Incidental Mutation 'R7209:Rrp12'
ID 560973
Institutional Source Beutler Lab
Gene Symbol Rrp12
Ensembl Gene ENSMUSG00000035049
Gene Name ribosomal RNA processing 12 homolog
Synonyms
MMRRC Submission 045338-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R7209 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 41851290-41884612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41861388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 973 (V973G)
Ref Sequence ENSEMBL: ENSMUSP00000039853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038677]
AlphaFold Q6P5B0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038677
AA Change: V973G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: V973G

DomainStartEndE-ValueType
low complexity region 164 175 N/A INTRINSIC
Pfam:NUC173 473 670 1.2e-72 PFAM
SCOP:d1qbkb_ 711 1087 2e-6 SMART
low complexity region 1157 1184 N/A INTRINSIC
low complexity region 1231 1243 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,767,268 (GRCm39) Y61H probably damaging Het
Adgrb1 T G 15: 74,441,797 (GRCm39) V966G possibly damaging Het
Adh5 G A 3: 138,148,909 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,333,207 (GRCm39) V28A probably damaging Het
Apbb1 T A 7: 105,215,292 (GRCm39) I450F probably damaging Het
Arhgap23 C T 11: 97,366,911 (GRCm39) T1064I probably damaging Het
Arhgap23 G C 11: 97,383,273 (GRCm39) probably null Het
Atg4b A G 1: 93,702,955 (GRCm39) I128M probably damaging Het
Baat A T 4: 49,503,065 (GRCm39) I19N probably damaging Het
Bspry T G 4: 62,404,852 (GRCm39) I216S possibly damaging Het
Commd9 T A 2: 101,725,483 (GRCm39) S19T possibly damaging Het
Cr2 A G 1: 194,851,032 (GRCm39) C145R probably damaging Het
Cyp2c68 A G 19: 39,677,649 (GRCm39) L447P probably damaging Het
Depdc1b T C 13: 108,519,389 (GRCm39) M333T possibly damaging Het
Dhx9 T C 1: 153,340,369 (GRCm39) T710A possibly damaging Het
Dnah5 T C 15: 28,459,371 (GRCm39) V4530A possibly damaging Het
Dohh T A 10: 81,221,874 (GRCm39) H89Q probably damaging Het
Dop1b T A 16: 93,566,733 (GRCm39) N1171K probably benign Het
Dscam T C 16: 96,451,544 (GRCm39) probably null Het
Entpd5 T A 12: 84,443,702 (GRCm39) S14C probably benign Het
Eqtn G A 4: 94,813,806 (GRCm39) S125F probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fgf18 A T 11: 33,084,315 (GRCm39) D46E probably benign Het
Foxa1 T A 12: 57,590,077 (GRCm39) M48L probably benign Het
Gabrg1 C A 5: 70,911,513 (GRCm39) C417F probably damaging Het
Glrp1 T A 1: 88,431,004 (GRCm39) Q122L unknown Het
Gm5622 A G 14: 51,893,363 (GRCm39) I97V possibly damaging Het
Gusb A G 5: 130,027,387 (GRCm39) V306A probably benign Het
Hars1 A G 18: 36,906,593 (GRCm39) S126P probably benign Het
Herc1 A G 9: 66,292,314 (GRCm39) S356G possibly damaging Het
Hydin C A 8: 111,216,424 (GRCm39) Y1336* probably null Het
Iftap T C 2: 101,396,727 (GRCm39) *217W probably null Het
Kin T C 2: 10,096,564 (GRCm39) Y138H possibly damaging Het
Lypd2 C T 15: 74,604,266 (GRCm39) V101M probably benign Het
Madcam1 A T 10: 79,500,892 (GRCm39) T70S possibly damaging Het
Man1a2 A G 3: 100,554,395 (GRCm39) C112R unknown Het
Mia2 T A 12: 59,201,176 (GRCm39) V198E possibly damaging Het
Mpdz C T 4: 81,225,114 (GRCm39) V1438M possibly damaging Het
Mtif2 G A 11: 29,479,996 (GRCm39) V21M probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nln G A 13: 104,209,406 (GRCm39) Q56* probably null Het
Nlrp4b T C 7: 10,444,297 (GRCm39) V82A probably benign Het
Obscn C A 11: 58,975,933 (GRCm39) E2065* probably null Het
Or10g1 A G 14: 52,647,550 (GRCm39) C260R possibly damaging Het
Pilrb2 C T 5: 137,869,126 (GRCm39) probably null Het
Plekhh1 C A 12: 79,097,150 (GRCm39) D99E probably benign Het
Polr2b T A 5: 77,491,026 (GRCm39) F956I probably damaging Het
Ppp3cc A G 14: 70,504,947 (GRCm39) F20L probably benign Het
Prmt9 T C 8: 78,291,627 (GRCm39) V333A probably benign Het
Psd4 T C 2: 24,287,357 (GRCm39) S430P probably damaging Het
Relch C A 1: 105,678,082 (GRCm39) P1136T probably damaging Het
Rxfp2 A G 5: 149,976,563 (GRCm39) probably null Het
S100a6 G A 3: 90,521,095 (GRCm39) A8T possibly damaging Het
Sgsm2 C A 11: 74,745,151 (GRCm39) G717V probably damaging Het
Sipa1 A G 19: 5,705,003 (GRCm39) Y531H probably damaging Het
Slc45a1 A C 4: 150,719,669 (GRCm39) probably null Het
Spopfm3 A T 3: 94,106,012 (GRCm39) Q110L probably benign Het
Srbd1 C A 17: 86,308,948 (GRCm39) L743F probably damaging Het
Taar2 A T 10: 23,816,597 (GRCm39) I46F possibly damaging Het
Tmem241 A T 18: 12,237,229 (GRCm39) V69D probably damaging Het
Tns1 T C 1: 73,993,074 (GRCm39) S535G possibly damaging Het
Trgc3 A G 13: 19,445,334 (GRCm39) N94S probably benign Het
Ttc34 C A 4: 154,923,585 (GRCm39) P98Q probably damaging Het
Ubr1 C A 2: 120,693,246 (GRCm39) R1720L probably benign Het
Ubr3 T A 2: 69,846,478 (GRCm39) D1597E probably benign Het
Unc79 T C 12: 103,091,883 (GRCm39) M1930T probably benign Het
Vmn2r100 A T 17: 19,751,576 (GRCm39) I603F not run Het
Vps26b A T 9: 26,921,288 (GRCm39) S304T probably benign Het
Zfp952 A T 17: 33,222,444 (GRCm39) T308S possibly damaging Het
Other mutations in Rrp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Rrp12 APN 19 41,875,533 (GRCm39) missense possibly damaging 0.94
IGL00430:Rrp12 APN 19 41,865,773 (GRCm39) critical splice donor site probably null
IGL00496:Rrp12 APN 19 41,866,466 (GRCm39) critical splice donor site probably null
IGL00953:Rrp12 APN 19 41,860,231 (GRCm39) missense possibly damaging 0.51
IGL01320:Rrp12 APN 19 41,866,375 (GRCm39) missense probably damaging 1.00
IGL01479:Rrp12 APN 19 41,853,641 (GRCm39) missense probably benign 0.05
IGL01939:Rrp12 APN 19 41,859,334 (GRCm39) missense probably damaging 0.99
IGL02147:Rrp12 APN 19 41,874,620 (GRCm39) missense probably damaging 1.00
IGL02255:Rrp12 APN 19 41,861,410 (GRCm39) missense probably damaging 1.00
IGL02756:Rrp12 APN 19 41,884,500 (GRCm39) missense probably benign 0.03
IGL02793:Rrp12 APN 19 41,860,005 (GRCm39) missense probably damaging 1.00
IGL03026:Rrp12 APN 19 41,861,436 (GRCm39) missense probably damaging 1.00
IGL03202:Rrp12 APN 19 41,857,205 (GRCm39) splice site probably null
IGL03393:Rrp12 APN 19 41,860,232 (GRCm39) missense possibly damaging 0.91
R0137:Rrp12 UTSW 19 41,862,289 (GRCm39) missense probably benign
R0234:Rrp12 UTSW 19 41,860,199 (GRCm39) missense probably damaging 1.00
R0234:Rrp12 UTSW 19 41,860,199 (GRCm39) missense probably damaging 1.00
R0522:Rrp12 UTSW 19 41,863,144 (GRCm39) splice site probably benign
R0616:Rrp12 UTSW 19 41,880,988 (GRCm39) missense possibly damaging 0.95
R1509:Rrp12 UTSW 19 41,870,639 (GRCm39) missense probably damaging 1.00
R1537:Rrp12 UTSW 19 41,875,242 (GRCm39) missense probably damaging 0.97
R1593:Rrp12 UTSW 19 41,851,680 (GRCm39) missense probably benign 0.00
R1635:Rrp12 UTSW 19 41,857,224 (GRCm39) missense probably benign 0.00
R1642:Rrp12 UTSW 19 41,860,176 (GRCm39) missense probably damaging 1.00
R1696:Rrp12 UTSW 19 41,862,188 (GRCm39) missense probably damaging 1.00
R1827:Rrp12 UTSW 19 41,868,920 (GRCm39) missense possibly damaging 0.95
R1844:Rrp12 UTSW 19 41,866,222 (GRCm39) critical splice donor site probably null
R1950:Rrp12 UTSW 19 41,881,029 (GRCm39) missense probably damaging 1.00
R2010:Rrp12 UTSW 19 41,861,376 (GRCm39) missense probably benign
R2115:Rrp12 UTSW 19 41,879,533 (GRCm39) missense probably benign 0.38
R2136:Rrp12 UTSW 19 41,881,038 (GRCm39) missense probably damaging 1.00
R2386:Rrp12 UTSW 19 41,859,723 (GRCm39) missense probably benign 0.41
R3741:Rrp12 UTSW 19 41,874,167 (GRCm39) missense probably damaging 1.00
R4096:Rrp12 UTSW 19 41,875,587 (GRCm39) missense probably benign 0.32
R4292:Rrp12 UTSW 19 41,861,344 (GRCm39) splice site probably null
R4407:Rrp12 UTSW 19 41,880,990 (GRCm39) missense probably damaging 1.00
R4629:Rrp12 UTSW 19 41,871,955 (GRCm39) missense probably benign 0.03
R4698:Rrp12 UTSW 19 41,861,481 (GRCm39) missense probably benign 0.12
R4702:Rrp12 UTSW 19 41,859,975 (GRCm39) missense probably damaging 1.00
R4716:Rrp12 UTSW 19 41,865,867 (GRCm39) missense probably damaging 1.00
R4837:Rrp12 UTSW 19 41,865,944 (GRCm39) splice site probably null
R5282:Rrp12 UTSW 19 41,865,029 (GRCm39) missense probably benign
R5327:Rrp12 UTSW 19 41,881,035 (GRCm39) missense probably damaging 1.00
R5621:Rrp12 UTSW 19 41,868,856 (GRCm39) missense probably benign
R5762:Rrp12 UTSW 19 41,868,591 (GRCm39) missense possibly damaging 0.88
R5947:Rrp12 UTSW 19 41,859,247 (GRCm39) critical splice donor site probably null
R6213:Rrp12 UTSW 19 41,857,217 (GRCm39) missense probably benign
R6407:Rrp12 UTSW 19 41,872,181 (GRCm39) missense probably damaging 0.98
R6980:Rrp12 UTSW 19 41,878,582 (GRCm39) missense probably damaging 0.98
R7179:Rrp12 UTSW 19 41,872,217 (GRCm39) missense probably benign 0.03
R7186:Rrp12 UTSW 19 41,859,744 (GRCm39) critical splice acceptor site probably null
R7194:Rrp12 UTSW 19 41,859,979 (GRCm39) missense probably benign
R7206:Rrp12 UTSW 19 41,866,478 (GRCm39) missense probably damaging 1.00
R7248:Rrp12 UTSW 19 41,871,877 (GRCm39) missense possibly damaging 0.82
R7976:Rrp12 UTSW 19 41,879,548 (GRCm39) missense probably benign 0.04
R8075:Rrp12 UTSW 19 41,851,713 (GRCm39) missense probably damaging 0.96
R8322:Rrp12 UTSW 19 41,868,658 (GRCm39) missense probably benign 0.09
R9010:Rrp12 UTSW 19 41,871,929 (GRCm39) missense probably benign 0.11
R9026:Rrp12 UTSW 19 41,860,223 (GRCm39) missense probably benign 0.45
R9029:Rrp12 UTSW 19 41,859,718 (GRCm39) nonsense probably null
R9096:Rrp12 UTSW 19 41,878,577 (GRCm39) missense probably benign 0.11
R9097:Rrp12 UTSW 19 41,878,577 (GRCm39) missense probably benign 0.11
R9168:Rrp12 UTSW 19 41,865,603 (GRCm39) missense probably benign 0.01
R9709:Rrp12 UTSW 19 41,857,231 (GRCm39) missense probably benign
Z1177:Rrp12 UTSW 19 41,854,006 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCCTACAAGCCCCTCTAAGG -3'
(R):5'- AGGCTCTGGTATCTGACAGC -3'

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