Incidental Mutation 'R6825:Prr14l'
ID 534091
Institutional Source Beutler Lab
Gene Symbol Prr14l
Ensembl Gene ENSMUSG00000054280
Gene Name proline rich 14-like
Synonyms Prl14l, 6030436E02Rik, C330019G07Rik
MMRRC Submission 044937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R6825 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 32947164-33011600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32985892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1201 (V1201E)
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: V1201E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: V1201E

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
AA Change: V44E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: V44E

DomainStartEndE-ValueType
low complexity region 276 289 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G probably 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
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
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'- ACTCATCTTGGTCAGCCACAG -3'
(R):5'- GATAGCACATACATCAGTGTCAAC -3'

Sequencing Primer
(F):5'- GGTCAGCCACAGGTTGCTTATC -3'
(R):5'- AGGTTTGCAAAACTTGTCACTCTC -3'
Posted On 2018-09-12