Incidental Mutation 'R6647:Rc3h2'
ID 526107
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 044768-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6647 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 37272956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 707 (R707*)
Ref Sequence ENSEMBL: ENSMUSP00000108558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect probably null
Transcript: ENSMUST00000100143
AA Change: R707*
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: R707*

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
AA Change: R707*
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: R707*

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
AA Change: R707*
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: R707*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (53/54)
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
Agl T C 3: 116,544,060 (GRCm39) T1416A probably damaging Het
Atp7b A G 8: 22,518,494 (GRCm39) S103P probably damaging Het
Ces1h A C 8: 94,078,654 (GRCm39) *563G probably null Het
Cfap157 G T 2: 32,669,086 (GRCm39) A339E probably benign Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2b13 A G 7: 25,785,324 (GRCm39) H231R possibly damaging Het
Ddx31 A T 2: 28,765,750 (GRCm39) T483S probably damaging Het
Defa25 A T 8: 21,575,201 (GRCm39) D60V possibly damaging Het
Dnah5 G A 15: 28,403,633 (GRCm39) A3453T probably benign Het
Dnah6 A T 6: 73,115,743 (GRCm39) F1500I probably damaging Het
Eprs1 C T 1: 185,146,621 (GRCm39) A1217V probably damaging Het
Ermp1 T C 19: 29,604,335 (GRCm39) Y481C probably benign Het
Fmn2 T A 1: 174,420,670 (GRCm39) N635K unknown Het
Fras1 A G 5: 96,883,061 (GRCm39) D2531G probably damaging Het
Frat1 C T 19: 41,819,264 (GRCm39) Q220* probably null Het
Gcc2 T A 10: 58,123,103 (GRCm39) probably null Het
Gm3285 T C 10: 77,698,447 (GRCm39) probably benign Het
Gm9857 T C 3: 108,847,379 (GRCm39) probably benign Het
Grin2b C A 6: 135,710,108 (GRCm39) W1146L probably damaging Het
Hells T A 19: 38,919,948 (GRCm39) L33I probably benign Het
Ift81 T A 5: 122,748,229 (GRCm39) R54* probably null Het
Ints12 G A 3: 132,802,639 (GRCm39) R41Q possibly damaging Het
Katnal2 C T 18: 77,067,733 (GRCm39) E403K probably benign Het
Kcnk1 A G 8: 126,722,199 (GRCm39) M1V probably null Het
Kdm5a A G 6: 120,389,422 (GRCm39) T950A probably benign Het
Kdr G A 5: 76,113,549 (GRCm39) A773V probably damaging Het
Lats1 G C 10: 7,573,271 (GRCm39) M118I possibly damaging Het
Mug1 A G 6: 121,817,200 (GRCm39) I90V probably benign Het
Nid2 A G 14: 19,852,484 (GRCm39) D1064G probably benign Het
Nkx2-4 A T 2: 146,926,187 (GRCm39) I225N possibly damaging Het
Nlrp4e A G 7: 23,020,740 (GRCm39) D409G probably benign Het
Ogfod2 G C 5: 124,252,866 (GRCm39) R292P possibly damaging Het
Oprk1 C T 1: 5,672,507 (GRCm39) P215S probably damaging Het
Or5d36 A T 2: 87,901,053 (GRCm39) F224L probably benign Het
Or6c35 T A 10: 129,169,033 (GRCm39) C94* probably null Het
Or7g27 T A 9: 19,249,925 (GRCm39) H56Q possibly damaging Het
Or8g21 T C 9: 38,906,210 (GRCm39) I174V possibly damaging Het
Pcdhb16 A G 18: 37,612,225 (GRCm39) K395R possibly damaging Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Pycard T C 7: 127,592,741 (GRCm39) T29A probably benign Het
Rap1gap2 G A 11: 74,298,754 (GRCm39) A452V probably benign Het
Rasgrf1 C G 9: 89,892,516 (GRCm39) T1072S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Senp7 T C 16: 55,993,618 (GRCm39) I767T probably damaging Het
Setd7 A G 3: 51,450,183 (GRCm39) V81A probably benign Het
Shisal2a A G 4: 108,225,224 (GRCm39) S113P probably benign Het
Shkbp1 A G 7: 27,041,800 (GRCm39) S685P probably benign Het
Snrnp200 A G 2: 127,068,372 (GRCm39) E904G probably damaging Het
Spata22 T A 11: 73,245,526 (GRCm39) probably null Het
Spata31e2 T A 1: 26,721,659 (GRCm39) N1174Y probably damaging Het
Tas2r138 G T 6: 40,589,733 (GRCm39) T171K possibly damaging Het
Tor1aip1 T C 1: 155,893,999 (GRCm39) D77G possibly damaging Het
Vav3 A T 3: 109,434,732 (GRCm39) H421L probably benign Het
Vmn1r43 A G 6: 89,846,841 (GRCm39) L215P probably damaging Het
Vmn2r100 T A 17: 19,742,785 (GRCm39) S386R probably benign Het
Xpa T A 4: 46,183,089 (GRCm39) R233S 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
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
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
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'- CAACATTACTCACCCTTGGTAAAG -3'
(R):5'- TTTCCCACATTCAGGGCTGC -3'

Sequencing Primer
(F):5'- CCTTGGTAAAGGCACAGTTGTCC -3'
(R):5'- AGGTCCAGTAATGTTCCAGAGTCC -3'
Posted On 2018-06-22