Incidental Mutation 'R0480:Prr14l'
ID 41910
Institutional Source Beutler Lab
Gene Symbol Prr14l
Ensembl Gene ENSMUSG00000054280
Gene Name proline rich 14-like
Synonyms Prl14l, 6030436E02Rik, C330019G07Rik
MMRRC Submission 038680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R0480 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 32947164-33011600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32987224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 757 (E757G)
Ref Sequence ENSEMBL: ENSMUSP00000113259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]
AlphaFold E9Q7C4
Predicted Effect probably benign
Transcript: ENSMUST00000120129
AA Change: E757G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: E757G

DomainStartEndE-ValueType
low complexity region 720 731 N/A INTRINSIC
low complexity region 1433 1446 N/A INTRINSIC
low complexity region 1471 1480 N/A INTRINSIC
Pfam:Tantalus 1838 1895 2.9e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144673
SMART Domains Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574

DomainStartEndE-ValueType
Pfam:Tantalus 158 193 1.2e-15 PFAM
Pfam:PS_Dcarbxylase 332 575 2.1e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155392
SMART Domains Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280

DomainStartEndE-ValueType
low complexity region 276 289 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 99% (117/118)
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,012 (GRCm39) L165F probably damaging Het
Adamts18 A G 8: 114,465,450 (GRCm39) V714A possibly damaging Het
Adamtsl1 G T 4: 86,171,055 (GRCm39) A518S probably benign Het
Adcy2 C T 13: 68,880,231 (GRCm39) V363M probably damaging Het
Ago4 G T 4: 126,419,870 (GRCm39) Q36K probably benign Het
Akr1a1 A G 4: 116,497,044 (GRCm39) V172A possibly damaging Het
Alkbh2 T A 5: 114,263,596 (GRCm39) N137I probably damaging Het
Ank3 T A 10: 69,715,756 (GRCm39) S470T probably damaging Het
Ankrd12 T C 17: 66,356,823 (GRCm39) T65A possibly damaging Het
Aox1 A T 1: 58,082,810 (GRCm39) probably benign Het
Arhgap11a A T 2: 113,670,163 (GRCm39) I320N probably benign Het
Arhgap17 G A 7: 122,893,867 (GRCm39) H518Y probably damaging Het
Ascc3 T C 10: 50,611,348 (GRCm39) V1563A probably damaging Het
Atf2 G A 2: 73,649,500 (GRCm39) probably benign Het
Bmpr2 C T 1: 59,884,818 (GRCm39) T268I probably damaging Het
Bpifb9a A G 2: 154,106,608 (GRCm39) I380V probably benign Het
C2cd2 G A 16: 97,678,348 (GRCm39) T363I probably benign Het
Catsperg2 T G 7: 29,420,723 (GRCm39) N190H probably damaging Het
Ccdc138 T C 10: 58,397,789 (GRCm39) L543S probably damaging Het
Ccdc170 A T 10: 4,468,939 (GRCm39) K162N probably benign Het
Cdca5 G T 19: 6,140,328 (GRCm39) R163L probably damaging Het
Cdh24 A G 14: 54,870,054 (GRCm39) F239S probably benign Het
Cdkl3 T C 11: 51,895,882 (GRCm39) V43A probably damaging Het
Cep152 G T 2: 125,423,639 (GRCm39) Q921K possibly damaging Het
Cftr G A 6: 18,274,517 (GRCm39) probably benign Het
Chmp5 T C 4: 40,948,690 (GRCm39) probably benign Het
Cit T A 5: 116,071,452 (GRCm39) probably benign Het
Cngb3 T A 4: 19,309,517 (GRCm39) probably benign Het
Cnr2 A G 4: 135,644,912 (GRCm39) E330G probably benign Het
Cyp21a1 A T 17: 35,020,800 (GRCm39) L473Q probably damaging Het
Dchs1 T C 7: 105,420,696 (GRCm39) T575A probably benign Het
Dedd2 A G 7: 24,903,050 (GRCm39) V303A probably damaging Het
Dmd G T X: 83,469,344 (GRCm39) A2370S probably benign Het
Dnah10 T A 5: 124,885,915 (GRCm39) N3009K probably damaging Het
Dnajc13 G T 9: 104,077,708 (GRCm39) N934K probably damaging Het
Dock1 C T 7: 134,339,447 (GRCm39) L106F probably damaging Het
Fat3 A G 9: 15,909,025 (GRCm39) Y2326H probably benign Het
Fhl5 A T 4: 25,207,101 (GRCm39) C222* probably null Het
Gnmt T C 17: 47,036,854 (GRCm39) T252A probably benign Het
Gpi-ps A G 8: 5,689,888 (GRCm39) noncoding transcript Het
Gsta5 C T 9: 78,210,099 (GRCm39) A135V probably benign Het
Gtf2f1 A G 17: 57,311,307 (GRCm39) probably null Het
Gtf3a T C 5: 146,890,039 (GRCm39) Y187H probably damaging Het
Hdac2 A G 10: 36,850,788 (GRCm39) Y14C probably damaging Het
Hnrnph1 T G 11: 50,276,589 (GRCm39) probably benign Het
Homer2 T C 7: 81,268,351 (GRCm39) D92G possibly damaging Het
Hspg2 T C 4: 137,277,335 (GRCm39) S2885P probably damaging Het
Insr A G 8: 3,211,770 (GRCm39) S1084P probably damaging Het
Ints11 T A 4: 155,972,081 (GRCm39) V362E probably damaging Het
Kank2 T C 9: 21,691,195 (GRCm39) N513S probably damaging Het
Kl T G 5: 150,876,753 (GRCm39) V191G probably damaging Het
Krt23 A G 11: 99,377,524 (GRCm39) probably null Het
Lama3 A C 18: 12,583,481 (GRCm39) T690P possibly damaging Het
Lamb1 G A 12: 31,332,720 (GRCm39) A281T possibly damaging Het
Lck T C 4: 129,449,433 (GRCm39) E299G probably damaging Het
Lonrf1 A G 8: 36,689,864 (GRCm39) V703A probably damaging Het
Ly6f T C 15: 75,143,526 (GRCm39) C78R probably damaging Het
Mapkap1 C T 2: 34,423,793 (GRCm39) probably benign Het
Mast1 T A 8: 85,639,718 (GRCm39) I1204F probably damaging Het
Mbd6 C T 10: 127,121,742 (GRCm39) probably benign Het
Mef2c A T 13: 83,741,020 (GRCm39) T60S probably damaging Het
Mgat4c C T 10: 102,224,980 (GRCm39) T398I probably damaging Het
Mmp12 C A 9: 7,350,016 (GRCm39) H102Q probably damaging Het
Mmp20 G A 9: 7,645,374 (GRCm39) G308E probably damaging Het
Mms19 A T 19: 41,943,285 (GRCm39) L395Q probably damaging Het
Mus81 A G 19: 5,537,959 (GRCm39) probably benign Het
Mypn C T 10: 63,028,982 (GRCm39) R27H probably benign Het
Nav3 T C 10: 109,689,161 (GRCm39) E372G probably damaging Het
Ncoa1 T A 12: 4,389,105 (GRCm39) I57F probably damaging Het
Ncstn T C 1: 171,910,159 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Notch2 C T 3: 98,053,853 (GRCm39) T2172I possibly damaging Het
Obscn T A 11: 59,024,772 (GRCm39) K423* probably null Het
Or51l14 A G 7: 103,100,835 (GRCm39) N97S probably benign Het
Or5d37 A C 2: 87,923,972 (GRCm39) S103A probably benign Het
Or5k1 T C 16: 58,617,684 (GRCm39) N175S probably benign Het
Or9a2 A T 6: 41,749,198 (GRCm39) C12S probably benign Het
Ostm1 T A 10: 42,572,343 (GRCm39) M242K probably damaging Het
Oxnad1 T A 14: 31,821,437 (GRCm39) I154N probably damaging Het
Pcdhb10 T A 18: 37,546,152 (GRCm39) D409E probably damaging Het
Pdcd11 T C 19: 47,113,476 (GRCm39) probably benign Het
Peak1 C A 9: 56,165,916 (GRCm39) V671L probably benign Het
Pex1 G A 5: 3,656,444 (GRCm39) probably null Het
Plk4 T A 3: 40,760,075 (GRCm39) F324I probably benign Het
Poglut2 C T 1: 44,149,917 (GRCm39) W424* probably null Het
Ppfibp1 C A 6: 146,920,529 (GRCm39) probably null Het
Prcp T A 7: 92,568,290 (GRCm39) W276R probably damaging Het
Prss52 T A 14: 64,351,093 (GRCm39) Y293N probably damaging Het
Prune2 A G 19: 16,984,156 (GRCm39) probably benign Het
Ptprk G C 10: 28,461,943 (GRCm39) A84P probably damaging Het
Ptprk C T 10: 28,461,944 (GRCm39) A84V probably damaging Het
Rock1 A G 18: 10,079,120 (GRCm39) L1116P possibly damaging Het
Sdha A T 13: 74,475,452 (GRCm39) F526Y probably benign Het
Sema4b T C 7: 79,869,954 (GRCm39) F414S probably damaging Het
Serpina12 T C 12: 104,001,960 (GRCm39) D252G probably damaging Het
Siglecg C T 7: 43,060,550 (GRCm39) A310V probably benign Het
Slc30a8 A G 15: 52,188,966 (GRCm39) I194V probably benign Het
Spred3 A G 7: 28,862,400 (GRCm39) S148P probably damaging Het
Taf9b A G X: 105,262,014 (GRCm39) S58P probably damaging Het
Tgm4 A T 9: 122,891,484 (GRCm39) Y109F probably benign Het
Tmprss11c T G 5: 86,385,468 (GRCm39) probably benign Het
Tmtc3 A T 10: 100,307,266 (GRCm39) V246D probably damaging Het
Tnip1 C T 11: 54,828,820 (GRCm39) G116R probably damaging Het
Tpr A G 1: 150,303,992 (GRCm39) E1455G possibly damaging Het
Ttc3 T A 16: 94,232,863 (GRCm39) L986* probably null Het
Txndc15 A G 13: 55,872,436 (GRCm39) I275V possibly damaging Het
Ugt2b1 T A 5: 87,074,315 (GRCm39) I15L probably benign Het
Upf2 T C 2: 5,962,445 (GRCm39) V49A possibly damaging Het
Vmn1r117 G A 7: 20,617,371 (GRCm39) P226S probably benign Het
Vmn2r28 A T 7: 5,493,456 (GRCm39) H163Q probably benign Het
Vstm2a T A 11: 16,213,240 (GRCm39) S208R probably damaging Het
Zfp346 T A 13: 55,260,910 (GRCm39) C79* probably null Het
Zfp628 A T 7: 4,924,615 (GRCm39) T946S probably benign Het
Other mutations in Prr14l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Prr14l APN 5 32,988,020 (GRCm39) missense probably benign 0.04
IGL00331:Prr14l APN 5 32,988,410 (GRCm39) missense probably benign 0.02
IGL01571:Prr14l APN 5 32,986,150 (GRCm39) missense probably benign 0.01
IGL01795:Prr14l APN 5 32,989,189 (GRCm39) unclassified probably benign
IGL01929:Prr14l APN 5 32,985,587 (GRCm39) missense probably benign 0.09
IGL01959:Prr14l APN 5 32,987,549 (GRCm39) missense possibly damaging 0.84
IGL02139:Prr14l APN 5 32,984,876 (GRCm39) missense probably damaging 1.00
IGL02321:Prr14l APN 5 32,985,151 (GRCm39) missense probably benign 0.10
IGL02508:Prr14l APN 5 32,988,286 (GRCm39) missense probably benign 0.01
IGL02551:Prr14l APN 5 32,988,828 (GRCm39) missense probably damaging 1.00
IGL02585:Prr14l APN 5 32,986,828 (GRCm39) missense possibly damaging 0.59
IGL02614:Prr14l APN 5 32,987,887 (GRCm39) missense possibly damaging 0.76
IGL02808:Prr14l APN 5 32,985,526 (GRCm39) missense possibly damaging 0.94
IGL02836:Prr14l APN 5 32,988,440 (GRCm39) missense probably benign 0.42
IGL02952:Prr14l APN 5 32,993,014 (GRCm39) missense unknown
IGL03034:Prr14l APN 5 32,984,782 (GRCm39) missense possibly damaging 0.48
Polymer UTSW 5 32,984,489 (GRCm39) missense probably benign 0.34
Postwar UTSW 5 32,988,028 (GRCm39) missense probably benign 0.17
H8562:Prr14l UTSW 5 32,951,072 (GRCm39) missense probably damaging 1.00
R0086:Prr14l UTSW 5 32,988,903 (GRCm39) unclassified probably benign
R0149:Prr14l UTSW 5 32,950,985 (GRCm39) missense probably damaging 1.00
R0333:Prr14l UTSW 5 32,985,337 (GRCm39) missense probably damaging 1.00
R0361:Prr14l UTSW 5 32,950,985 (GRCm39) missense probably damaging 1.00
R0416:Prr14l UTSW 5 32,986,061 (GRCm39) missense probably benign 0.25
R0511:Prr14l UTSW 5 33,001,560 (GRCm39) intron probably benign
R0639:Prr14l UTSW 5 32,986,259 (GRCm39) missense probably benign 0.02
R0673:Prr14l UTSW 5 32,986,259 (GRCm39) missense probably benign 0.02
R0743:Prr14l UTSW 5 32,988,538 (GRCm39) missense possibly damaging 0.55
R0792:Prr14l UTSW 5 32,985,767 (GRCm39) missense probably damaging 1.00
R1006:Prr14l UTSW 5 32,986,826 (GRCm39) missense probably benign 0.00
R1342:Prr14l UTSW 5 32,987,604 (GRCm39) missense probably damaging 1.00
R1433:Prr14l UTSW 5 32,986,177 (GRCm39) missense probably damaging 1.00
R1527:Prr14l UTSW 5 32,985,293 (GRCm39) missense possibly damaging 0.75
R1704:Prr14l UTSW 5 32,987,626 (GRCm39) missense probably benign 0.01
R1967:Prr14l UTSW 5 33,001,813 (GRCm39) intron probably benign
R2129:Prr14l UTSW 5 32,989,172 (GRCm39) unclassified probably benign
R2150:Prr14l UTSW 5 32,988,046 (GRCm39) missense probably benign 0.14
R2318:Prr14l UTSW 5 32,987,422 (GRCm39) missense probably benign 0.04
R2915:Prr14l UTSW 5 32,987,112 (GRCm39) missense probably benign 0.04
R3551:Prr14l UTSW 5 32,985,963 (GRCm39) splice site probably null
R3820:Prr14l UTSW 5 32,986,328 (GRCm39) missense probably damaging 0.99
R3852:Prr14l UTSW 5 32,987,689 (GRCm39) missense probably damaging 1.00
R4126:Prr14l UTSW 5 32,985,347 (GRCm39) missense probably damaging 0.97
R4345:Prr14l UTSW 5 32,985,920 (GRCm39) missense probably damaging 1.00
R4388:Prr14l UTSW 5 32,986,598 (GRCm39) missense probably damaging 1.00
R4575:Prr14l UTSW 5 32,950,988 (GRCm39) missense probably damaging 1.00
R4596:Prr14l UTSW 5 32,986,652 (GRCm39) missense probably benign 0.01
R4690:Prr14l UTSW 5 33,001,500 (GRCm39) intron probably benign
R4824:Prr14l UTSW 5 33,001,743 (GRCm39) intron probably benign
R4868:Prr14l UTSW 5 32,987,281 (GRCm39) missense probably benign 0.04
R4869:Prr14l UTSW 5 32,986,177 (GRCm39) missense probably damaging 1.00
R5201:Prr14l UTSW 5 32,987,591 (GRCm39) missense possibly damaging 0.52
R5328:Prr14l UTSW 5 32,987,365 (GRCm39) missense probably benign 0.00
R5410:Prr14l UTSW 5 32,985,121 (GRCm39) missense probably damaging 0.98
R5476:Prr14l UTSW 5 33,001,482 (GRCm39) intron probably benign
R5623:Prr14l UTSW 5 33,001,852 (GRCm39) intron probably benign
R5730:Prr14l UTSW 5 32,950,947 (GRCm39) missense probably damaging 1.00
R5988:Prr14l UTSW 5 32,988,195 (GRCm39) missense probably damaging 0.98
R6261:Prr14l UTSW 5 32,986,748 (GRCm39) missense possibly damaging 0.46
R6283:Prr14l UTSW 5 32,987,608 (GRCm39) missense probably benign 0.14
R6307:Prr14l UTSW 5 32,984,869 (GRCm39) missense probably damaging 0.97
R6825:Prr14l UTSW 5 32,985,892 (GRCm39) missense possibly damaging 0.86
R6862:Prr14l UTSW 5 32,985,103 (GRCm39) missense probably damaging 1.00
R6880:Prr14l UTSW 5 32,988,211 (GRCm39) missense probably benign 0.01
R6931:Prr14l UTSW 5 32,988,035 (GRCm39) missense probably damaging 0.98
R7101:Prr14l UTSW 5 32,986,771 (GRCm39) missense probably damaging 1.00
R7164:Prr14l UTSW 5 32,986,510 (GRCm39) missense probably damaging 1.00
R7203:Prr14l UTSW 5 32,984,489 (GRCm39) missense probably benign 0.34
R7211:Prr14l UTSW 5 32,987,431 (GRCm39) missense probably damaging 0.98
R7305:Prr14l UTSW 5 32,988,445 (GRCm39) missense probably benign 0.14
R7346:Prr14l UTSW 5 32,988,028 (GRCm39) missense probably benign 0.17
R7395:Prr14l UTSW 5 32,985,982 (GRCm39) missense probably benign 0.00
R7624:Prr14l UTSW 5 32,986,967 (GRCm39) missense possibly damaging 0.54
R7649:Prr14l UTSW 5 32,985,589 (GRCm39) missense probably benign 0.18
R7753:Prr14l UTSW 5 32,984,597 (GRCm39) missense probably damaging 1.00
R7828:Prr14l UTSW 5 33,001,735 (GRCm39) intron probably benign
R7898:Prr14l UTSW 5 32,987,310 (GRCm39) missense probably benign 0.04
R8071:Prr14l UTSW 5 32,988,508 (GRCm39) missense probably benign 0.02
R9052:Prr14l UTSW 5 32,987,478 (GRCm39) nonsense probably null
R9136:Prr14l UTSW 5 32,986,080 (GRCm39) missense
R9682:Prr14l UTSW 5 32,988,023 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGACTTTACTGCCTGAGCTGACTG -3'
(R):5'- AGAGCACCCTCTTGGAGAGTGAAC -3'

Sequencing Primer
(F):5'- CTGAGCTGACTGTCAGATCC -3'
(R):5'- CTCTTGGAGAGTGAACCTGCTG -3'
Posted On 2013-05-23