Incidental Mutation 'R5582:Prr14'
ID 438507
Institutional Source Beutler Lab
Gene Symbol Prr14
Ensembl Gene ENSMUSG00000030822
Gene Name proline rich 14
Synonyms
MMRRC Submission 043136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5582 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127070189-127075932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127075569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 526 (I526F)
Ref Sequence ENSEMBL: ENSMUSP00000101899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033095] [ENSMUST00000106292] [ENSMUST00000133817] [ENSMUST00000133938] [ENSMUST00000206394] [ENSMUST00000206915] [ENSMUST00000205432]
AlphaFold Q7TPN9
Predicted Effect probably damaging
Transcript: ENSMUST00000033095
AA Change: I526F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033095
Gene: ENSMUSG00000030822
AA Change: I526F

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: I526F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101899
Gene: ENSMUSG00000030822
AA Change: I526F

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 noncoding transcript
Transcript: ENSMUST00000132124
Predicted Effect probably benign
Transcript: ENSMUST00000132819
Predicted Effect probably benign
Transcript: ENSMUST00000133817
Predicted Effect probably benign
Transcript: ENSMUST00000133938
Predicted Effect probably benign
Transcript: ENSMUST00000206394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206118
Predicted Effect probably benign
Transcript: ENSMUST00000206915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147202
Predicted Effect probably benign
Transcript: ENSMUST00000205432
Meta Mutation Damage Score 0.1342 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,586,639 (GRCm39) probably null Het
Agxt2 A G 15: 10,399,245 (GRCm39) D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 (GRCm39) R96L probably damaging Het
Ank2 T C 3: 126,739,954 (GRCm39) probably benign Het
Apob A G 12: 8,060,788 (GRCm39) Y3090C probably damaging Het
Bbx A G 16: 50,043,719 (GRCm39) S647P probably damaging Het
Brinp2 T C 1: 158,076,979 (GRCm39) Y372C probably damaging Het
Btaf1 T C 19: 36,965,573 (GRCm39) probably null Het
Cdk5rap1 T A 2: 154,187,894 (GRCm39) E477D probably benign Het
Cfap65 G A 1: 74,946,677 (GRCm39) probably benign Het
Chdh A G 14: 29,758,816 (GRCm39) Y587C probably damaging Het
Chek2 T C 5: 111,015,901 (GRCm39) V472A probably damaging Het
Clasrp A C 7: 19,320,781 (GRCm39) I326S probably damaging Het
Clic6 A T 16: 92,296,342 (GRCm39) Q334L possibly damaging Het
Cyp2d11 A T 15: 82,276,319 (GRCm39) probably null Het
Entpd7 T C 19: 43,693,433 (GRCm39) I171T probably damaging Het
Fosl1 T C 19: 5,505,295 (GRCm39) probably benign Het
Gm6124 A G 7: 38,869,622 (GRCm39) noncoding transcript Het
H3f3a A T 1: 180,637,650 (GRCm39) probably benign Het
Hs1bp3 AGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGGAGGAGGAGG 12: 8,374,048 (GRCm39) probably benign Het
Idh2 CCAGGGC CC 7: 79,748,087 (GRCm39) probably null Het
Igkv3-7 A G 6: 70,584,990 (GRCm39) Y110C probably damaging Het
Ints9 C T 14: 65,266,345 (GRCm39) T399M possibly damaging Het
Kctd19 G A 8: 106,135,075 (GRCm39) T62M probably damaging Het
Lsmem1 A G 12: 40,230,643 (GRCm39) probably null Het
Obscn T C 11: 58,990,802 (GRCm39) probably null Het
Or11h23 T C 14: 50,948,425 (GRCm39) Y213H probably damaging Het
Or1j12 T C 2: 36,343,233 (GRCm39) I212T probably benign Het
Otop3 T A 11: 115,230,165 (GRCm39) M14K unknown Het
Pibf1 C T 14: 99,374,566 (GRCm39) A335V possibly damaging Het
Pkd1l2 A T 8: 117,767,522 (GRCm39) L1256* probably null Het
Plbd2 T C 5: 120,631,171 (GRCm39) E202G probably benign Het
Ppp1r37 A G 7: 19,266,219 (GRCm39) S516P probably damaging Het
Ppt2 G A 17: 34,836,373 (GRCm39) T229M probably damaging Het
Scel T C 14: 103,820,575 (GRCm39) probably benign Het
Scn9a A T 2: 66,395,373 (GRCm39) probably benign Het
Senp6 T A 9: 79,997,158 (GRCm39) D57E possibly damaging Het
Setd5 T C 6: 113,091,886 (GRCm39) Y217H probably damaging Het
Sgcg T C 14: 61,462,754 (GRCm39) T198A probably damaging Het
Sipa1 C T 19: 5,704,729 (GRCm39) G622D probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Slitrk3 G T 3: 72,957,737 (GRCm39) P345Q probably benign Het
Slx4 T C 16: 3,803,652 (GRCm39) D1054G possibly damaging Het
Sned1 A T 1: 93,210,083 (GRCm39) T898S probably damaging Het
Tg C T 15: 66,565,284 (GRCm39) P1209S probably damaging Het
Tmem63b C A 17: 45,978,689 (GRCm39) V294L probably benign Het
Tnks G A 8: 35,408,015 (GRCm39) R238C probably benign Het
Tsn G A 1: 118,232,944 (GRCm39) T120I probably damaging Het
Txnrd1 T A 10: 82,731,814 (GRCm39) F479I possibly damaging Het
Ubr1 T C 2: 120,745,888 (GRCm39) M849V probably benign Het
Usp13 T C 3: 32,965,738 (GRCm39) S574P probably damaging Het
Vmn1r69 A G 7: 10,314,435 (GRCm39) Y20H probably damaging Het
Zfp1001 T C 2: 150,204,972 (GRCm39) probably benign Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I probably damaging 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
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
R7202:Prr14 UTSW 7 127,075,648 (GRCm39) missense probably damaging 0.99
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'- GGCTTTGCCCATATCTTCAGTG -3'
(R):5'- TCTTGCAGTAGAGACCCCAC -3'

Sequencing Primer
(F):5'- TTCCAGGTTGAATAAGAAGGAGTTC -3'
(R):5'- GTAGAGACCCCACATCCTGG -3'
Posted On 2016-10-26