Incidental Mutation 'R1670:Pnisr'
ID 187534
Institutional Source Beutler Lab
Gene Symbol Pnisr
Ensembl Gene ENSMUSG00000028248
Gene Name PNN interacting serine/arginine-rich
Synonyms Sfrs18, 5730406M06Rik
MMRRC Submission 039706-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R1670 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 21847583-21876475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21865893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 294 (D294G)
Ref Sequence ENSEMBL: ENSMUSP00000139324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029911] [ENSMUST00000098238] [ENSMUST00000108229] [ENSMUST00000185001]
AlphaFold A2AJT4
Predicted Effect probably damaging
Transcript: ENSMUST00000029911
AA Change: D294G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: D294G

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 probably damaging
Transcript: ENSMUST00000098238
AA Change: D294G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: D294G

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 damaging
Transcript: ENSMUST00000108229
AA Change: D294G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248
AA Change: D294G

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: ENSMUST00000150368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150927
Predicted Effect probably damaging
Transcript: ENSMUST00000185001
AA Change: D294G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248
AA Change: D294G

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Atr T A 9: 95,743,509 (GRCm39) N49K probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnaaf9 G A 2: 130,554,299 (GRCm39) P187S probably damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Ndnf A G 6: 65,680,054 (GRCm39) D111G probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or2t48 A T 11: 58,420,237 (GRCm39) S192T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ptprn2 A C 12: 116,685,792 (GRCm39) T84P possibly damaging Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V 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
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
R5227:Pnisr UTSW 4 21,874,587 (GRCm39) unclassified probably benign
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'- GCAGATGCTCTACTCTCAGCAATCCC -3'
(R):5'- TGCACATGCTTTATCTAGCACGTCTAC -3'

Sequencing Primer
(F):5'- ctgaaaccctctctgtgacc -3'
(R):5'- TCTAGCACGTCTACATCTGAAG -3'
Posted On 2014-05-09