Incidental Mutation 'R2850:Rc3h2'
ID 252043
Institutional Source Beutler Lab
Gene Symbol Rc3h2
Ensembl Gene ENSMUSG00000075376
Gene Name ring finger and CCCH-type zinc finger domains 2
Synonyms D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik
MMRRC Submission 040443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37267427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 972 (D972E)
Ref Sequence ENSEMBL: ENSMUSP00000108558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect probably benign
Transcript: ENSMUST00000100143
AA Change: D972E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: D972E

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112934
AA Change: D972E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: D972E

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112936
AA Change: D972E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: D972E

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125619
SMART Domains Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376

DomainStartEndE-ValueType
RING 14 53 1.4e-7 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 6.9e-6 SMART
low complexity region 455 466 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204959
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Homozygotes for a knock-out allele are viable and healthy but show increased TNF production by macrophages in response to LPS. Homozygotes for a different knock-out allele show postnatal lethality, decreased body size and weight, and an immature lung phenotype with decreased alveolar expansion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prkd3 A G 17: 79,262,025 (GRCm39) V763A possibly damaging Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rrbp1 C T 2: 143,791,269 (GRCm39) R1378Q probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Stard6 T A 18: 70,616,522 (GRCm39) H60Q probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Rc3h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Rc3h2 APN 2 37,279,759 (GRCm39) missense possibly damaging 0.59
IGL00944:Rc3h2 APN 2 37,288,250 (GRCm39) splice site probably benign
IGL01065:Rc3h2 APN 2 37,267,856 (GRCm39) splice site probably benign
IGL01966:Rc3h2 APN 2 37,272,789 (GRCm39) splice site probably benign
IGL02123:Rc3h2 APN 2 37,288,265 (GRCm39) missense probably damaging 1.00
IGL02174:Rc3h2 APN 2 37,301,237 (GRCm39) missense probably benign 0.11
IGL02448:Rc3h2 APN 2 37,279,817 (GRCm39) missense probably benign 0.08
IGL02539:Rc3h2 APN 2 37,279,727 (GRCm39) missense probably benign 0.09
IGL02698:Rc3h2 APN 2 37,295,312 (GRCm39) missense probably damaging 0.99
IGL02731:Rc3h2 APN 2 37,272,823 (GRCm39) missense probably benign 0.00
IGL02958:Rc3h2 APN 2 37,304,712 (GRCm39) missense probably damaging 1.00
IGL02959:Rc3h2 APN 2 37,295,366 (GRCm39) missense probably damaging 1.00
PIT4468001:Rc3h2 UTSW 2 37,289,651 (GRCm39) missense probably damaging 1.00
R0309:Rc3h2 UTSW 2 37,269,020 (GRCm39) splice site probably benign
R0488:Rc3h2 UTSW 2 37,279,600 (GRCm39) missense probably damaging 0.99
R0506:Rc3h2 UTSW 2 37,266,671 (GRCm39) critical splice donor site probably null
R0612:Rc3h2 UTSW 2 37,301,227 (GRCm39) missense possibly damaging 0.77
R0628:Rc3h2 UTSW 2 37,272,064 (GRCm39) splice site probably benign
R0647:Rc3h2 UTSW 2 37,299,542 (GRCm39) missense probably damaging 1.00
R0680:Rc3h2 UTSW 2 37,289,847 (GRCm39) missense probably damaging 0.97
R0738:Rc3h2 UTSW 2 37,295,386 (GRCm39) missense probably damaging 1.00
R2005:Rc3h2 UTSW 2 37,279,765 (GRCm39) nonsense probably null
R2105:Rc3h2 UTSW 2 37,289,636 (GRCm39) missense possibly damaging 0.89
R2133:Rc3h2 UTSW 2 37,268,928 (GRCm39) missense probably benign 0.12
R2373:Rc3h2 UTSW 2 37,269,013 (GRCm39) missense possibly damaging 0.94
R2414:Rc3h2 UTSW 2 37,289,831 (GRCm39) critical splice donor site probably null
R2913:Rc3h2 UTSW 2 37,268,971 (GRCm39) missense possibly damaging 0.89
R2932:Rc3h2 UTSW 2 37,268,371 (GRCm39) missense probably benign 0.10
R4441:Rc3h2 UTSW 2 37,304,526 (GRCm39) critical splice donor site probably null
R4932:Rc3h2 UTSW 2 37,279,844 (GRCm39) missense possibly damaging 0.77
R5114:Rc3h2 UTSW 2 37,288,373 (GRCm39) splice site probably null
R5169:Rc3h2 UTSW 2 37,295,324 (GRCm39) missense probably damaging 1.00
R5360:Rc3h2 UTSW 2 37,279,867 (GRCm39) missense possibly damaging 0.59
R5477:Rc3h2 UTSW 2 37,289,642 (GRCm39) missense possibly damaging 0.94
R5553:Rc3h2 UTSW 2 37,288,323 (GRCm39) nonsense probably null
R5776:Rc3h2 UTSW 2 37,268,325 (GRCm39) missense possibly damaging 0.59
R5842:Rc3h2 UTSW 2 37,268,383 (GRCm39) missense possibly damaging 0.77
R5935:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6060:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
R6112:Rc3h2 UTSW 2 37,268,899 (GRCm39) missense possibly damaging 0.59
R6172:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6173:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6177:Rc3h2 UTSW 2 37,279,658 (GRCm39) missense probably benign 0.02
R6455:Rc3h2 UTSW 2 37,299,482 (GRCm39) missense probably damaging 1.00
R6457:Rc3h2 UTSW 2 37,301,151 (GRCm39) critical splice donor site probably null
R6467:Rc3h2 UTSW 2 37,272,028 (GRCm39) missense probably damaging 0.97
R6647:Rc3h2 UTSW 2 37,272,956 (GRCm39) nonsense probably null
R6694:Rc3h2 UTSW 2 37,290,555 (GRCm39) missense probably damaging 1.00
R6695:Rc3h2 UTSW 2 37,304,673 (GRCm39) missense possibly damaging 0.88
R7054:Rc3h2 UTSW 2 37,265,258 (GRCm39) missense probably benign 0.07
R7159:Rc3h2 UTSW 2 37,299,659 (GRCm39) missense probably benign 0.39
R7162:Rc3h2 UTSW 2 37,299,617 (GRCm39) missense possibly damaging 0.59
R7640:Rc3h2 UTSW 2 37,267,861 (GRCm39) critical splice donor site probably null
R7676:Rc3h2 UTSW 2 37,295,344 (GRCm39) missense possibly damaging 0.95
R8209:Rc3h2 UTSW 2 37,267,001 (GRCm39) missense possibly damaging 0.77
R8226:Rc3h2 UTSW 2 37,267,001 (GRCm39) missense possibly damaging 0.77
R8324:Rc3h2 UTSW 2 37,290,738 (GRCm39) missense possibly damaging 0.77
R8528:Rc3h2 UTSW 2 37,272,811 (GRCm39) missense probably benign 0.05
R8836:Rc3h2 UTSW 2 37,267,941 (GRCm39) missense possibly damaging 0.59
R8957:Rc3h2 UTSW 2 37,289,660 (GRCm39) missense possibly damaging 0.59
R9053:Rc3h2 UTSW 2 37,289,628 (GRCm39) missense possibly damaging 0.95
R9131:Rc3h2 UTSW 2 37,304,702 (GRCm39) missense possibly damaging 0.94
R9178:Rc3h2 UTSW 2 37,295,264 (GRCm39) missense possibly damaging 0.77
R9437:Rc3h2 UTSW 2 37,272,841 (GRCm39) missense possibly damaging 0.94
X0013:Rc3h2 UTSW 2 37,279,798 (GRCm39) missense possibly damaging 0.60
Z1187:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Z1188:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Z1189:Rc3h2 UTSW 2 37,299,568 (GRCm39) missense possibly damaging 0.94
Z1192:Rc3h2 UTSW 2 37,299,568 (GRCm39) missense possibly damaging 0.94
Z1192:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TTGCATGGCCAGAGCATTAG -3'
(R):5'- AAGCCTTGCTAATTTGAGCTGTG -3'

Sequencing Primer
(F):5'- AGTTACTCTTGGCCTCCA -3'
(R):5'- AAAACTTTCTGAATGCTGGGCG -3'
Posted On 2014-12-04