Incidental Mutation 'R8939:Pcnx3'
ID 680878
Institutional Source Beutler Lab
Gene Symbol Pcnx3
Ensembl Gene ENSMUSG00000054874
Gene Name pecanex homolog 3
Synonyms Pcnxl3
MMRRC Submission 068712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8939 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5714663-5738936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5730347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 102 (L102P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]
AlphaFold Q8VI59
Predicted Effect possibly damaging
Transcript: ENSMUST00000068169
AA Change: L404P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: L404P

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 370 376 N/A INTRINSIC
transmembrane domain 385 407 N/A INTRINSIC
transmembrane domain 411 428 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
transmembrane domain 538 560 N/A INTRINSIC
transmembrane domain 573 592 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
transmembrane domain 669 691 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
Pfam:Pecanex_C 1159 1389 7.5e-124 PFAM
low complexity region 1462 1479 N/A INTRINSIC
low complexity region 1481 1510 N/A INTRINSIC
low complexity region 1525 1538 N/A INTRINSIC
low complexity region 1558 1569 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113615
AA Change: L812P

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: L812P

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 438 459 N/A INTRINSIC
low complexity region 778 784 N/A INTRINSIC
transmembrane domain 793 815 N/A INTRINSIC
transmembrane domain 819 836 N/A INTRINSIC
transmembrane domain 849 871 N/A INTRINSIC
transmembrane domain 881 900 N/A INTRINSIC
transmembrane domain 909 931 N/A INTRINSIC
transmembrane domain 946 968 N/A INTRINSIC
transmembrane domain 981 1000 N/A INTRINSIC
transmembrane domain 1053 1075 N/A INTRINSIC
transmembrane domain 1077 1099 N/A INTRINSIC
low complexity region 1419 1433 N/A INTRINSIC
Pfam:Pecanex_C 1570 1796 5.9e-116 PFAM
low complexity region 1870 1887 N/A INTRINSIC
low complexity region 1889 1918 N/A INTRINSIC
low complexity region 1933 1946 N/A INTRINSIC
low complexity region 1966 1977 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127876
AA Change: L102P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123696
Gene: ENSMUSG00000054874
AA Change: L102P

DomainStartEndE-ValueType
low complexity region 69 75 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
transmembrane domain 110 127 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 172 191 N/A INTRINSIC
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137313
SMART Domains Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 79 98 N/A INTRINSIC
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141577
AA Change: L138P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116451
Gene: ENSMUSG00000054874
AA Change: L138P

DomainStartEndE-ValueType
low complexity region 104 110 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
transmembrane domain 145 162 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
transmembrane domain 207 224 N/A INTRINSIC
transmembrane domain 229 251 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145270
AA Change: L232P

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: L232P

DomainStartEndE-ValueType
low complexity region 199 205 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
transmembrane domain 240 257 N/A INTRINSIC
transmembrane domain 270 292 N/A INTRINSIC
transmembrane domain 302 321 N/A INTRINSIC
transmembrane domain 330 352 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
transmembrane domain 402 421 N/A INTRINSIC
transmembrane domain 474 496 N/A INTRINSIC
transmembrane domain 498 520 N/A INTRINSIC
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,225,162 (GRCm39) V12A probably benign Het
Abcc12 A G 8: 87,243,947 (GRCm39) Y1069H probably damaging Het
Abcc9 T C 6: 142,624,977 (GRCm39) T473A probably damaging Het
Acsm1 A T 7: 119,239,868 (GRCm39) T271S probably benign Het
Adh6b T C 3: 138,055,397 (GRCm39) I49T probably benign Het
Aff4 A T 11: 53,263,231 (GRCm39) T84S probably benign Het
Angptl7 G A 4: 148,580,956 (GRCm39) R280* probably null Het
Bhlhe23 T A 2: 180,418,099 (GRCm39) K146N probably damaging Het
Cacna1s T C 1: 136,014,544 (GRCm39) probably null Het
Cfap45 C G 1: 172,372,834 (GRCm39) R510G probably damaging Het
Chl1 A G 6: 103,642,868 (GRCm39) Y202C probably damaging Het
Chrna6 T A 8: 27,896,870 (GRCm39) T336S probably benign Het
Clpx A G 9: 65,231,519 (GRCm39) K535E probably benign Het
Crybg3 T C 16: 59,376,512 (GRCm39) M1581V probably benign Het
Ddx4 A T 13: 112,758,823 (GRCm39) I246K probably benign Het
F7 G T 8: 13,078,724 (GRCm39) G52C probably damaging Het
Fam186b T C 15: 99,177,223 (GRCm39) Q701R probably benign Het
Fign T A 2: 63,809,456 (GRCm39) M605L probably benign Het
Fpr2 T C 17: 18,113,883 (GRCm39) F293S probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gria2 A T 3: 80,618,170 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gsto2 T C 19: 47,873,203 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,299 (GRCm39) W231R probably damaging Het
Igflr1 CAGAG CAG 7: 30,266,888 (GRCm39) probably null Het
Ighv1-80 C T 12: 115,876,113 (GRCm39) G68R probably damaging Het
Il10ra A G 9: 45,177,802 (GRCm39) V69A unknown Het
Klhdc1 C T 12: 69,300,537 (GRCm39) A159V probably damaging Het
Krtap4-6 A G 11: 99,556,229 (GRCm39) I166T unknown Het
Lce1h A T 3: 92,670,976 (GRCm39) C59S unknown Het
Magi3 T C 3: 103,996,748 (GRCm39) probably benign Het
Map3k1 G T 13: 111,892,837 (GRCm39) S806* probably null Het
Map3k6 T A 4: 132,979,954 (GRCm39) probably benign Het
Mgam G A 6: 40,740,137 (GRCm39) probably null Het
Mtx1 A G 3: 89,120,033 (GRCm39) V207A probably damaging Het
Muc5ac A T 7: 141,347,091 (GRCm39) N356Y probably damaging Het
Myo16 T C 8: 10,524,679 (GRCm39) F810S probably damaging Het
Nlrx1 A G 9: 44,166,761 (GRCm39) L774P probably damaging Het
Nr1i2 C T 16: 38,086,382 (GRCm39) V28I probably benign Het
Or10h28 A G 17: 33,488,589 (GRCm39) K297R probably damaging Het
Or5b122 A C 19: 13,562,860 (GRCm39) N64T probably damaging Het
Pcmtd2 T C 2: 181,496,863 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,571,319 (GRCm39) E114G possibly damaging Het
Ppp4r1 T C 17: 66,110,926 (GRCm39) V70A probably damaging Het
Psd2 G A 18: 36,121,292 (GRCm39) V421M probably damaging Het
Qng1 C T 13: 58,532,875 (GRCm39) A32T probably damaging Het
Rbak C T 5: 143,160,025 (GRCm39) E343K possibly damaging Het
Rhbdf1 G A 11: 32,160,093 (GRCm39) A136V probably benign Het
Rusc1 T A 3: 88,995,337 (GRCm39) E231D probably benign Het
Rxfp1 T C 3: 79,552,231 (GRCm39) E690G probably damaging Het
Sdr9c7 A G 10: 127,734,776 (GRCm39) E88G probably benign Het
Sec23b T C 2: 144,411,137 (GRCm39) probably null Het
Sgcb A T 5: 73,801,661 (GRCm39) I68N probably damaging Het
Sh3pxd2b T C 11: 32,364,433 (GRCm39) probably benign Het
Slc25a48 C T 13: 56,611,519 (GRCm39) P209S probably damaging Het
Slc9a3 C A 13: 74,311,895 (GRCm39) H614Q possibly damaging Het
Slurp1 G A 15: 74,598,763 (GRCm39) S76L probably damaging Het
Spen T C 4: 141,202,969 (GRCm39) E1886G possibly damaging Het
Sqor C T 2: 122,649,549 (GRCm39) P151S possibly damaging Het
Sstr4 C A 2: 148,238,228 (GRCm39) L280M probably damaging Het
Stard10 A G 7: 100,991,847 (GRCm39) Y117C probably damaging Het
Stard13 A T 5: 150,968,574 (GRCm39) probably null Het
Stim2 G T 5: 54,262,673 (GRCm39) R305L possibly damaging Het
Syt14 G A 1: 192,612,896 (GRCm39) R635C probably damaging Het
Tmcc3 A T 10: 94,381,483 (GRCm39) probably benign Het
Ttn T C 2: 76,575,695 (GRCm39) N23320S possibly damaging Het
Ubqln4 A G 3: 88,473,023 (GRCm39) T493A probably benign Het
Ugt2b34 A G 5: 87,039,158 (GRCm39) L501P probably damaging Het
Umod T C 7: 119,068,700 (GRCm39) I449V probably damaging Het
Vmn2r51 C A 7: 9,833,953 (GRCm39) D362Y possibly damaging Het
Xirp2 A C 2: 67,346,488 (GRCm39) T2910P probably benign Het
Zscan20 A G 4: 128,498,315 (GRCm39) S28P probably benign Het
Other mutations in Pcnx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Pcnx3 APN 19 5,717,287 (GRCm39) unclassified probably benign
IGL01667:Pcnx3 APN 19 5,736,658 (GRCm39) missense probably benign 0.03
IGL01704:Pcnx3 APN 19 5,717,504 (GRCm39) missense probably damaging 1.00
IGL01752:Pcnx3 APN 19 5,715,365 (GRCm39) nonsense probably null
IGL01791:Pcnx3 APN 19 5,723,295 (GRCm39) missense probably benign 0.39
IGL01937:Pcnx3 APN 19 5,727,691 (GRCm39) missense probably benign
IGL01987:Pcnx3 APN 19 5,727,507 (GRCm39) missense probably damaging 1.00
IGL02073:Pcnx3 APN 19 5,729,414 (GRCm39) missense probably damaging 0.99
IGL02417:Pcnx3 APN 19 5,736,509 (GRCm39) missense possibly damaging 0.92
IGL03143:Pcnx3 APN 19 5,735,423 (GRCm39) missense probably damaging 1.00
buns UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
Pastries UTSW 19 5,733,367 (GRCm39) nonsense probably null
pie UTSW 19 5,717,186 (GRCm39) missense possibly damaging 0.81
R7096_pcnx3_526 UTSW 19 5,722,643 (GRCm39) missense probably damaging 1.00
swirls UTSW 19 5,722,543 (GRCm39) missense probably damaging 1.00
tip UTSW 19 5,733,808 (GRCm39) splice site probably benign
PIT4453001:Pcnx3 UTSW 19 5,722,784 (GRCm39) critical splice donor site probably null
R0234:Pcnx3 UTSW 19 5,722,646 (GRCm39) missense probably benign 0.12
R0234:Pcnx3 UTSW 19 5,722,646 (GRCm39) missense probably benign 0.12
R0360:Pcnx3 UTSW 19 5,715,611 (GRCm39) missense probably damaging 0.98
R0687:Pcnx3 UTSW 19 5,734,361 (GRCm39) missense probably damaging 1.00
R0718:Pcnx3 UTSW 19 5,727,756 (GRCm39) splice site probably benign
R0840:Pcnx3 UTSW 19 5,735,729 (GRCm39) splice site probably null
R0907:Pcnx3 UTSW 19 5,721,553 (GRCm39) missense possibly damaging 0.95
R1251:Pcnx3 UTSW 19 5,727,210 (GRCm39) missense probably benign 0.03
R1373:Pcnx3 UTSW 19 5,715,544 (GRCm39) missense probably damaging 0.97
R1467:Pcnx3 UTSW 19 5,724,922 (GRCm39) missense possibly damaging 0.63
R1467:Pcnx3 UTSW 19 5,724,922 (GRCm39) missense possibly damaging 0.63
R1572:Pcnx3 UTSW 19 5,735,375 (GRCm39) nonsense probably null
R1602:Pcnx3 UTSW 19 5,722,543 (GRCm39) missense probably damaging 1.00
R1628:Pcnx3 UTSW 19 5,736,093 (GRCm39) missense probably damaging 0.99
R1635:Pcnx3 UTSW 19 5,715,773 (GRCm39) missense probably benign 0.00
R1670:Pcnx3 UTSW 19 5,723,343 (GRCm39) missense probably damaging 1.00
R1889:Pcnx3 UTSW 19 5,722,684 (GRCm39) missense probably damaging 1.00
R1898:Pcnx3 UTSW 19 5,722,615 (GRCm39) missense probably damaging 1.00
R2113:Pcnx3 UTSW 19 5,721,584 (GRCm39) missense possibly damaging 0.93
R2147:Pcnx3 UTSW 19 5,717,633 (GRCm39) missense probably damaging 1.00
R2358:Pcnx3 UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
R2358:Pcnx3 UTSW 19 5,733,367 (GRCm39) nonsense probably null
R2871:Pcnx3 UTSW 19 5,733,774 (GRCm39) intron probably benign
R3699:Pcnx3 UTSW 19 5,722,493 (GRCm39) missense probably damaging 1.00
R3712:Pcnx3 UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
R3712:Pcnx3 UTSW 19 5,733,367 (GRCm39) nonsense probably null
R3798:Pcnx3 UTSW 19 5,728,696 (GRCm39) nonsense probably null
R3856:Pcnx3 UTSW 19 5,728,995 (GRCm39) missense probably benign 0.02
R3953:Pcnx3 UTSW 19 5,733,808 (GRCm39) splice site probably benign
R4613:Pcnx3 UTSW 19 5,717,247 (GRCm39) missense possibly damaging 0.51
R4781:Pcnx3 UTSW 19 5,737,158 (GRCm39) missense probably damaging 0.99
R4816:Pcnx3 UTSW 19 5,738,023 (GRCm39) critical splice donor site probably null
R5338:Pcnx3 UTSW 19 5,722,624 (GRCm39) missense probably damaging 1.00
R5770:Pcnx3 UTSW 19 5,731,607 (GRCm39) intron probably benign
R5950:Pcnx3 UTSW 19 5,717,186 (GRCm39) missense possibly damaging 0.81
R5951:Pcnx3 UTSW 19 5,721,708 (GRCm39) missense possibly damaging 0.71
R5969:Pcnx3 UTSW 19 5,735,563 (GRCm39) missense probably damaging 1.00
R6543:Pcnx3 UTSW 19 5,715,275 (GRCm39) missense probably benign 0.07
R6704:Pcnx3 UTSW 19 5,736,515 (GRCm39) missense possibly damaging 0.74
R7096:Pcnx3 UTSW 19 5,722,643 (GRCm39) missense probably damaging 1.00
R7177:Pcnx3 UTSW 19 5,737,527 (GRCm39) missense probably benign 0.01
R7308:Pcnx3 UTSW 19 5,736,175 (GRCm39) missense possibly damaging 0.52
R7387:Pcnx3 UTSW 19 5,723,364 (GRCm39) missense probably benign 0.33
R7488:Pcnx3 UTSW 19 5,717,487 (GRCm39) missense possibly damaging 0.72
R7670:Pcnx3 UTSW 19 5,727,210 (GRCm39) missense probably benign 0.03
R7831:Pcnx3 UTSW 19 5,735,989 (GRCm39) missense probably damaging 0.96
R7850:Pcnx3 UTSW 19 5,728,960 (GRCm39) missense possibly damaging 0.55
R8120:Pcnx3 UTSW 19 5,717,574 (GRCm39) missense probably benign
R8139:Pcnx3 UTSW 19 5,715,773 (GRCm39) missense probably benign 0.00
R8258:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8259:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8260:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8261:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8262:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8350:Pcnx3 UTSW 19 5,723,254 (GRCm39) missense probably damaging 1.00
R8411:Pcnx3 UTSW 19 5,729,618 (GRCm39) missense possibly damaging 0.90
R8429:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8431:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8443:Pcnx3 UTSW 19 5,736,670 (GRCm39) missense probably benign
R8450:Pcnx3 UTSW 19 5,723,254 (GRCm39) missense probably damaging 1.00
R8494:Pcnx3 UTSW 19 5,725,404 (GRCm39) missense probably damaging 0.99
R8790:Pcnx3 UTSW 19 5,735,206 (GRCm39) missense possibly damaging 0.71
R9065:Pcnx3 UTSW 19 5,717,582 (GRCm39) missense possibly damaging 0.86
R9070:Pcnx3 UTSW 19 5,715,601 (GRCm39) missense probably benign 0.33
X0028:Pcnx3 UTSW 19 5,734,455 (GRCm39) missense probably damaging 1.00
X0053:Pcnx3 UTSW 19 5,736,650 (GRCm39) splice site probably null
Z1176:Pcnx3 UTSW 19 5,737,248 (GRCm39) critical splice acceptor site probably null
Z1177:Pcnx3 UTSW 19 5,721,654 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACAGTTCAGATGGGTGGCTG -3'
(R):5'- AGAGCAAGTGCAACCTGCTC -3'

Sequencing Primer
(F):5'- CAGATGGGTGGCTGGCTAC -3'
(R):5'- GCAAGTGCAACCTGCTCTCTTC -3'
Posted On 2021-08-31