Incidental Mutation 'R7162:Rc3h2'
ID 557628
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 045261-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37299617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 138 (V138L)
Ref Sequence ENSEMBL: ENSMUSP00000108556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect possibly damaging
Transcript: ENSMUST00000100143
AA Change: V138L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: V138L

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 possibly damaging
Transcript: ENSMUST00000112934
AA Change: V138L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: V138L

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 possibly damaging
Transcript: ENSMUST00000112936
AA Change: V138L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: V138L

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 damaging
Transcript: ENSMUST00000125619
AA Change: V138L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: V138L

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
Meta Mutation Damage Score 0.1059 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C T 1: 87,055,471 (GRCm39) T506I unknown Het
Ank1 T C 8: 23,622,370 (GRCm39) W1640R possibly damaging Het
Atp2a2 A G 5: 122,627,387 (GRCm39) M126T probably benign Het
Bptf A T 11: 106,934,457 (GRCm39) probably null Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
Cables1 T C 18: 12,059,423 (GRCm39) probably null Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Cacna1b A C 2: 24,590,034 (GRCm39) I558S probably benign Het
Ccdc166 A G 15: 75,853,044 (GRCm39) S308P probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfhr2 A G 1: 139,741,264 (GRCm39) V237A probably benign Het
Clybl C A 14: 122,608,732 (GRCm39) S108* probably null Het
Cubn A G 2: 13,347,309 (GRCm39) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,744,777 (GRCm39) F185S probably damaging Het
Dennd2c T A 3: 103,063,423 (GRCm39) V620D probably damaging Het
Dis3l2 T C 1: 86,971,752 (GRCm39) F597L possibly damaging Het
Eif3f G A 7: 108,539,938 (GRCm39) R282H probably benign Het
Ell C A 8: 71,031,559 (GRCm39) R86S possibly damaging Het
Eppk1 A G 15: 75,990,809 (GRCm39) V2024A possibly damaging Het
Exoc6 T C 19: 37,565,566 (GRCm39) I214T probably damaging Het
Faim2 A G 15: 99,419,048 (GRCm39) probably null Het
Gli1 A G 10: 127,168,306 (GRCm39) S516P probably benign Het
Gm18596 A T 10: 77,578,034 (GRCm39) S147T unknown Het
Gm19965 A G 1: 116,750,095 (GRCm39) Y592C unknown Het
Gng12 T C 6: 66,994,285 (GRCm39) S36P unknown Het
Gramd2b G A 18: 56,618,529 (GRCm39) probably null Het
Hmcn1 T A 1: 150,624,744 (GRCm39) T1054S probably benign Het
Ifngr1 A G 10: 19,485,101 (GRCm39) T367A probably benign Het
Il21r G T 7: 125,231,483 (GRCm39) V304L probably benign Het
Ino80d G A 1: 63,104,894 (GRCm39) T394M probably damaging Het
Itfg2 C T 6: 128,387,546 (GRCm39) V380M probably damaging Het
Kcna5 C T 6: 126,510,806 (GRCm39) V441I possibly damaging Het
Kcp T A 6: 29,497,199 (GRCm39) probably null Het
Kdf1 C T 4: 133,257,229 (GRCm39) T375I unknown Het
Klk1b1 A T 7: 43,618,671 (GRCm39) D16V probably damaging Het
Krtap5-4 A C 7: 141,857,335 (GRCm39) T2P unknown Het
Lamtor1 A G 7: 101,555,243 (GRCm39) D13G probably benign Het
Lrp10 T C 14: 54,703,163 (GRCm39) V72A possibly damaging Het
Lrrc1 C A 9: 77,339,472 (GRCm39) A503S probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Myo5b C G 18: 74,828,498 (GRCm39) L717V probably benign Het
Myoz3 T A 18: 60,709,485 (GRCm39) R225S probably damaging Het
Myrf A G 19: 10,196,010 (GRCm39) F335L possibly damaging Het
Nfib A C 4: 82,268,677 (GRCm39) S292A probably damaging Het
Notch3 G T 17: 32,365,423 (GRCm39) H1096Q probably damaging Het
Nt5c1a A G 4: 123,107,898 (GRCm39) R194G probably benign Het
Or10d3 A G 9: 39,461,525 (GRCm39) I214T probably damaging Het
Or5a1 A G 19: 12,097,501 (GRCm39) F192L possibly damaging Het
Parp4 A G 14: 56,886,333 (GRCm39) E1804G unknown Het
Pcdhac2 A T 18: 37,278,840 (GRCm39) I607L probably benign Het
Pcdhb5 A G 18: 37,454,739 (GRCm39) D373G probably benign Het
Pcf11 A T 7: 92,313,221 (GRCm39) V154E probably damaging Het
Pdia3 T G 2: 121,260,002 (GRCm39) D180E probably benign Het
Piezo2 C A 18: 63,257,780 (GRCm39) V313F possibly damaging Het
Pik3ap1 C A 19: 41,309,965 (GRCm39) A452S probably benign Het
Plb1 A G 5: 32,507,007 (GRCm39) K1194R probably benign Het
Pld3 A C 7: 27,231,899 (GRCm39) W431G probably damaging Het
Plekha3 T C 2: 76,523,110 (GRCm39) probably null Het
Ppm1f G T 16: 16,732,057 (GRCm39) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,842,881 (GRCm39) D102V probably damaging Het
Rbm27 G A 18: 42,447,092 (GRCm39) G446R unknown Het
Rorc G A 3: 94,284,915 (GRCm39) probably null Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sart3 A G 5: 113,900,896 (GRCm39) Y181H probably damaging Het
Sbpl A T 17: 24,172,439 (GRCm39) M160K possibly damaging Het
Sh3gl3 A G 7: 81,933,350 (GRCm39) S238G probably benign Het
Slc22a30 A G 19: 8,314,081 (GRCm39) probably null Het
Slc3a1 A T 17: 85,371,442 (GRCm39) R665* probably null Het
Stk32a C A 18: 43,430,649 (GRCm39) Y186* probably null Het
Stxbp6 T C 12: 44,949,663 (GRCm39) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm39) F2508S possibly damaging Het
Tas1r1 A G 4: 152,116,695 (GRCm39) V313A possibly damaging Het
Tmem81 T C 1: 132,435,355 (GRCm39) Y54H probably damaging Het
Tmtc1 T C 6: 148,172,985 (GRCm39) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,942,456 (GRCm39) N989K possibly damaging Het
Trim72 T A 7: 127,606,821 (GRCm39) M145K probably benign Het
Ttll9 T A 2: 152,831,523 (GRCm39) S154T probably damaging Het
Tusc3 T C 8: 39,593,741 (GRCm39) V286A probably benign Het
Vat1l C A 8: 114,963,518 (GRCm39) H185N probably damaging Het
Vmn1r209 A T 13: 22,990,128 (GRCm39) D187E probably damaging Het
Vmn2r87 T C 10: 130,313,416 (GRCm39) N450S probably benign Het
Wdr7 T A 18: 63,857,210 (GRCm39) D95E possibly damaging Het
Zfp937 C T 2: 150,081,439 (GRCm39) H490Y probably benign Het
Zfp974 A T 7: 27,610,944 (GRCm39) H260Q possibly 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
R7159:Rc3h2 UTSW 2 37,299,659 (GRCm39) missense probably benign 0.39
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'- TTTACCTGGCCCTAGAAACTGG -3'
(R):5'- GCACCAAGATGAAATCTGAAGC -3'

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