Incidental Mutation 'IGL01959:Prr14l'
ID 182309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr14l
Ensembl Gene ENSMUSG00000054280
Gene Name proline rich 14-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01959
Quality Score
Status
Chromosome 5
Chromosomal Location 32789820-32854256 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32830205 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 649 (S649T)
Ref Sequence ENSEMBL: ENSMUSP00000113259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]
AlphaFold E9Q7C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000120129
AA Change: S649T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: S649T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T C 11: 51,091,818 noncoding transcript Het
Aip A G 19: 4,121,397 I13T probably damaging Het
Cacna2d1 C T 5: 16,212,897 P140S probably benign Het
Cald1 A G 6: 34,753,468 D40G probably damaging Het
Cep250 T A 2: 155,983,359 V1052E possibly damaging Het
Chd1 A G 17: 15,742,173 N731D probably damaging Het
Chml C T 1: 175,687,600 V252I probably benign Het
Cog8 T C 8: 107,056,378 Y93C probably damaging Het
Creld1 G A 6: 113,492,833 A399T probably damaging Het
Cyp2a4 T A 7: 26,307,708 V80E probably damaging Het
Cyp2c37 T A 19: 39,995,833 L255* probably null Het
Cyp2d12 C A 15: 82,555,344 probably benign Het
Dimt1 A G 13: 106,953,455 I229V probably benign Het
Dsc1 G A 18: 20,097,225 T341I probably damaging Het
Ercc3 T A 18: 32,257,358 F567I probably damaging Het
Espl1 C A 15: 102,305,662 probably benign Het
Fcrls T C 3: 87,259,632 D18G probably damaging Het
Fnip1 T A 11: 54,490,912 S296R possibly damaging Het
Fzd5 C A 1: 64,735,946 A219S possibly damaging Het
Gbp7 A G 3: 142,541,347 probably benign Het
Gm3298 T C 14: 5,018,731 L162S probably damaging Het
Hspa1l A G 17: 34,977,135 E50G probably damaging Het
Ipo9 T C 1: 135,420,355 probably null Het
Kazn A G 4: 142,150,884 L185P probably damaging Het
Kcnh8 T C 17: 52,834,607 S293P probably damaging Het
Lrp1b T C 2: 41,312,527 T1191A probably damaging Het
Mnat1 A G 12: 73,181,931 probably benign Het
Msx2 C T 13: 53,468,602 probably benign Het
Ndufs2 T G 1: 171,237,229 I317L probably benign Het
Nms T C 1: 38,941,925 probably benign Het
Oosp3 T A 19: 11,700,922 F87L probably benign Het
Pask A G 1: 93,334,607 V177A probably benign Het
Poldip2 G T 11: 78,512,307 probably benign Het
Slc6a18 T A 13: 73,677,865 N22I probably damaging Het
Smco2 T A 6: 146,861,710 S228T probably benign Het
Speer4a G A 5: 26,035,904 Q197* probably null Het
Speg A G 1: 75,391,090 K641R probably damaging Het
Strip2 G A 6: 29,928,554 V286M probably damaging Het
Tnfrsf22 C T 7: 143,643,275 probably null Het
Tnpo3 A G 6: 29,589,020 probably benign Het
Top2b T A 14: 16,422,695 N1377K probably benign Het
Trmt1 T A 8: 84,691,376 probably null Het
Trpm1 A G 7: 64,208,975 M266V possibly damaging Het
Vmn1r199 A G 13: 22,383,120 T195A probably benign Het
Vmn2r10 A G 5: 108,997,705 V512A probably benign Het
Zfp777 A G 6: 48,044,341 F116L probably benign Het
Zp3r T A 1: 130,591,451 K253* probably null Het
Other mutations in Prr14l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Prr14l APN 5 32830676 missense probably benign 0.04
IGL00331:Prr14l APN 5 32831066 missense probably benign 0.02
IGL01571:Prr14l APN 5 32828806 missense probably benign 0.01
IGL01795:Prr14l APN 5 32831845 unclassified probably benign
IGL01929:Prr14l APN 5 32828243 missense probably benign 0.09
IGL02139:Prr14l APN 5 32827532 missense probably damaging 1.00
IGL02321:Prr14l APN 5 32827807 missense probably benign 0.10
IGL02508:Prr14l APN 5 32830942 missense probably benign 0.01
IGL02551:Prr14l APN 5 32831484 missense probably damaging 1.00
IGL02585:Prr14l APN 5 32829484 missense possibly damaging 0.59
IGL02614:Prr14l APN 5 32830543 missense possibly damaging 0.76
IGL02808:Prr14l APN 5 32828182 missense possibly damaging 0.94
IGL02836:Prr14l APN 5 32831096 missense probably benign 0.42
IGL02952:Prr14l APN 5 32835670 missense unknown
IGL03034:Prr14l APN 5 32827438 missense possibly damaging 0.48
Polymer UTSW 5 32827145 missense probably benign 0.34
Postwar UTSW 5 32830684 missense probably benign 0.17
H8562:Prr14l UTSW 5 32793728 missense probably damaging 1.00
R0086:Prr14l UTSW 5 32831559 unclassified probably benign
R0149:Prr14l UTSW 5 32793641 missense probably damaging 1.00
R0333:Prr14l UTSW 5 32827993 missense probably damaging 1.00
R0361:Prr14l UTSW 5 32793641 missense probably damaging 1.00
R0416:Prr14l UTSW 5 32828717 missense probably benign 0.25
R0480:Prr14l UTSW 5 32829880 missense probably benign 0.02
R0511:Prr14l UTSW 5 32844216 intron probably benign
R0639:Prr14l UTSW 5 32828915 missense probably benign 0.02
R0673:Prr14l UTSW 5 32828915 missense probably benign 0.02
R0743:Prr14l UTSW 5 32831194 missense possibly damaging 0.55
R0792:Prr14l UTSW 5 32828423 missense probably damaging 1.00
R1006:Prr14l UTSW 5 32829482 missense probably benign 0.00
R1342:Prr14l UTSW 5 32830260 missense probably damaging 1.00
R1433:Prr14l UTSW 5 32828833 missense probably damaging 1.00
R1527:Prr14l UTSW 5 32827949 missense possibly damaging 0.75
R1704:Prr14l UTSW 5 32830282 missense probably benign 0.01
R1967:Prr14l UTSW 5 32844469 intron probably benign
R2129:Prr14l UTSW 5 32831828 unclassified probably benign
R2150:Prr14l UTSW 5 32830702 missense probably benign 0.14
R2318:Prr14l UTSW 5 32830078 missense probably benign 0.04
R2915:Prr14l UTSW 5 32829768 missense probably benign 0.04
R3551:Prr14l UTSW 5 32828619 splice site probably null
R3820:Prr14l UTSW 5 32828984 missense probably damaging 0.99
R3852:Prr14l UTSW 5 32830345 missense probably damaging 1.00
R4126:Prr14l UTSW 5 32828003 missense probably damaging 0.97
R4345:Prr14l UTSW 5 32828576 missense probably damaging 1.00
R4388:Prr14l UTSW 5 32829254 missense probably damaging 1.00
R4575:Prr14l UTSW 5 32793644 missense probably damaging 1.00
R4596:Prr14l UTSW 5 32829308 missense probably benign 0.01
R4690:Prr14l UTSW 5 32844156 intron probably benign
R4824:Prr14l UTSW 5 32844399 intron probably benign
R4868:Prr14l UTSW 5 32829937 missense probably benign 0.04
R4869:Prr14l UTSW 5 32828833 missense probably damaging 1.00
R5201:Prr14l UTSW 5 32830247 missense possibly damaging 0.52
R5328:Prr14l UTSW 5 32830021 missense probably benign 0.00
R5410:Prr14l UTSW 5 32827777 missense probably damaging 0.98
R5476:Prr14l UTSW 5 32844138 intron probably benign
R5623:Prr14l UTSW 5 32844508 intron probably benign
R5730:Prr14l UTSW 5 32793603 missense probably damaging 1.00
R5988:Prr14l UTSW 5 32830851 missense probably damaging 0.98
R6261:Prr14l UTSW 5 32829404 missense possibly damaging 0.46
R6283:Prr14l UTSW 5 32830264 missense probably benign 0.14
R6307:Prr14l UTSW 5 32827525 missense probably damaging 0.97
R6825:Prr14l UTSW 5 32828548 missense possibly damaging 0.86
R6862:Prr14l UTSW 5 32827759 missense probably damaging 1.00
R6880:Prr14l UTSW 5 32830867 missense probably benign 0.01
R6931:Prr14l UTSW 5 32830691 missense probably damaging 0.98
R7101:Prr14l UTSW 5 32829427 missense probably damaging 1.00
R7164:Prr14l UTSW 5 32829166 missense probably damaging 1.00
R7203:Prr14l UTSW 5 32827145 missense probably benign 0.34
R7211:Prr14l UTSW 5 32830087 missense probably damaging 0.98
R7305:Prr14l UTSW 5 32831101 missense probably benign 0.14
R7346:Prr14l UTSW 5 32830684 missense probably benign 0.17
R7395:Prr14l UTSW 5 32828638 missense probably benign 0.00
R7624:Prr14l UTSW 5 32829623 missense possibly damaging 0.54
R7649:Prr14l UTSW 5 32828245 missense probably benign 0.18
R7753:Prr14l UTSW 5 32827253 missense probably damaging 1.00
R7828:Prr14l UTSW 5 32844391 intron probably benign
R7898:Prr14l UTSW 5 32829966 missense probably benign 0.04
R8071:Prr14l UTSW 5 32831164 missense probably benign 0.02
R9052:Prr14l UTSW 5 32830134 nonsense probably null
R9136:Prr14l UTSW 5 32828736 missense
Posted On 2014-05-07