Incidental Mutation 'R7159:Rc3h2'
ID 557480
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 045259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7159 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37299659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 124 (S124G)
Ref Sequence ENSEMBL: ENSMUSP00000108556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect probably benign
Transcript: ENSMUST00000100143
AA Change: S124G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: S124G

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: S124G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: S124G

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: S124G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: S124G

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
AA Change: S124G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: S124G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,380,327 (GRCm39) V500E possibly damaging Het
Ankrd34b T C 13: 92,575,970 (GRCm39) S401P probably benign Het
Arfgef2 T A 2: 166,668,848 (GRCm39) D41E probably benign Het
Arid1a T C 4: 133,480,879 (GRCm39) N15S unknown Het
Arsa A T 15: 89,358,921 (GRCm39) probably null Het
B3gnt9 C A 8: 105,981,064 (GRCm39) C108F probably damaging Het
Bbc3 C A 7: 16,047,733 (GRCm39) Y152* probably null Het
Btbd1 T C 7: 81,467,957 (GRCm39) M188V probably benign Het
Caln1 C T 5: 130,851,838 (GRCm39) T209I probably benign Het
Casp12 C T 9: 5,353,763 (GRCm39) P266S possibly damaging Het
Ccm2l A T 2: 152,912,787 (GRCm39) I109F probably damaging Het
Chst15 A C 7: 131,871,987 (GRCm39) L98R probably damaging Het
Ctsq A G 13: 61,186,737 (GRCm39) M89T probably benign Het
Ddx39b T C 17: 35,465,986 (GRCm39) V169A probably benign Het
Fhad1 T C 4: 141,678,927 (GRCm39) H583R probably benign Het
Fndc1 T A 17: 8,019,763 (GRCm39) I139F probably damaging Het
Gm7145 C G 1: 117,913,561 (GRCm39) H148D probably benign Het
Gpr62 C A 9: 106,342,641 (GRCm39) A96S probably damaging Het
Gsap T A 5: 21,475,618 (GRCm39) probably null Het
Hdhd5 T A 6: 120,500,432 (GRCm39) T89S probably damaging Het
Kcna5 T A 6: 126,510,592 (GRCm39) Y512F probably damaging Het
Krt84 C A 15: 101,438,044 (GRCm39) E304* probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrp6 C A 6: 134,484,514 (GRCm39) V370L probably benign Het
Lrrc3c G A 11: 98,490,144 (GRCm39) G167D probably damaging Het
Man2b1 C T 8: 85,813,909 (GRCm39) T291M probably benign Het
Mapkbp1 A G 2: 119,855,613 (GRCm39) E1438G possibly damaging Het
Med12l A G 3: 59,183,438 (GRCm39) T1947A probably benign Het
Myh15 A T 16: 48,881,937 (GRCm39) T60S probably damaging Het
Myo5a A T 9: 75,078,845 (GRCm39) I868F probably benign Het
Myom3 A T 4: 135,536,162 (GRCm39) I1278F probably damaging Het
Nbn G T 4: 15,983,677 (GRCm39) probably null Het
Ncam2 G T 16: 81,287,262 (GRCm39) S392I probably damaging Het
Nrg3 A C 14: 38,092,692 (GRCm39) L647* probably null Het
Or10j7 A T 1: 173,011,890 (GRCm39) L37Q possibly damaging Het
Or2t35 T C 14: 14,407,251 (GRCm38) S8P possibly damaging Het
Or2y1g A T 11: 49,171,185 (GRCm39) D70V probably damaging Het
Or8j3c T A 2: 86,253,956 (GRCm39) probably null Het
Pcdhb9 A G 18: 37,534,545 (GRCm39) N180D possibly damaging Het
Pcdhga4 A G 18: 37,819,972 (GRCm39) N507S probably damaging Het
Pdilt A G 7: 119,087,174 (GRCm39) V492A probably benign Het
Phf12 A G 11: 77,914,366 (GRCm39) T603A possibly damaging Het
Phox2b T A 5: 67,254,928 (GRCm39) I174F probably benign Het
Polq A T 16: 36,883,215 (GRCm39) Q1793L possibly damaging Het
Prmt9 T C 8: 78,282,393 (GRCm39) F97L probably benign Het
Prpsap1 T C 11: 116,384,870 (GRCm39) E13G probably benign Het
Ptpru A G 4: 131,546,851 (GRCm39) L280P probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rdh5 A G 10: 128,754,184 (GRCm39) I83T possibly damaging Het
Rigi A G 4: 40,213,804 (GRCm39) V618A probably benign Het
Ryr2 T G 13: 11,825,794 (GRCm39) R561S probably damaging Het
Scara3 A G 14: 66,158,229 (GRCm39) L593P probably damaging Het
Scfd2 T C 5: 74,692,004 (GRCm39) I93V probably benign Het
Sema4f C A 6: 82,894,864 (GRCm39) V444L possibly damaging Het
Slco1a7 T A 6: 141,719,504 (GRCm39) M1L probably damaging Het
Spata33 T C 8: 123,941,134 (GRCm39) L61P unknown Het
Stard10 A T 7: 100,992,343 (GRCm39) probably null Het
Stub1 T C 17: 26,051,038 (GRCm39) I115V probably benign Het
Tlcd3b T C 7: 126,426,667 (GRCm39) F80S probably damaging Het
Tmem247 C T 17: 87,225,710 (GRCm39) T50I probably benign Het
Tnrc6b A G 15: 80,771,223 (GRCm39) M1103V possibly damaging Het
Trim61 T C 8: 65,466,526 (GRCm39) Y245C probably benign Het
Trip13 T C 13: 74,068,130 (GRCm39) I284V probably benign Het
Trpm4 T C 7: 44,976,692 (GRCm39) probably null Het
Ttn C A 2: 76,740,092 (GRCm39) L3528F unknown Het
Ttn A G 2: 76,560,918 (GRCm39) L29161S probably damaging Het
Ube2v2 G A 16: 15,398,948 (GRCm39) T47I probably benign Het
Vwa5b1 C T 4: 138,302,733 (GRCm39) A921T possibly damaging Het
Xylt1 T A 7: 117,236,829 (GRCm39) F526Y probably damaging 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
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
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'- CCCTAGAAACTGGCATCCTC -3'
(R):5'- GCACCAAGATGAAATCTGAAGC -3'

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