Incidental Mutation 'R0575:Pom121l2'
ID 56195
Institutional Source Beutler Lab
Gene Symbol Pom121l2
Ensembl Gene ENSMUSG00000016982
Gene Name POM121 transmembrane nucleoporin like 2
Synonyms LOC195236
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0575 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 22165364-22172904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22168338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 870 (F870V)
Ref Sequence ENSEMBL: ENSMUSP00000017126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]
AlphaFold Q5SW25
Predicted Effect probably damaging
Transcript: ENSMUST00000017126
AA Change: F870V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: F870V

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 3.5e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
low complexity region 517 526 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117882
SMART Domains Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 2e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Meta Mutation Damage Score 0.3942 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Pom121l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Pom121l2 APN 13 22,166,445 (GRCm39) missense possibly damaging 0.70
IGL02223:Pom121l2 APN 13 22,166,265 (GRCm39) missense probably benign 0.01
R0401:Pom121l2 UTSW 13 22,166,395 (GRCm39) missense probably benign 0.01
R0402:Pom121l2 UTSW 13 22,172,649 (GRCm39) splice site probably benign
R0437:Pom121l2 UTSW 13 22,167,375 (GRCm39) missense possibly damaging 0.72
R0605:Pom121l2 UTSW 13 22,166,206 (GRCm39) missense probably damaging 1.00
R0892:Pom121l2 UTSW 13 22,166,644 (GRCm39) missense possibly damaging 0.49
R0992:Pom121l2 UTSW 13 22,166,929 (GRCm39) missense probably benign 0.01
R1259:Pom121l2 UTSW 13 22,166,297 (GRCm39) nonsense probably null
R1564:Pom121l2 UTSW 13 22,167,523 (GRCm39) missense possibly damaging 0.86
R1603:Pom121l2 UTSW 13 22,167,514 (GRCm39) missense probably damaging 1.00
R1836:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.03
R1970:Pom121l2 UTSW 13 22,167,642 (GRCm39) missense probably damaging 0.98
R2018:Pom121l2 UTSW 13 22,166,904 (GRCm39) missense possibly damaging 0.54
R2180:Pom121l2 UTSW 13 22,166,145 (GRCm39) missense probably benign 0.08
R2277:Pom121l2 UTSW 13 22,168,417 (GRCm39) missense probably benign
R2365:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.20
R3951:Pom121l2 UTSW 13 22,166,298 (GRCm39) missense probably damaging 1.00
R4371:Pom121l2 UTSW 13 22,166,409 (GRCm39) missense probably benign 0.01
R4574:Pom121l2 UTSW 13 22,168,572 (GRCm39) missense probably benign 0.02
R4593:Pom121l2 UTSW 13 22,168,623 (GRCm39) missense probably damaging 1.00
R4983:Pom121l2 UTSW 13 22,167,984 (GRCm39) missense probably benign 0.02
R5320:Pom121l2 UTSW 13 22,166,015 (GRCm39) nonsense probably null
R5661:Pom121l2 UTSW 13 22,168,425 (GRCm39) missense possibly damaging 0.90
R5662:Pom121l2 UTSW 13 22,166,358 (GRCm39) missense probably benign 0.01
R5908:Pom121l2 UTSW 13 22,165,984 (GRCm39) missense probably damaging 0.99
R5980:Pom121l2 UTSW 13 22,167,546 (GRCm39) missense probably damaging 0.96
R6145:Pom121l2 UTSW 13 22,166,472 (GRCm39) nonsense probably null
R6160:Pom121l2 UTSW 13 22,167,838 (GRCm39) missense possibly damaging 0.52
R6327:Pom121l2 UTSW 13 22,166,502 (GRCm39) missense probably damaging 1.00
R6504:Pom121l2 UTSW 13 22,167,631 (GRCm39) missense possibly damaging 0.55
R6745:Pom121l2 UTSW 13 22,167,868 (GRCm39) missense probably benign 0.00
R6750:Pom121l2 UTSW 13 22,166,107 (GRCm39) missense probably damaging 1.00
R6752:Pom121l2 UTSW 13 22,165,939 (GRCm39) missense probably damaging 0.99
R6796:Pom121l2 UTSW 13 22,167,694 (GRCm39) missense probably benign 0.09
R6984:Pom121l2 UTSW 13 22,166,191 (GRCm39) missense probably benign 0.33
R7284:Pom121l2 UTSW 13 22,166,775 (GRCm39) missense probably damaging 1.00
R7287:Pom121l2 UTSW 13 22,168,502 (GRCm39) missense probably benign 0.16
R7568:Pom121l2 UTSW 13 22,166,796 (GRCm39) missense probably benign 0.03
R7624:Pom121l2 UTSW 13 22,167,699 (GRCm39) missense probably damaging 0.97
R7832:Pom121l2 UTSW 13 22,168,048 (GRCm39) missense possibly damaging 0.49
R7956:Pom121l2 UTSW 13 22,167,316 (GRCm39) missense probably damaging 1.00
R8103:Pom121l2 UTSW 13 22,166,544 (GRCm39) missense probably benign 0.00
R8506:Pom121l2 UTSW 13 22,167,789 (GRCm39) missense probably benign 0.04
R9167:Pom121l2 UTSW 13 22,167,160 (GRCm39) missense probably damaging 0.97
R9313:Pom121l2 UTSW 13 22,168,506 (GRCm39) missense probably benign 0.09
R9332:Pom121l2 UTSW 13 22,165,852 (GRCm39) missense probably damaging 1.00
R9463:Pom121l2 UTSW 13 22,168,402 (GRCm39) missense probably benign 0.18
Z1177:Pom121l2 UTSW 13 22,172,656 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGAACCACCAGAGTGTGACCTACAG -3'
(R):5'- CCATTCTTTGCCAGCACTTGATGAC -3'

Sequencing Primer
(F):5'- CCAGAGTGTGACCTACAGTTCAG -3'
(R):5'- CCAGCACTTGATGACGTACTG -3'
Posted On 2013-07-11