Incidental Mutation 'R0363:Prdm13'
ID 65703
Institutional Source Beutler Lab
Gene Symbol Prdm13
Ensembl Gene ENSMUSG00000040478
Gene Name PR domain containing 13
Synonyms
MMRRC Submission 038569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0363 (G1)
Quality Score 86
Status Validated
Chromosome 4
Chromosomal Location 21677480-21685963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 21679737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 251 (V251G)
Ref Sequence ENSEMBL: ENSMUSP00000092761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]
AlphaFold E9PZZ1
Predicted Effect unknown
Transcript: ENSMUST00000076206
AA Change: V203G
SMART Domains Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: V203G

DomainStartEndE-ValueType
Blast:SET 2 118 4e-72 BLAST
PDB:3EP0|B 56 132 1e-8 PDB
ZnF_C2H2 137 159 3.34e-2 SMART
low complexity region 204 220 N/A INTRINSIC
low complexity region 231 252 N/A INTRINSIC
low complexity region 267 275 N/A INTRINSIC
low complexity region 302 335 N/A INTRINSIC
low complexity region 336 350 N/A INTRINSIC
low complexity region 353 370 N/A INTRINSIC
low complexity region 392 404 N/A INTRINSIC
low complexity region 546 571 N/A INTRINSIC
ZnF_C2H2 572 594 4.4e-2 SMART
ZnF_C2H2 600 622 1.92e-2 SMART
ZnF_C2H2 629 652 2.79e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000095141
AA Change: V251G
SMART Domains Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: V251G

DomainStartEndE-ValueType
Blast:SET 42 166 1e-73 BLAST
PDB:3EP0|B 104 180 1e-8 PDB
ZnF_C2H2 185 207 3.34e-2 SMART
low complexity region 252 268 N/A INTRINSIC
low complexity region 279 300 N/A INTRINSIC
low complexity region 315 323 N/A INTRINSIC
low complexity region 350 383 N/A INTRINSIC
low complexity region 384 398 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
low complexity region 440 452 N/A INTRINSIC
low complexity region 594 619 N/A INTRINSIC
ZnF_C2H2 620 642 4.4e-2 SMART
ZnF_C2H2 648 670 1.92e-2 SMART
ZnF_C2H2 677 700 2.79e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149516
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.5%
Validation Efficiency 98% (78/80)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in the number of GABAergic and glycinergic amacrine cells, a thin retinal inner nuclear layer, altered retinal inner plexiform layer morphology, and abnormally increased spatial, temporal, and contrast sensitivities in optokinetic reponses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T A 4: 109,381,520 (GRCm39) Q86L probably null Het
Abhd2 A G 7: 79,000,561 (GRCm39) D262G possibly damaging Het
Abhd5 T C 9: 122,197,211 (GRCm39) F133L possibly damaging Het
Agap2 T A 10: 126,926,834 (GRCm39) V957E probably damaging Het
Ankrd12 T C 17: 66,292,676 (GRCm39) K919R probably damaging Het
Ap1m1 T C 8: 73,006,738 (GRCm39) S245P probably benign Het
Ap1m1 T C 8: 73,010,568 (GRCm39) probably benign Het
Apcdd1 A G 18: 63,070,168 (GRCm39) Y145C possibly damaging Het
Apob A T 12: 8,060,136 (GRCm39) N2840Y probably damaging Het
Arel1 A G 12: 84,981,027 (GRCm39) S327P probably damaging Het
Arhgap21 C A 2: 20,885,944 (GRCm39) R421L probably damaging Het
Ccdc85a A T 11: 28,533,400 (GRCm39) I48N probably damaging Het
Chd6 A G 2: 160,856,244 (GRCm39) S672P probably damaging Het
Ciz1 G C 2: 32,267,375 (GRCm39) probably null Het
Cmbl G A 15: 31,585,588 (GRCm39) probably null Het
Cmya5 A G 13: 93,231,377 (GRCm39) V1237A possibly damaging Het
Cntnap4 A T 8: 113,583,143 (GRCm39) K1074* probably null Het
Cntnap5b A G 1: 100,202,193 (GRCm39) M347V probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cuzd1 A T 7: 130,917,991 (GRCm39) M203K probably benign Het
Cyp3a16 T C 5: 145,392,689 (GRCm39) probably benign Het
Dlgap3 A G 4: 127,129,314 (GRCm39) E892G probably damaging Het
Dnah7b T C 1: 46,275,948 (GRCm39) S2612P probably damaging Het
Epas1 T G 17: 87,113,276 (GRCm39) probably benign Het
Etv5 G A 16: 22,230,458 (GRCm39) A192V probably benign Het
Fa2h T A 8: 112,075,921 (GRCm39) H234L probably damaging Het
Fcho1 T C 8: 72,170,134 (GRCm39) Y47C probably damaging Het
Flvcr1 T A 1: 190,744,451 (GRCm39) probably benign Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b T C 8: 82,610,886 (GRCm39) probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kmt2a A G 9: 44,721,010 (GRCm39) probably null Het
Krt4 G A 15: 101,833,081 (GRCm39) R9C possibly damaging Het
Map1a T C 2: 121,132,525 (GRCm39) S876P probably damaging Het
Mettl21e A G 1: 44,250,190 (GRCm39) probably null Het
Msh2 C T 17: 88,024,904 (GRCm39) T594M probably benign Het
Mtmr3 A G 11: 4,437,536 (GRCm39) S973P probably damaging Het
Muc5ac A T 7: 141,354,697 (GRCm39) M889L probably benign Het
Ntn1 A G 11: 68,276,369 (GRCm39) I193T probably benign Het
Nudt13 A T 14: 20,359,851 (GRCm39) I193F probably damaging Het
Or2n1 A G 17: 38,486,338 (GRCm39) D121G probably damaging Het
Or3a1 C T 11: 74,225,925 (GRCm39) G44D probably damaging Het
Or4b1b A T 2: 90,112,200 (GRCm39) S240T probably damaging Het
Or5p73 A T 7: 108,064,941 (GRCm39) T137S possibly damaging Het
Otulin A G 15: 27,606,381 (GRCm39) V344A probably damaging Het
P2rx7 C T 5: 122,795,093 (GRCm39) Q128* probably null Het
Pcdhb22 G A 18: 37,652,213 (GRCm39) R227H probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pltp C T 2: 164,682,056 (GRCm39) R394H probably benign Het
Ppip5k1 C G 2: 121,177,836 (GRCm39) A324P probably damaging Het
Pramel14 C T 4: 143,718,221 (GRCm39) M407I probably benign Het
Prkg1 T C 19: 31,641,596 (GRCm39) E29G probably damaging Het
Prrc2c A G 1: 162,525,380 (GRCm39) S409P unknown Het
Rp1 T A 1: 4,417,941 (GRCm39) D1057V probably damaging Het
Rttn G A 18: 89,029,079 (GRCm39) C599Y probably damaging Het
Shisa6 C T 11: 66,416,153 (GRCm39) R213Q probably benign Het
Slc3a1 T C 17: 85,340,273 (GRCm39) Y232H probably damaging Het
Slx4 G A 16: 3,797,953 (GRCm39) A1477V probably damaging Het
Ssrp1 T G 2: 84,871,018 (GRCm39) I218S probably damaging Het
St6galnac1 A C 11: 116,659,756 (GRCm39) S186A probably benign Het
Stab1 A G 14: 30,880,965 (GRCm39) probably benign Het
Sycp2 T C 2: 177,988,204 (GRCm39) probably benign Het
Syne2 T A 12: 76,118,981 (GRCm39) I5867N probably damaging Het
Taar7f T A 10: 23,925,839 (GRCm39) D144E probably damaging Het
Tlcd5 A T 9: 43,023,048 (GRCm39) M84K probably damaging Het
Tmem87b T A 2: 128,673,153 (GRCm39) S196T probably damaging Het
Tnfrsf21 A G 17: 43,348,768 (GRCm39) T127A probably benign Het
Trp73 A G 4: 154,148,406 (GRCm39) I336T probably benign Het
Ttl A G 2: 128,917,981 (GRCm39) I148V probably damaging Het
Ttll7 T C 3: 146,649,970 (GRCm39) Y667H probably benign Het
Ubr4 A G 4: 139,119,171 (GRCm39) T152A probably damaging Het
Vmn1r58 A T 7: 5,413,636 (GRCm39) V198E probably damaging Het
Vps52 T A 17: 34,181,091 (GRCm39) F376L probably benign Het
Zfp1007 T C 5: 109,824,754 (GRCm39) E232G probably benign Het
Other mutations in Prdm13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02940:Prdm13 APN 4 21,683,421 (GRCm39) nonsense probably null
IGL03211:Prdm13 APN 4 21,678,492 (GRCm39) missense probably damaging 1.00
R0512:Prdm13 UTSW 4 21,678,490 (GRCm39) missense probably damaging 1.00
R0726:Prdm13 UTSW 4 21,683,914 (GRCm39) missense unknown
R1056:Prdm13 UTSW 4 21,678,544 (GRCm39) missense probably damaging 1.00
R1433:Prdm13 UTSW 4 21,678,909 (GRCm39) missense probably damaging 1.00
R2005:Prdm13 UTSW 4 21,685,695 (GRCm39) utr 5 prime probably benign
R2292:Prdm13 UTSW 4 21,683,914 (GRCm39) missense unknown
R2382:Prdm13 UTSW 4 21,678,277 (GRCm39) missense possibly damaging 0.73
R3620:Prdm13 UTSW 4 21,683,532 (GRCm39) missense unknown
R4039:Prdm13 UTSW 4 21,685,774 (GRCm39) utr 5 prime probably benign
R4417:Prdm13 UTSW 4 21,678,756 (GRCm39) missense probably benign 0.39
R4453:Prdm13 UTSW 4 21,679,464 (GRCm39) missense unknown
R4850:Prdm13 UTSW 4 21,678,243 (GRCm39) missense possibly damaging 0.92
R4864:Prdm13 UTSW 4 21,685,543 (GRCm39) missense unknown
R4934:Prdm13 UTSW 4 21,678,223 (GRCm39) utr 3 prime probably benign
R5138:Prdm13 UTSW 4 21,679,507 (GRCm39) missense unknown
R5304:Prdm13 UTSW 4 21,678,984 (GRCm39) missense probably damaging 1.00
R5394:Prdm13 UTSW 4 21,679,455 (GRCm39) missense unknown
R5909:Prdm13 UTSW 4 21,683,894 (GRCm39) missense unknown
R5964:Prdm13 UTSW 4 21,683,852 (GRCm39) nonsense probably null
R6261:Prdm13 UTSW 4 21,678,366 (GRCm39) missense probably damaging 1.00
R7166:Prdm13 UTSW 4 21,683,528 (GRCm39) missense unknown
R7175:Prdm13 UTSW 4 21,679,473 (GRCm39) missense unknown
R7549:Prdm13 UTSW 4 21,679,072 (GRCm39) missense probably damaging 1.00
R7966:Prdm13 UTSW 4 21,679,932 (GRCm39) missense unknown
R8319:Prdm13 UTSW 4 21,679,327 (GRCm39) missense unknown
R8326:Prdm13 UTSW 4 21,679,557 (GRCm39) missense unknown
R8701:Prdm13 UTSW 4 21,678,615 (GRCm39) missense probably damaging 1.00
R8924:Prdm13 UTSW 4 21,679,125 (GRCm39) missense possibly damaging 0.94
R8947:Prdm13 UTSW 4 21,678,817 (GRCm39) missense probably damaging 1.00
R9165:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9168:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9170:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
R9171:Prdm13 UTSW 4 21,679,659 (GRCm39) missense unknown
Z1176:Prdm13 UTSW 4 21,679,518 (GRCm39) missense unknown
Z1177:Prdm13 UTSW 4 21,679,623 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACTATCCCCAGGAATTGACTGTGC -3'
(R):5'- CTTCACTGGAAAGGTCCAGGTCAC -3'

Sequencing Primer
(F):5'- GGAAGCCTCCCGCTTGA -3'
(R):5'- GAAAGGTCCAGGTCACCTATTTTG -3'
Posted On 2013-08-08