56,180,120 (GRCm39) T95K probably benign Het
Csmd3 A G 15: 48,320,994 (GRCm39) V272A probably damaging Het
Ctnna3 A T 10: 64,670,368 (GRCm39) E632D probably benign Het
Ctsc T C 7: 87,946,361 (GRCm39) L130P probably damaging Het
Frmpd2 A T 14: 33,229,432 (GRCm39) R339S probably damaging Het
Frrs1 C A 3: 116,674,425 (GRCm39) S69* probably null Het
Gcc2 A T 10: 58,116,416 (GRCm39) E1108D probably benign Het
Gkn1 A T 6: 87,326,135 (GRCm39) probably null Het
Gtf2a1 A T 12: 91,534,498 (GRCm39) M252K probably benign Het
H2-Ob T C 17: 34,460,234 (GRCm39) F115S probably damaging Het
Ighv1-53 T C 12: 115,122,135 (GRCm39) N80S probably benign Het
Ighv1-67 T C 12: 115,567,666 (GRCm39) K82R probably benign Het
Ints1 A T 5: 139,747,828 (GRCm39) I1193N possibly damaging Het
Kmt2c A G 5: 25,549,923 (GRCm39) F1353L probably damaging Het
Luc7l C T 17: 26,472,219 (GRCm39) probably benign Het
Man1a A C 10: 53,796,331 (GRCm39) S454A possibly damaging Het
Mars2 C A 1: 55,277,222 (GRCm39) A275D probably damaging Het
Nrde2 A G 12: 100,097,178 (GRCm39) V874A probably benign Het
Ociad1 A G 5: 73,470,809 (GRCm39) T244A probably benign Het
Or10j2 A G 1: 173,097,811 (GRCm39) Y23C possibly damaging Het
Or3a10 A T 11: 73,935,589 (GRCm39) D170E possibly damaging Het
Or8c9 A T 9: 38,241,046 (GRCm39) L51F probably damaging Het
Ovca2 A G 11: 75,069,501 (GRCm39) C41R possibly damaging Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdh15 G A 10: 74,178,441 (GRCm39) S566N possibly damaging Het
Pde3b A G 7: 114,135,297 (GRCm39) I1038M probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Pkhd1 T A 1: 20,593,350 (GRCm39) T1588S possibly damaging Het
Ppig A G 2: 69,580,320 (GRCm39) D618G unknown Het
Pramel17 A G 4: 101,694,565 (GRCm39) F106S probably benign Het
Prorp G A 12: 55,351,200 (GRCm39) V170M possibly damaging Het
Prss51 A T 14: 64,333,444 (GRCm39) K18* probably null Het
Ptpra T A 2: 130,386,417 (GRCm39) D622E probably damaging Het
Ptprs A T 17: 56,725,988 (GRCm39) F1431L probably benign Het
Pxdn A G 12: 30,044,479 (GRCm39) I486V probably benign Het
Rnpc3 G A 3: 113,422,004 (GRCm39) A77V probably benign Het
Rtl10 T A 16: 18,320,026 (GRCm39) C85* probably null Het
Skint10 A G 4: 112,586,170 (GRCm39) S149P probably benign Het
Slc17a8 A C 10: 89,412,275 (GRCm39) V570G probably benign Het
Slc25a42 A T 8: 70,642,148 (GRCm39) V98E probably damaging Het
Smco2 A G 6: 146,760,363 (GRCm39) E73G probably benign Het
Ss18 T C 18: 14,812,477 (GRCm39) Y38C probably damaging Het
Sspo T A 6: 48,453,540 (GRCm39) C2909* probably null Het
Tbccd1 A G 16: 22,652,747 (GRCm39) Y125H probably benign Het
Tdrd9 A G 12: 111,980,888 (GRCm39) T446A probably damaging Het
Tecta G T 9: 42,255,183 (GRCm39) Q1672K probably benign Het
Tek G C 4: 94,692,541 (GRCm39) W216C probably damaging Het
Timm17a C T 1: 135,241,313 (GRCm39) probably null Het
Tlr4 A T 4: 66,758,188 (GRCm39) H327L probably benign Het
Trim33 T C 3: 103,234,109 (GRCm39) I449T possibly damaging Het
Vmn1r57 A G 7: 5,223,559 (GRCm39) N28S probably null Het
Vmn2r117 T A 17: 23,696,177 (GRCm39) H410L probably damaging Het
Vmn2r16 A G 5: 109,508,772 (GRCm39) E500G probably damaging Het
Wif1 A G 10: 120,926,019 (GRCm39) N245S possibly damaging Het
Other mutations in Clec18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Clec18a APN 8 111,798,245 (GRCm39) missense probably damaging 1.00
LCD18:Clec18a UTSW 8 111,802,768 (GRCm39) splice site probably benign
R1251:Clec18a UTSW 8 111,808,270 (GRCm39) missense possibly damaging 0.46
R1528:Clec18a UTSW 8 111,805,498 (GRCm39) missense probably benign 0.00
R1994:Clec18a UTSW 8 111,808,234 (GRCm39) missense possibly damaging 0.90
R2283:Clec18a UTSW 8 111,802,140 (GRCm39) missense probably benign 0.33
R4458:Clec18a UTSW 8 111,802,102 (GRCm39) missense probably damaging 1.00
R4790:Clec18a UTSW 8 111,798,717 (GRCm39) missense probably damaging 1.00
R5249:Clec18a UTSW 8 111,800,368 (GRCm39) missense probably damaging 1.00
R5848:Clec18a UTSW 8 111,802,093 (GRCm39) missense probably benign 0.24
R5862:Clec18a UTSW 8 111,808,190 (GRCm39) missense possibly damaging 0.46
R6052:Clec18a UTSW 8 111,805,448 (GRCm39) nonsense probably null
R6361:Clec18a UTSW 8 111,807,661 (GRCm39) intron probably benign
R6786:Clec18a UTSW 8 111,807,572 (GRCm39) missense probably benign 0.00
R8074:Clec18a UTSW 8 111,798,230 (GRCm39) missense probably damaging 0.99
R8157:Clec18a UTSW 8 111,798,683 (GRCm39) missense probably damaging 1.00
R8170:Clec18a UTSW 8 111,807,551 (GRCm39) missense probably damaging 0.98
R8309:Clec18a UTSW 8 111,808,689 (GRCm39) missense probably benign 0.08
R8945:Clec18a UTSW 8 111,808,201 (GRCm39) missense possibly damaging 0.55
R9433:Clec18a UTSW 8 111,808,322 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CATAACACAGGGCTCAGTCC -3'
(R):5'- TTGAAGTCAGTGCACCAAGGAG -3'

Sequencing Primer
(F):5'- AGGGCTCAGTCCTGGGTAC -3'
(R):5'- TCCTTTTGACTGGCAGCTTAG -3'
Posted On 2019-06-26