Incidental Mutation 'R7164:Prr14l'
ID 557792
Institutional Source Beutler Lab
Gene Symbol Prr14l
Ensembl Gene ENSMUSG00000054280
Gene Name proline rich 14-like
Synonyms Prl14l, 6030436E02Rik, C330019G07Rik
MMRRC Submission 045331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R7164 (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 32986510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 995 (V995D)
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: V995D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: V995D

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 G A 13: 12,293,847 (GRCm39) H558Y probably damaging Het
Ajm1 T A 2: 25,468,579 (GRCm39) H444L possibly damaging Het
Akap9 G C 5: 4,110,364 (GRCm39) E3022D probably damaging Het
Anapc2 C T 2: 25,175,011 (GRCm39) R710C probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Carmil3 A G 14: 55,738,739 (GRCm39) E844G probably damaging Het
Cdk17 T G 10: 93,068,343 (GRCm39) S367A probably benign Het
Cfap206 T A 4: 34,719,656 (GRCm39) M253L probably benign Het
Chd3 T G 11: 69,253,132 (GRCm39) K228Q probably damaging Het
Cit T A 5: 116,123,846 (GRCm39) I1503N possibly damaging Het
Csn1s1 A G 5: 87,822,087 (GRCm39) N119S possibly damaging Het
Czib C A 4: 107,752,087 (GRCm39) D155E not run Het
Degs1 A G 1: 182,106,690 (GRCm39) S226P probably damaging Het
Espl1 T C 15: 102,221,638 (GRCm39) W976R probably damaging Het
Fbxl4 C T 4: 22,386,218 (GRCm39) P275L probably benign Het
Flnb A G 14: 7,915,944 (GRCm38) probably null Het
Gnptab T A 10: 88,269,932 (GRCm39) Y878* probably null Het
Gpr89 A T 3: 96,778,714 (GRCm39) M453K probably benign Het
Igsf5 A T 16: 96,174,048 (GRCm39) Q26L possibly damaging Het
Inpp5e T A 2: 26,297,995 (GRCm39) D202V possibly damaging Het
Itga3 C T 11: 94,943,305 (GRCm39) V931M possibly damaging Het
Kcnab3 T C 11: 69,222,184 (GRCm39) probably null Het
Klk4 T C 7: 43,531,122 (GRCm39) I17T possibly damaging Het
Lrrc73 T C 17: 46,567,169 (GRCm39) L206P probably damaging Het
Manba A T 3: 135,248,149 (GRCm39) N346I probably damaging Het
Map4k4 T C 1: 40,013,132 (GRCm39) Y76H possibly damaging Het
Map4k5 T C 12: 69,877,210 (GRCm39) T312A probably benign Het
Masp2 A G 4: 148,694,572 (GRCm39) probably null Het
Mast1 T C 8: 85,661,933 (GRCm39) D63G possibly damaging Het
Mtf2 T A 5: 108,241,235 (GRCm39) S254T possibly damaging Het
Myo16 A T 8: 10,619,585 (GRCm39) T1379S unknown Het
Myo5a A G 9: 75,087,435 (GRCm39) E1097G probably benign Het
Nat1 T C 8: 67,944,329 (GRCm39) V238A possibly damaging Het
Nhlrc2 A G 19: 56,580,931 (GRCm39) D493G probably damaging Het
Or10ak9 C T 4: 118,726,922 (GRCm39) P315S probably benign Het
Or1j21 T C 2: 36,683,709 (GRCm39) S154P probably benign Het
Or5ae2 A G 7: 84,506,251 (GRCm39) I227V possibly damaging Het
Or5b108 A T 19: 13,168,270 (GRCm39) M80L probably benign Het
Or5d20-ps1 T C 2: 87,932,176 (GRCm39) K52E probably damaging Het
Or8g51 A G 9: 38,609,515 (GRCm39) I49T possibly damaging Het
Pcsk5 C T 19: 17,429,349 (GRCm39) C1543Y probably damaging Het
Pde4d A G 13: 109,169,222 (GRCm39) D88G probably benign Het
Pld5 A T 1: 176,041,187 (GRCm39) M1K probably null Het
Prmt6 A G 3: 110,157,680 (GRCm39) M203T probably benign Het
Psg18 T C 7: 18,084,862 (GRCm39) E199G possibly damaging Het
Pth1r A G 9: 110,552,815 (GRCm39) I439T possibly damaging Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Slc44a1 T C 4: 53,528,711 (GRCm39) S154P probably benign Het
Slco1c1 T A 6: 141,487,855 (GRCm39) Y192* probably null Het
Spag16 A G 1: 70,764,025 (GRCm39) H615R possibly damaging Het
Spata31h1 G A 10: 82,122,063 (GRCm39) T3649I probably damaging Het
Tas2r114 G A 6: 131,666,728 (GRCm39) A100V possibly damaging Het
U2af1l4 T C 7: 30,264,544 (GRCm39) S103P probably benign Het
Usp10 T C 8: 120,668,847 (GRCm39) S383P probably damaging Het
Vmn2r113 A G 17: 23,167,137 (GRCm39) R505G probably benign Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Zfp318 T A 17: 46,708,232 (GRCm39) probably null Het
Zfp318 T C 17: 46,716,865 (GRCm39) V999A probably damaging Het
Zfp324 A T 7: 12,702,810 (GRCm39) H58L probably damaging Het
Zfp707 A G 15: 75,846,967 (GRCm39) E339G 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
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
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'- TTGACAGAGTCTTGGCACCC -3'
(R):5'- TGGCATACCACGAGACTATAAG -3'

Sequencing Primer
(F):5'- AGAGTCTTGGCACCCAGGAG -3'
(R):5'- GAAGTACCTCATTGCTTCAAGG -3'
Posted On 2019-06-26