Incidental Mutation 'R5227:Pnisr'
ID 402663
Institutional Source Beutler Lab
Gene Symbol Pnisr
Ensembl Gene ENSMUSG00000028248
Gene Name PNN interacting serine/arginine-rich
Synonyms Sfrs18, 5730406M06Rik
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 21847583-21876475 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 21874587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029911] [ENSMUST00000098238] [ENSMUST00000108229] [ENSMUST00000185001]
AlphaFold A2AJT4
Predicted Effect unknown
Transcript: ENSMUST00000029911
AA Change: K777E
SMART Domains Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: K777E

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
internal_repeat_1 57 86 6.59e-5 PROSPERO
low complexity region 94 117 N/A INTRINSIC
internal_repeat_1 121 149 6.59e-5 PROSPERO
low complexity region 181 194 N/A INTRINSIC
Pfam:PNISR 223 391 1.1e-55 PFAM
low complexity region 429 449 N/A INTRINSIC
low complexity region 494 586 N/A INTRINSIC
low complexity region 592 640 N/A INTRINSIC
low complexity region 664 703 N/A INTRINSIC
low complexity region 746 783 N/A INTRINSIC
low complexity region 789 814 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000098238
AA Change: K777E
SMART Domains Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: K777E

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
internal_repeat_1 57 86 7.37e-5 PROSPERO
low complexity region 94 117 N/A INTRINSIC
internal_repeat_1 121 149 7.37e-5 PROSPERO
low complexity region 181 194 N/A INTRINSIC
coiled coil region 240 276 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
low complexity region 376 415 N/A INTRINSIC
low complexity region 429 449 N/A INTRINSIC
low complexity region 494 586 N/A INTRINSIC
low complexity region 592 640 N/A INTRINSIC
low complexity region 664 703 N/A INTRINSIC
low complexity region 746 783 N/A INTRINSIC
low complexity region 789 805 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108229
SMART Domains Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
low complexity region 94 117 N/A INTRINSIC
low complexity region 181 194 N/A INTRINSIC
coiled coil region 240 276 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148561
Predicted Effect probably benign
Transcript: ENSMUST00000185001
SMART Domains Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248

DomainStartEndE-ValueType
low complexity region 1 27 N/A INTRINSIC
low complexity region 94 117 N/A INTRINSIC
low complexity region 181 194 N/A INTRINSIC
coiled coil region 240 276 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V probably benign Het
Other mutations in Pnisr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Pnisr APN 4 21,870,407 (GRCm39) critical splice donor site probably null
IGL01467:Pnisr APN 4 21,874,650 (GRCm39) unclassified probably benign
IGL01997:Pnisr APN 4 21,871,537 (GRCm39) missense possibly damaging 0.95
IGL02641:Pnisr APN 4 21,860,908 (GRCm39) missense probably benign 0.03
IGL02756:Pnisr APN 4 21,862,175 (GRCm39) missense probably benign 0.07
R0106:Pnisr UTSW 4 21,874,617 (GRCm39) unclassified probably benign
R0106:Pnisr UTSW 4 21,874,617 (GRCm39) unclassified probably benign
R0620:Pnisr UTSW 4 21,874,092 (GRCm39) unclassified probably benign
R0636:Pnisr UTSW 4 21,873,800 (GRCm39) unclassified probably benign
R1179:Pnisr UTSW 4 21,865,937 (GRCm39) missense possibly damaging 0.95
R1388:Pnisr UTSW 4 21,862,041 (GRCm39) missense possibly damaging 0.88
R1450:Pnisr UTSW 4 21,874,912 (GRCm39) critical splice acceptor site probably null
R1609:Pnisr UTSW 4 21,871,440 (GRCm39) nonsense probably null
R1663:Pnisr UTSW 4 21,873,857 (GRCm39) unclassified probably benign
R1670:Pnisr UTSW 4 21,865,893 (GRCm39) missense probably damaging 1.00
R1721:Pnisr UTSW 4 21,874,086 (GRCm39) unclassified probably benign
R1792:Pnisr UTSW 4 21,860,968 (GRCm39) missense possibly damaging 0.94
R1867:Pnisr UTSW 4 21,874,086 (GRCm39) unclassified probably benign
R1868:Pnisr UTSW 4 21,874,086 (GRCm39) unclassified probably benign
R1909:Pnisr UTSW 4 21,869,517 (GRCm39) missense possibly damaging 0.88
R1931:Pnisr UTSW 4 21,873,612 (GRCm39) missense probably benign 0.01
R4843:Pnisr UTSW 4 21,857,400 (GRCm39) intron probably benign
R4917:Pnisr UTSW 4 21,859,330 (GRCm39) intron probably benign
R5076:Pnisr UTSW 4 21,874,990 (GRCm39) unclassified probably benign
R5164:Pnisr UTSW 4 21,859,237 (GRCm39) missense possibly damaging 0.88
R6722:Pnisr UTSW 4 21,859,165 (GRCm39) missense probably damaging 0.99
R7878:Pnisr UTSW 4 21,874,370 (GRCm39) missense unknown
R8512:Pnisr UTSW 4 21,870,372 (GRCm39) nonsense probably null
R9049:Pnisr UTSW 4 21,854,391 (GRCm39) missense unknown
R9680:Pnisr UTSW 4 21,873,586 (GRCm39) missense probably damaging 0.99
Z1088:Pnisr UTSW 4 21,873,684 (GRCm39) missense probably benign
Z1176:Pnisr UTSW 4 21,873,684 (GRCm39) missense probably benign
Z1177:Pnisr UTSW 4 21,873,684 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAGAACTTTCTGTAGGAGTGGTTC -3'
(R):5'- CATTCCTCAGCGCTTACGAC -3'

Sequencing Primer
(F):5'- ACTTTCTGTAGGAGTGGTTCTATATC -3'
(R):5'- CGGGACTTAGACTTGTGT -3'
Posted On 2016-07-22