Incidental Mutation 'R6173:Rc3h2'
ID 489117
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 044316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6173 (G1)
Quality Score 217.468
Status Validated
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCC to GCCC at 37304745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect probably null
Transcript: ENSMUST00000100143
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376

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 null
Transcript: ENSMUST00000112934
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376

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 null
Transcript: ENSMUST00000112936
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376

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 noncoding transcript
Transcript: ENSMUST00000124218
Predicted Effect probably null
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: ENSMUST00000204690
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T C 3: 126,846,395 (GRCm39) D219G probably damaging Het
Arap2 A T 5: 62,906,965 (GRCm39) I18N probably damaging Het
Baz1b T C 5: 135,271,361 (GRCm39) S1315P probably benign Het
Bbs7 A T 3: 36,646,523 (GRCm39) C432* probably null Het
Bend3 A G 10: 43,385,864 (GRCm39) T86A probably benign Het
Cadm2 C T 16: 66,679,729 (GRCm39) V35I probably benign Het
Ch25h A G 19: 34,451,896 (GRCm39) S211P probably damaging Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Chia1 T C 3: 106,036,338 (GRCm39) probably null Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Dazl A T 17: 50,594,599 (GRCm39) M152K probably benign Het
Dnah17 A G 11: 117,930,772 (GRCm39) S3748P probably damaging Het
Dock2 T C 11: 34,212,388 (GRCm39) K1251R probably null Het
Esr1 T C 10: 4,696,760 (GRCm39) V203A probably damaging Het
F830045P16Rik A G 2: 129,305,588 (GRCm39) I262T probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Fshb T C 2: 106,887,638 (GRCm39) E127G possibly damaging Het
Galk2 A G 2: 125,701,137 (GRCm39) probably benign Het
Gid4 A G 11: 60,323,241 (GRCm39) D111G probably damaging Het
Gm14412 G A 2: 177,006,330 (GRCm39) P522S probably damaging Het
Iqank1 A G 15: 75,917,237 (GRCm39) E290G probably damaging Het
Mfap4 A G 11: 61,376,245 (GRCm39) probably null Het
Mfsd2a A G 4: 122,845,039 (GRCm39) V224A probably benign Het
Mocos A T 18: 24,809,639 (GRCm39) Y414F probably benign Het
Mrto4 T C 4: 139,077,755 (GRCm39) I27V probably benign Het
Muc4 A G 16: 32,554,958 (GRCm39) probably benign Het
Mug1 T A 6: 121,840,752 (GRCm39) I534N probably damaging Het
Mup20 A T 4: 61,972,267 (GRCm39) L7Q unknown Het
Nlrp2 T C 7: 5,340,808 (GRCm39) E2G probably damaging Het
Or11g1 A G 14: 50,651,654 (GRCm39) I218V possibly damaging Het
Or12k7 A G 2: 36,959,091 (GRCm39) Y258C possibly damaging Het
Or2y16 T C 11: 49,335,299 (GRCm39) V207A probably benign Het
Or6z5 C T 7: 6,477,835 (GRCm39) A242V probably damaging Het
Parn T C 16: 13,469,675 (GRCm39) T209A possibly damaging Het
Psip1 T A 4: 83,391,286 (GRCm39) probably null Het
Ptprc A C 1: 137,995,628 (GRCm39) C1157G probably damaging Het
Rad17 A C 13: 100,759,389 (GRCm39) V546G probably benign Het
Safb A G 17: 56,904,798 (GRCm39) E124G probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Skint5 T C 4: 113,392,907 (GRCm39) T1242A unknown Het
Slc13a5 C T 11: 72,144,023 (GRCm39) E352K probably benign Het
Sohlh2 G T 3: 55,104,419 (GRCm39) V263F probably benign Het
Strn A G 17: 79,008,298 (GRCm39) Y107H probably damaging Het
Tbx15 G T 3: 99,161,203 (GRCm39) E3* probably null Het
Tespa1 A G 10: 130,183,172 (GRCm39) D39G probably benign Het
Trp73 A T 4: 154,188,798 (GRCm39) D54E probably damaging Het
Ttll5 A T 12: 85,980,151 (GRCm39) S912C probably damaging Het
Utp14b A T 1: 78,643,554 (GRCm39) D484V probably benign Het
Utp14b A C 1: 78,643,557 (GRCm39) N485T probably benign Het
Vmn2r29 T C 7: 7,234,369 (GRCm39) E839G probably benign Het
Vmn2r6 G C 3: 64,467,176 (GRCm39) P108A probably damaging Het
Vps8 T G 16: 21,314,682 (GRCm39) probably null Het
Zfp36l1 A T 12: 80,156,320 (GRCm39) probably null Het
Zfp998 T A 13: 66,579,608 (GRCm39) T292S probably benign Het
Zp3r A T 1: 130,519,305 (GRCm39) probably null 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
R2850:Rc3h2 UTSW 2 37,267,427 (GRCm39) missense probably benign
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
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'- CACATCAATGTCTGTGTTTATGGC -3'
(R):5'- GTCTCTGGGTAAATGTGCAAAATG -3'

Sequencing Primer
(F):5'- TTTATGGCAGTCTGGTCAAAAGGAC -3'
(R):5'- CTGGGTAAATGTGCAAAATGTAATTC -3'
Posted On 2017-10-10