Incidental Mutation 'R6261:Prdm13'
ID 506685
Institutional Source Beutler Lab
Gene Symbol Prdm13
Ensembl Gene ENSMUSG00000040478
Gene Name PR domain containing 13
Synonyms
MMRRC Submission 044404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6261 (G1)
Quality Score 211.009
Status Validated
Chromosome 4
Chromosomal Location 21677480-21685963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21678366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 708 (K708R)
Ref Sequence ENSEMBL: ENSMUSP00000092761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076206] [ENSMUST00000095141]
AlphaFold E9PZZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000076206
AA Change: K660R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075562
Gene: ENSMUSG00000040478
AA Change: K660R

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 probably damaging
Transcript: ENSMUST00000095141
AA Change: K708R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092761
Gene: ENSMUSG00000040478
AA Change: K708R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging 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
R0363:Prdm13 UTSW 4 21,679,737 (GRCm39) missense unknown
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
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'- AATGAAGCCCTTCTTGTCCC -3'
(R):5'- AAGCCGCTCAAGTGCAAAG -3'

Sequencing Primer
(F):5'- TACTGTGTCCTCGTCCCTG -3'
(R):5'- TTCGGCGACCCCAGCAATCTCAACA -3'
Posted On 2018-03-15