Incidental Mutation 'R7202:Prr14'
ID 560379
Institutional Source Beutler Lab
Gene Symbol Prr14
Ensembl Gene ENSMUSG00000030822
Gene Name proline rich 14
Synonyms
MMRRC Submission 045280-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7202 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127070189-127075932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127075648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 552 (R552L)
Ref Sequence ENSEMBL: ENSMUSP00000033095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033095] [ENSMUST00000106292] [ENSMUST00000133817] [ENSMUST00000133938] [ENSMUST00000205432] [ENSMUST00000206394] [ENSMUST00000206915]
AlphaFold Q7TPN9
Predicted Effect probably damaging
Transcript: ENSMUST00000033095
AA Change: R552L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822
AA Change: R552L

DomainStartEndE-ValueType
low complexity region 241 256 N/A INTRINSIC
low complexity region 263 273 N/A INTRINSIC
low complexity region 297 309 N/A INTRINSIC
low complexity region 364 387 N/A INTRINSIC
Pfam:Tantalus 485 545 5.6e-28 PFAM
low complexity region 554 564 N/A INTRINSIC
low complexity region 587 603 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106292
AA Change: R552L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822
AA Change: R552L

DomainStartEndE-ValueType
low complexity region 241 256 N/A INTRINSIC
low complexity region 263 273 N/A INTRINSIC
low complexity region 297 309 N/A INTRINSIC
low complexity region 364 387 N/A INTRINSIC
Pfam:Tantalus 487 544 1.7e-26 PFAM
low complexity region 554 564 N/A INTRINSIC
low complexity region 587 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132819
Predicted Effect probably benign
Transcript: ENSMUST00000133817
Predicted Effect probably benign
Transcript: ENSMUST00000133938
Predicted Effect probably benign
Transcript: ENSMUST00000205432
Predicted Effect probably benign
Transcript: ENSMUST00000206394
Predicted Effect probably damaging
Transcript: ENSMUST00000206915
AA Change: R125L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.1162 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,917,236 (GRCm39) I1467T probably damaging Het
Abtb3 A G 10: 85,223,629 (GRCm39) E146G unknown Het
Adgrf3 T A 5: 30,409,378 (GRCm39) K38* probably null Het
Ahdc1 T A 4: 132,789,198 (GRCm39) C146* probably null Het
Ahnak A T 19: 8,995,163 (GRCm39) K5482N probably damaging Het
Arhgap23 C T 11: 97,342,819 (GRCm39) A367V possibly damaging Het
Arvcf T C 16: 18,223,948 (GRCm39) S960P probably damaging Het
Asb14 C A 14: 26,622,394 (GRCm39) P74Q probably benign Het
Atad5 T C 11: 79,980,601 (GRCm39) V2A probably damaging Het
Baz2a A G 10: 127,954,428 (GRCm39) I691M possibly damaging Het
Brca2 A G 5: 150,455,819 (GRCm39) T187A probably benign Het
Calr4 T A 4: 109,101,254 (GRCm39) N152K possibly damaging Het
Ccnb2 C T 9: 70,318,128 (GRCm39) A215T probably damaging Het
Cdh16 C T 8: 105,340,780 (GRCm39) D140N unknown Het
Ces1g T C 8: 94,029,595 (GRCm39) T546A probably benign Het
Cfap74 G T 4: 155,510,654 (GRCm39) probably null Het
Cfap91 T C 16: 38,155,959 (GRCm39) Y88C probably benign Het
Col5a1 G T 2: 27,842,390 (GRCm39) D422Y unknown Het
Cyp2c66 A T 19: 39,130,348 (GRCm39) Y61F probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah6 A G 6: 73,158,688 (GRCm39) probably null Het
Dop1a T G 9: 86,386,220 (GRCm39) probably null Het
Fam163a A G 1: 155,954,834 (GRCm39) F106L probably damaging Het
Gfy T C 7: 44,827,596 (GRCm39) T167A probably benign Het
Gm6525 A T 3: 84,082,341 (GRCm39) R87S probably benign Het
Gramd1c C A 16: 43,879,584 (GRCm39) A19S possibly damaging Het
Herc2 T C 7: 55,781,034 (GRCm39) V1233A probably damaging Het
Hibch G A 1: 52,892,874 (GRCm39) probably null Het
Ibsp A T 5: 104,450,027 (GRCm39) S9C probably benign Het
Il17ra A G 6: 120,452,572 (GRCm39) I252V probably benign Het
Ino80 A T 2: 119,204,918 (GRCm39) M1536K probably benign Het
Ipo11 A T 13: 107,012,078 (GRCm39) L568Q probably damaging Het
Kcnu1 T G 8: 26,409,609 (GRCm39) probably null Het
Kdm5b T G 1: 134,552,497 (GRCm39) S1158A probably benign Het
Kmt2a T C 9: 44,759,012 (GRCm39) T946A probably benign Het
Kmt2e A T 5: 23,697,292 (GRCm39) probably benign Het
Krba1 G A 6: 48,389,261 (GRCm39) V594M probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lig1 C T 7: 13,025,175 (GRCm39) P227S probably benign Het
Lims2 T A 18: 32,090,017 (GRCm39) D255E probably benign Het
Marchf3 C T 18: 56,909,161 (GRCm39) C208Y probably benign Het
Mei1 A G 15: 81,976,843 (GRCm39) E142G Het
Melk G T 4: 44,351,106 (GRCm39) R549L probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myorg T C 4: 41,498,268 (GRCm39) Y454C probably damaging Het
Nae1 T C 8: 105,250,215 (GRCm39) Y226C possibly damaging Het
Nap1l1 T C 10: 111,326,964 (GRCm39) F175S probably damaging Het
Ndn T C 7: 61,998,709 (GRCm39) L185P probably damaging Het
Ndst3 T A 3: 123,465,388 (GRCm39) I195F possibly damaging Het
Ndufaf1 A T 2: 119,488,907 (GRCm39) S206T probably benign Het
Nek10 C A 14: 14,836,171 (GRCm38) H131N probably benign Het
Obsl1 T A 1: 75,466,360 (GRCm39) D1456V possibly damaging Het
Or10a2 A G 7: 106,673,448 (GRCm39) N138D probably benign Het
Or10ak7 C T 4: 118,791,215 (GRCm39) V277I probably benign Het
Or52s6 T A 7: 103,092,292 (GRCm39) T13S probably benign Het
Otog C T 7: 45,937,474 (GRCm39) L1728F probably damaging Het
Pcx A T 19: 4,652,361 (GRCm39) M150L possibly damaging Het
Pole A G 5: 110,444,973 (GRCm39) D443G possibly damaging Het
Rasgrf1 T G 9: 89,899,125 (GRCm39) S1156A possibly damaging Het
Rfc4 T A 16: 22,946,359 (GRCm39) probably benign Het
Rfx5 G T 3: 94,866,272 (GRCm39) A524S unknown Het
Ryr3 G A 2: 112,596,664 (GRCm39) P2497S probably damaging Het
Scg3 T C 9: 75,590,992 (GRCm39) T6A probably benign Het
Slc26a9 A T 1: 131,690,526 (GRCm39) D510V possibly damaging Het
Stpg3 A G 2: 25,104,586 (GRCm39) F10L probably damaging Het
Tmc5 T A 7: 118,239,179 (GRCm39) H357Q possibly damaging Het
Tmem40 A T 6: 115,707,420 (GRCm39) L253H probably damaging Het
Tmie A G 9: 110,696,632 (GRCm39) V83A probably damaging Het
Uck2 A T 1: 167,054,084 (GRCm39) I218N probably damaging Het
Vtn A G 11: 78,391,626 (GRCm39) D310G possibly damaging Het
Wdr49 A T 3: 75,240,580 (GRCm39) S430T probably benign Het
Wtip A G 7: 33,832,087 (GRCm39) V133A probably benign Het
Zbtb9 T A 17: 27,193,666 (GRCm39) V357E probably damaging Het
Zfp953 G A 13: 67,491,706 (GRCm39) T82M probably benign Het
Other mutations in Prr14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Prr14 APN 7 127,073,819 (GRCm39) missense probably benign 0.01
IGL01614:Prr14 APN 7 127,074,305 (GRCm39) missense probably damaging 1.00
IGL01655:Prr14 APN 7 127,074,939 (GRCm39) missense probably benign 0.00
IGL02273:Prr14 APN 7 127,075,108 (GRCm39) missense probably damaging 1.00
IGL03033:Prr14 APN 7 127,071,135 (GRCm39) missense probably damaging 1.00
R0364:Prr14 UTSW 7 127,073,751 (GRCm39) missense probably benign 0.01
R0376:Prr14 UTSW 7 127,075,815 (GRCm39) missense probably benign 0.33
R0448:Prr14 UTSW 7 127,073,898 (GRCm39) unclassified probably benign
R0555:Prr14 UTSW 7 127,071,267 (GRCm39) unclassified probably benign
R1462:Prr14 UTSW 7 127,073,160 (GRCm39) critical splice donor site probably null
R1462:Prr14 UTSW 7 127,073,160 (GRCm39) critical splice donor site probably null
R1534:Prr14 UTSW 7 127,073,154 (GRCm39) missense probably benign 0.08
R1982:Prr14 UTSW 7 127,074,662 (GRCm39) missense possibly damaging 0.87
R2357:Prr14 UTSW 7 127,074,535 (GRCm39) missense probably benign 0.02
R4729:Prr14 UTSW 7 127,073,868 (GRCm39) missense probably benign 0.00
R5582:Prr14 UTSW 7 127,075,569 (GRCm39) missense probably damaging 1.00
R5757:Prr14 UTSW 7 127,074,725 (GRCm39) missense possibly damaging 0.65
R6497:Prr14 UTSW 7 127,073,750 (GRCm39) missense probably benign 0.03
R6987:Prr14 UTSW 7 127,072,977 (GRCm39) missense possibly damaging 0.94
R7376:Prr14 UTSW 7 127,075,749 (GRCm39) missense probably benign
R7380:Prr14 UTSW 7 127,075,614 (GRCm39) missense probably null 1.00
R7426:Prr14 UTSW 7 127,074,458 (GRCm39) missense probably benign 0.00
R7470:Prr14 UTSW 7 127,074,997 (GRCm39) missense probably null 1.00
R8322:Prr14 UTSW 7 127,072,999 (GRCm39) missense probably benign 0.08
R8780:Prr14 UTSW 7 127,075,410 (GRCm39) missense probably benign 0.33
R9488:Prr14 UTSW 7 127,073,687 (GRCm39) missense possibly damaging 0.63
R9665:Prr14 UTSW 7 127,073,091 (GRCm39) missense probably benign 0.10
R9790:Prr14 UTSW 7 127,071,128 (GRCm39) start codon destroyed probably null 0.99
R9791:Prr14 UTSW 7 127,071,128 (GRCm39) start codon destroyed probably null 0.99
Predicted Primers PCR Primer
(F):5'- AACTTGGAAGGTCTGAGGGC -3'
(R):5'- TCTCCCCTACCTAAAGGACG -3'

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