Incidental Mutation 'R6184:Clec16a'
ID 501844
Institutional Source Beutler Lab
Gene Symbol Clec16a
Ensembl Gene ENSMUSG00000068663
Gene Name C-type lectin domain family 16, member A
Synonyms curt, 4932416N17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 10363203-10562742 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 10390792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000066345] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000155633]
AlphaFold Q80U30
Predicted Effect probably benign
Transcript: ENSMUST00000038145
SMART Domains Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 9.2e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
low complexity region 897 912 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000066345
SMART Domains Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115824
SMART Domains Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 198 5.9e-66 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115827
SMART Domains Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 8.7e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115828
SMART Domains Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 2.1e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155633
SMART Domains Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 396 417 N/A INTRINSIC
low complexity region 875 922 N/A INTRINSIC
low complexity region 941 953 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation have a curved tail, small body size, squinting eyes, crooked digits that curve outward, and premature death. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,057,179 (GRCm39) F106S probably benign Het
Adgrv1 A T 13: 81,581,957 (GRCm39) F4696I probably benign Het
Ank2 T C 3: 126,756,047 (GRCm39) I1073V probably damaging Het
Card11 A T 5: 140,884,033 (GRCm39) D415E probably damaging Het
Coro2a T C 4: 46,540,504 (GRCm39) T472A probably benign Het
D130043K22Rik T A 13: 25,069,574 (GRCm39) F878I probably damaging Het
D5Ertd579e G T 5: 36,787,127 (GRCm39) D80E probably damaging Het
Ddrgk1 A T 2: 130,506,481 (GRCm39) V2E possibly damaging Het
Disp1 T C 1: 182,867,896 (GRCm39) H1508R probably benign Het
Dmtf1 T C 5: 9,176,656 (GRCm39) N344S probably benign Het
Eml5 A G 12: 98,829,388 (GRCm39) V503A possibly damaging Het
Fat1 A G 8: 45,406,429 (GRCm39) H1060R probably benign Het
Fbxw8 C T 5: 118,251,814 (GRCm39) R233Q probably damaging Het
Fer1l4 T C 2: 155,890,211 (GRCm39) K238R probably damaging Het
Flg T A 3: 93,187,357 (GRCm39) S270T probably benign Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Gm3604 A T 13: 62,519,659 (GRCm39) V32D probably damaging Het
Gnl2 T G 4: 124,948,022 (GRCm39) probably null Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Il2ra T A 2: 11,652,790 (GRCm39) probably benign Het
Kics2 T C 10: 121,586,810 (GRCm39) L375P probably damaging Het
Kmt5b T A 19: 3,854,499 (GRCm39) M254K probably damaging Het
Lrriq3 T C 3: 154,835,039 (GRCm39) I258T probably benign Het
Mbnl1 T C 3: 60,523,165 (GRCm39) L328S probably damaging Het
Mboat2 A G 12: 25,001,430 (GRCm39) D277G possibly damaging Het
Mug2 A G 6: 122,014,005 (GRCm39) I364V probably benign Het
Myh7 G A 14: 55,226,315 (GRCm39) R442C probably damaging Het
Nin A G 12: 70,090,511 (GRCm39) L968P probably damaging Het
Or1l8 T C 2: 36,817,404 (GRCm39) T241A probably damaging Het
Or5w14 A T 2: 87,542,188 (GRCm39) Y21N probably benign Het
Or8g53 T G 9: 39,683,916 (GRCm39) Y60S probably damaging Het
Per1 C T 11: 68,993,730 (GRCm39) P403S probably damaging Het
Ppip5k2 T C 1: 97,661,730 (GRCm39) I723V possibly damaging Het
Ptprg A G 14: 12,153,943 (GRCm38) T555A probably benign Het
Rgsl1 C T 1: 153,703,194 (GRCm39) M187I probably benign Het
Sec31a A G 5: 100,517,453 (GRCm39) probably null Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Stx1b G A 7: 127,407,077 (GRCm39) T206I possibly damaging Het
Tsc22d4 T A 5: 137,757,351 (GRCm39) M35K probably damaging Het
Zc2hc1c A G 12: 85,343,218 (GRCm39) K452E probably damaging Het
Zfp386 A G 12: 116,024,133 (GRCm39) N582S possibly damaging Het
Zfp457 A G 13: 67,440,976 (GRCm39) V437A possibly damaging Het
Zfp599 T C 9: 22,160,947 (GRCm39) Y406C probably benign Het
Zfyve26 G A 12: 79,315,501 (GRCm39) S1325F probably damaging Het
Other mutations in Clec16a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Clec16a APN 16 10,413,760 (GRCm39) missense probably damaging 1.00
IGL00503:Clec16a APN 16 10,512,513 (GRCm39) missense possibly damaging 0.53
IGL01622:Clec16a APN 16 10,395,774 (GRCm39) missense possibly damaging 0.47
IGL01623:Clec16a APN 16 10,395,774 (GRCm39) missense possibly damaging 0.47
IGL02008:Clec16a APN 16 10,398,824 (GRCm39) missense probably damaging 1.00
IGL02082:Clec16a APN 16 10,432,432 (GRCm39) missense probably damaging 1.00
IGL02468:Clec16a APN 16 10,559,742 (GRCm39) missense probably benign 0.13
IGL02499:Clec16a APN 16 10,512,540 (GRCm39) missense probably benign 0.25
IGL02671:Clec16a APN 16 10,445,245 (GRCm39) missense probably benign 0.19
G5030:Clec16a UTSW 16 10,389,425 (GRCm39) missense probably damaging 1.00
IGL03055:Clec16a UTSW 16 10,559,645 (GRCm39) missense probably damaging 0.99
P0014:Clec16a UTSW 16 10,378,020 (GRCm39) splice site probably benign
R0183:Clec16a UTSW 16 10,377,886 (GRCm39) missense probably damaging 1.00
R0268:Clec16a UTSW 16 10,462,692 (GRCm39) nonsense probably null
R0512:Clec16a UTSW 16 10,432,444 (GRCm39) missense probably damaging 1.00
R0556:Clec16a UTSW 16 10,456,649 (GRCm39) critical splice acceptor site probably null
R0944:Clec16a UTSW 16 10,506,510 (GRCm39) splice site probably benign
R1456:Clec16a UTSW 16 10,509,419 (GRCm39) missense probably damaging 1.00
R1497:Clec16a UTSW 16 10,453,123 (GRCm39) missense probably damaging 1.00
R1580:Clec16a UTSW 16 10,413,762 (GRCm39) missense probably damaging 1.00
R1933:Clec16a UTSW 16 10,506,403 (GRCm39) missense probably damaging 0.99
R2075:Clec16a UTSW 16 10,559,480 (GRCm39) missense probably benign 0.09
R2269:Clec16a UTSW 16 10,462,650 (GRCm39) missense probably damaging 1.00
R2504:Clec16a UTSW 16 10,377,551 (GRCm39) intron probably benign
R3011:Clec16a UTSW 16 10,428,975 (GRCm39) missense probably benign 0.01
R4331:Clec16a UTSW 16 10,389,533 (GRCm39) missense probably benign
R4616:Clec16a UTSW 16 10,462,747 (GRCm39) critical splice donor site probably null
R4775:Clec16a UTSW 16 10,456,778 (GRCm39) missense probably damaging 1.00
R4969:Clec16a UTSW 16 10,386,375 (GRCm39) missense probably damaging 1.00
R5053:Clec16a UTSW 16 10,394,461 (GRCm39) missense probably damaging 1.00
R5170:Clec16a UTSW 16 10,559,655 (GRCm39) missense probably benign
R5329:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5331:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5332:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5417:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5419:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5420:Clec16a UTSW 16 10,549,543 (GRCm39) missense probably damaging 0.99
R5457:Clec16a UTSW 16 10,363,396 (GRCm39) splice site probably null
R5623:Clec16a UTSW 16 10,428,985 (GRCm39) missense probably benign 0.07
R6057:Clec16a UTSW 16 10,447,951 (GRCm39) missense probably damaging 1.00
R6235:Clec16a UTSW 16 10,512,499 (GRCm39) missense probably damaging 1.00
R6260:Clec16a UTSW 16 10,512,712 (GRCm39) intron probably benign
R6292:Clec16a UTSW 16 10,378,015 (GRCm39) critical splice donor site probably null
R6318:Clec16a UTSW 16 10,448,652 (GRCm39) missense probably damaging 1.00
R6894:Clec16a UTSW 16 10,462,718 (GRCm39) missense probably damaging 1.00
R7340:Clec16a UTSW 16 10,398,827 (GRCm39) missense probably null 0.21
R7432:Clec16a UTSW 16 10,506,419 (GRCm39) missense possibly damaging 0.62
R7453:Clec16a UTSW 16 10,462,686 (GRCm39) missense probably damaging 1.00
R7536:Clec16a UTSW 16 10,456,708 (GRCm39) missense possibly damaging 0.90
R8207:Clec16a UTSW 16 10,512,574 (GRCm39) missense probably damaging 1.00
R8207:Clec16a UTSW 16 10,445,312 (GRCm39) missense probably benign 0.00
R8423:Clec16a UTSW 16 10,394,527 (GRCm39) missense probably benign 0.04
R8447:Clec16a UTSW 16 10,559,487 (GRCm39) missense probably benign 0.09
R8700:Clec16a UTSW 16 10,506,422 (GRCm39) missense probably damaging 1.00
R8855:Clec16a UTSW 16 10,462,731 (GRCm39) missense probably damaging 1.00
R9143:Clec16a UTSW 16 10,428,964 (GRCm39) missense probably damaging 0.96
R9676:Clec16a UTSW 16 10,559,823 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCATAGTTGGTTCCACTGTCC -3'
(R):5'- AAGCTGTGCTGGTGCTCTTC -3'

Sequencing Primer
(F):5'- ATAGTTGGTTCCACTGTCCTATGC -3'
(R):5'- GGTGCTCTTCTCTCAACTAACACAC -3'
Posted On 2017-12-04