Incidental Mutation 'IGL01537:Xntrpc'
ID90009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xntrpc
Ensembl Gene ENSMUSG00000070425
Gene NameXndc1-transient receptor potential cation channel, subfamily C, member 2 readthrough
SynonymsXndr-trpc2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.286) question?
Stock #IGL01537
Quality Score
Status
Chromosome7
Chromosomal Location102065713-102096864 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102073194 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000081903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084843] [ENSMUST00000094129] [ENSMUST00000094130] [ENSMUST00000106950] [ENSMUST00000123372] [ENSMUST00000139104] [ENSMUST00000146450]
Predicted Effect probably damaging
Transcript: ENSMUST00000084843
AA Change: E22G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 150 1.4e-54 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
low complexity region 403 415 N/A INTRINSIC
low complexity region 416 428 N/A INTRINSIC
ANK 439 469 1.58e3 SMART
low complexity region 484 496 N/A INTRINSIC
ANK 522 551 1.74e0 SMART
Pfam:TRP_2 557 619 1e-24 PFAM
Pfam:Ion_trans 716 1024 1.7e-24 PFAM
Pfam:PKD_channel 774 1019 2.4e-12 PFAM
low complexity region 1070 1081 N/A INTRINSIC
low complexity region 1093 1104 N/A INTRINSIC
coiled coil region 1122 1162 N/A INTRINSIC
low complexity region 1220 1236 N/A INTRINSIC
low complexity region 1247 1263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094129
AA Change: E22G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091679
Gene: ENSMUSG00000070425
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 1.2e-27 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
low complexity region 403 415 N/A INTRINSIC
low complexity region 416 428 N/A INTRINSIC
ANK 439 469 1.58e3 SMART
low complexity region 484 496 N/A INTRINSIC
ANK 522 551 1.74e0 SMART
Pfam:TRP_2 557 619 2.8e-28 PFAM
transmembrane domain 719 741 N/A INTRINSIC
Pfam:PKD_channel 772 1019 3.8e-12 PFAM
Pfam:Ion_trans 796 1012 3.9e-31 PFAM
low complexity region 1070 1081 N/A INTRINSIC
low complexity region 1093 1104 N/A INTRINSIC
coiled coil region 1122 1162 N/A INTRINSIC
low complexity region 1220 1236 N/A INTRINSIC
low complexity region 1247 1263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094130
AA Change: E22G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091680
Gene: ENSMUSG00000099481
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 5.2e-29 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
internal_repeat_1 324 345 2.69e-6 PROSPERO
low complexity region 346 379 N/A INTRINSIC
internal_repeat_1 380 401 2.69e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000106950
AA Change: E22G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102563
Gene: ENSMUSG00000099481
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 5.2e-29 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
internal_repeat_1 324 345 2.69e-6 PROSPERO
low complexity region 346 379 N/A INTRINSIC
internal_repeat_1 380 401 2.69e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000123372
AA Change: E22G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 5.2e-29 PFAM
low complexity region 254 267 N/A INTRINSIC
low complexity region 275 280 N/A INTRINSIC
low complexity region 297 311 N/A INTRINSIC
internal_repeat_1 324 345 2.69e-6 PROSPERO
low complexity region 346 379 N/A INTRINSIC
internal_repeat_1 380 401 2.69e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125197
Predicted Effect probably benign
Transcript: ENSMUST00000139104
SMART Domains Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141646
Predicted Effect probably benign
Transcript: ENSMUST00000146450
AA Change: E22G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117300
Gene: ENSMUSG00000099481
AA Change: E22G

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 152 1.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153176
Predicted Effect probably benign
Transcript: ENSMUST00000155078
SMART Domains Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 62 4.4e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Xndr (XRCC1 N-terminal domain-related) and Trpc2 (transient receptor potential cation channel, subfamily C, member 2) genes on chromosome 7. Readthrough transcripts include one that encodes a fusion protein that shares sequence identity with each individual gene product and one that is a candidate for nonsense-mediated mRNA decay (NMD), and thus is unlikely to produce a protein product. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Xntrpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Xntrpc APN 7 102087547 missense probably damaging 1.00
IGL00822:Xntrpc APN 7 102084368 missense probably damaging 1.00
IGL01713:Xntrpc APN 7 102083852 splice site probably benign
IGL01797:Xntrpc APN 7 102090546 missense possibly damaging 0.78
IGL02066:Xntrpc APN 7 102077829 missense probably benign 0.18
IGL02336:Xntrpc APN 7 102084285 missense probably damaging 0.99
IGL02383:Xntrpc APN 7 102093595 missense probably damaging 1.00
IGL02730:Xntrpc APN 7 102082112 missense probably damaging 0.98
R1110:Xntrpc UTSW 7 102082974 missense possibly damaging 0.53
Posted On2013-12-03