Incidental Mutation 'R4126:Prr14l'
ID 315395
Institutional Source Beutler Lab
Gene Symbol Prr14l
Ensembl Gene ENSMUSG00000054280
Gene Name proline rich 14-like
Synonyms Prl14l, 6030436E02Rik, C330019G07Rik
MMRRC Submission 041634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R4126 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 32947164-33011600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32985347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 1383 (H1383N)
Ref Sequence ENSEMBL: ENSMUSP00000113259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]
AlphaFold E9Q7C4
Predicted Effect probably damaging
Transcript: ENSMUST00000120129
AA Change: H1383N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: H1383N

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 possibly damaging
Transcript: ENSMUST00000155392
AA Change: H226N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: H226N

DomainStartEndE-ValueType
low complexity region 276 289 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
Meta Mutation Damage Score 0.0818 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 89% (33/37)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T A 8: 60,984,703 (GRCm39) W249R probably benign Het
Ank G A 15: 27,590,459 (GRCm39) V348I probably benign Het
Atad3a A T 4: 155,838,518 (GRCm39) probably benign Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Cdk5rap1 A G 2: 154,210,815 (GRCm39) C108R probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Celsr2 G T 3: 108,309,413 (GRCm39) A1614D possibly damaging Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
E2f8 T C 7: 48,525,355 (GRCm39) I206V probably damaging Het
Glyat G T 19: 12,628,843 (GRCm39) V213F probably benign Het
Gpatch1 C T 7: 34,993,079 (GRCm39) probably null Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Kcnc1 T C 7: 46,047,426 (GRCm39) Y109H probably damaging Het
Kif12 C T 4: 63,084,674 (GRCm39) S548N probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Naalad2 T C 9: 18,258,766 (GRCm39) Y503C probably damaging Het
Nid1 T C 13: 13,650,957 (GRCm39) V498A probably damaging Het
Or8k25 A T 2: 86,243,568 (GRCm39) I276N probably damaging Het
Parp8 C A 13: 117,005,005 (GRCm39) K685N possibly damaging Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Slc6a20a G T 9: 123,489,598 (GRCm39) F148L probably damaging Het
Spag11b T C 8: 19,191,395 (GRCm39) S23P possibly damaging Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Taf11 T C 17: 28,120,746 (GRCm39) K175E possibly damaging Het
Tll1 T C 8: 64,571,048 (GRCm39) R175G possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Usp4 T C 9: 108,237,316 (GRCm39) V128A probably benign Het
Zfp788 T C 7: 41,298,860 (GRCm39) F479L probably damaging Het
Zmiz1 T G 14: 25,657,354 (GRCm39) S877A possibly damaging 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
R0480:Prr14l UTSW 5 32,987,224 (GRCm39) missense probably benign 0.02
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
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'- CATCTAAGTTCCTGGGGCTTTG -3'
(R):5'- ACGGTGCCTTTGTGACTCTG -3'

Sequencing Primer
(F):5'- TTGTCAGTCTGGAGGCAAGGAC -3'
(R):5'- TCTGTCACATCAGCACAGATTG -3'
Posted On 2015-05-14