Incidental Mutation 'R0158:Gm14496'
ID 60911
Institutional Source Beutler Lab
Gene Symbol Gm14496
Ensembl Gene ENSMUSG00000098505
Gene Name predicted gene 14496
Synonyms
MMRRC Submission 038438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0158 (G1)
Quality Score 94
Status Not validated
Chromosome 2
Chromosomal Location 181633019-181642880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 181639206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 432 (V432E)
Ref Sequence ENSEMBL: ENSMUSP00000071670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071760]
AlphaFold K7N5U4
Predicted Effect probably benign
Transcript: ENSMUST00000071760
AA Change: V432E

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: V432E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 76 456 1.3e-30 PFAM
Pfam:NCD3G 508 562 1.9e-18 PFAM
Pfam:7tm_3 595 830 7.9e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000089788
SMART Domains Protein: ENSMUSP00000087221
Gene: ENSMUSG00000053277

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 76 425 2.8e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184507
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 93% (79/85)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,316 (GRCm39) R437C probably damaging Het
Abhd3 A G 18: 10,647,840 (GRCm39) Y315H possibly damaging Het
Adam19 C T 11: 46,033,861 (GRCm39) P891L probably damaging Het
Ampd1 T A 3: 102,999,046 (GRCm39) Y400* probably null Het
Ap1g1 T C 8: 110,582,267 (GRCm39) S724P probably benign Het
Bst2 T A 8: 71,989,861 (GRCm39) T71S possibly damaging Het
C3 A G 17: 57,531,851 (GRCm39) probably null Het
Cacna2d1 C A 5: 16,566,815 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,213,709 (GRCm39) H43Y possibly damaging Het
Ccdc71 T G 9: 108,341,336 (GRCm39) V383G probably benign Het
Cd109 A T 9: 78,596,214 (GRCm39) Q849L possibly damaging Het
Cdkn2a A T 4: 89,195,004 (GRCm39) H115Q possibly damaging Het
Ces1e T C 8: 93,946,057 (GRCm39) E161G probably benign Het
Cggbp1 C T 16: 64,676,201 (GRCm39) S89L possibly damaging Het
Crocc A T 4: 140,769,553 (GRCm39) probably benign Het
Cspg4b T A 13: 113,505,687 (GRCm39) L2272* probably null Het
Eef1akmt3 G A 10: 126,869,142 (GRCm39) Q111* probably null Het
Exoc7 T C 11: 116,186,118 (GRCm39) N361S probably benign Het
Fat2 G T 11: 55,187,011 (GRCm39) S1278R probably benign Het
Fbxo42 A G 4: 140,927,640 (GRCm39) N640S probably benign Het
Fbxw25 A G 9: 109,483,720 (GRCm39) V164A possibly damaging Het
Fcgbpl1 A G 7: 27,854,917 (GRCm39) I1848V probably damaging Het
Foxs1 T C 2: 152,774,330 (GRCm39) E241G probably damaging Het
Fras1 A T 5: 96,924,493 (GRCm39) I3645F possibly damaging Het
H3c2 T A 13: 23,936,693 (GRCm39) C111S probably damaging Het
Herc1 T A 9: 66,403,203 (GRCm39) L4374* probably null Het
Ift122 T C 6: 115,901,445 (GRCm39) probably benign Het
Itgav C A 2: 83,622,381 (GRCm39) N654K probably benign Het
Itih5 T C 2: 10,239,803 (GRCm39) probably benign Het
Jak2 C A 19: 29,289,157 (GRCm39) T1103K probably benign Het
Kcnc4 C A 3: 107,365,920 (GRCm39) C96F probably benign Het
Med13l C A 5: 118,880,514 (GRCm39) S1202Y unknown Het
Mefv T C 16: 3,533,320 (GRCm39) E317G possibly damaging Het
Ncoa2 T C 1: 13,222,608 (GRCm39) T1226A probably benign Het
Nktr C T 9: 121,579,757 (GRCm39) probably benign Het
Nudt5 G A 2: 5,867,114 (GRCm39) V61M probably damaging Het
Or51a39 C T 7: 102,363,162 (GRCm39) A153T probably benign Het
Pakap A G 4: 57,709,649 (GRCm39) D198G possibly damaging Het
Pcdhb2 A C 18: 37,430,283 (GRCm39) Y752S probably damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pnp2 G A 14: 51,201,761 (GRCm39) R249H probably damaging Het
Rgs3 A T 4: 62,542,121 (GRCm39) I32F probably damaging Het
Rnf139 A G 15: 58,770,727 (GRCm39) T251A probably benign Het
Rnf41 A G 10: 128,274,104 (GRCm39) E252G probably damaging Het
Rxfp2 T A 5: 149,975,093 (GRCm39) F220Y probably benign Het
Sdcbp A G 4: 6,379,042 (GRCm39) D43G possibly damaging Het
Serpina3f A G 12: 104,183,267 (GRCm39) D43G probably damaging Het
Sftpc T C 14: 70,758,887 (GRCm39) K154R probably null Het
Simc1 A G 13: 54,672,530 (GRCm39) T293A probably benign Het
Skint6 A T 4: 113,042,011 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,225,208 (GRCm39) probably benign Het
Spata31e2 T G 1: 26,723,032 (GRCm39) H716P probably damaging Het
Ston2 A T 12: 91,707,376 (GRCm39) I78N probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tent4b G A 8: 88,977,371 (GRCm39) G391D probably damaging Het
Tiam1 C T 16: 89,589,889 (GRCm39) probably benign Het
Tnfsf15 T C 4: 63,648,229 (GRCm39) H137R possibly damaging Het
Tpte G A 8: 22,817,755 (GRCm39) R247H possibly damaging Het
Trim2 T C 3: 84,117,476 (GRCm39) probably benign Het
Ulk1 A T 5: 110,936,810 (GRCm39) probably benign Het
Utp4 T G 8: 107,640,018 (GRCm39) H442Q probably null Het
Vmn1r193 T A 13: 22,403,798 (GRCm39) I65F probably damaging Het
Vps54 A T 11: 21,256,962 (GRCm39) Q690L probably damaging Het
Ybx2 T C 11: 69,831,145 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,568,993 (GRCm39) G697D possibly damaging Het
Zfp202 C T 9: 40,120,212 (GRCm39) Q218* probably null Het
Zfp820 G A 17: 22,038,800 (GRCm39) T176I probably benign Het
Other mutations in Gm14496
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Gm14496 APN 2 181,636,814 (GRCm39) missense probably damaging 1.00
IGL01300:Gm14496 APN 2 181,642,753 (GRCm39) missense probably damaging 1.00
IGL01328:Gm14496 APN 2 181,637,673 (GRCm39) missense probably damaging 1.00
IGL01526:Gm14496 APN 2 181,637,458 (GRCm39) missense probably benign 0.12
IGL01576:Gm14496 APN 2 181,633,164 (GRCm39) missense possibly damaging 0.92
IGL01775:Gm14496 APN 2 181,642,125 (GRCm39) missense probably benign 0.00
IGL02020:Gm14496 APN 2 181,637,882 (GRCm39) missense possibly damaging 0.95
IGL02150:Gm14496 APN 2 181,633,140 (GRCm39) missense probably damaging 0.99
IGL02170:Gm14496 APN 2 181,638,144 (GRCm39) missense probably damaging 1.00
IGL02262:Gm14496 APN 2 181,637,805 (GRCm39) missense probably damaging 1.00
IGL02398:Gm14496 APN 2 181,637,963 (GRCm39) missense probably benign 0.09
IGL02414:Gm14496 APN 2 181,633,198 (GRCm39) missense probably benign 0.03
IGL02541:Gm14496 APN 2 181,642,186 (GRCm39) missense probably benign 0.29
IGL02741:Gm14496 APN 2 181,633,136 (GRCm39) missense probably benign
IGL02933:Gm14496 APN 2 181,642,256 (GRCm39) missense probably benign 0.15
IGL03214:Gm14496 APN 2 181,642,329 (GRCm39) missense probably damaging 1.00
FR4342:Gm14496 UTSW 2 181,637,699 (GRCm39) missense probably benign 0.01
R0271:Gm14496 UTSW 2 181,637,747 (GRCm39) missense probably benign 0.44
R0611:Gm14496 UTSW 2 181,636,904 (GRCm39) missense probably benign 0.00
R0833:Gm14496 UTSW 2 181,638,059 (GRCm39) missense probably damaging 0.99
R0834:Gm14496 UTSW 2 181,637,480 (GRCm39) missense probably benign 0.00
R0906:Gm14496 UTSW 2 181,642,308 (GRCm39) missense probably damaging 0.98
R1298:Gm14496 UTSW 2 181,637,885 (GRCm39) missense probably benign 0.39
R1500:Gm14496 UTSW 2 181,633,026 (GRCm39) missense probably benign 0.21
R1585:Gm14496 UTSW 2 181,638,002 (GRCm39) missense possibly damaging 0.79
R1610:Gm14496 UTSW 2 181,637,972 (GRCm39) missense probably benign 0.01
R1627:Gm14496 UTSW 2 181,640,571 (GRCm39) missense probably damaging 1.00
R1635:Gm14496 UTSW 2 181,642,837 (GRCm39) missense possibly damaging 0.88
R1663:Gm14496 UTSW 2 181,639,230 (GRCm39) missense probably benign 0.03
R1792:Gm14496 UTSW 2 181,637,946 (GRCm39) missense probably benign 0.00
R1888:Gm14496 UTSW 2 181,641,989 (GRCm39) nonsense probably null
R1888:Gm14496 UTSW 2 181,641,989 (GRCm39) nonsense probably null
R1922:Gm14496 UTSW 2 181,642,797 (GRCm39) missense probably benign 0.22
R2081:Gm14496 UTSW 2 181,642,272 (GRCm39) missense probably damaging 1.00
R2102:Gm14496 UTSW 2 181,633,127 (GRCm39) missense possibly damaging 0.88
R2176:Gm14496 UTSW 2 181,633,130 (GRCm39) missense probably benign
R4154:Gm14496 UTSW 2 181,636,872 (GRCm39) missense probably benign 0.01
R4789:Gm14496 UTSW 2 181,637,577 (GRCm39) missense possibly damaging 0.85
R4873:Gm14496 UTSW 2 181,639,226 (GRCm39) missense probably damaging 0.99
R4875:Gm14496 UTSW 2 181,639,226 (GRCm39) missense probably damaging 0.99
R5020:Gm14496 UTSW 2 181,633,152 (GRCm39) missense possibly damaging 0.67
R5354:Gm14496 UTSW 2 181,642,602 (GRCm39) missense probably damaging 1.00
R5361:Gm14496 UTSW 2 181,642,147 (GRCm39) missense probably benign 0.07
R5457:Gm14496 UTSW 2 181,639,401 (GRCm39) missense probably damaging 0.96
R5589:Gm14496 UTSW 2 181,637,674 (GRCm39) nonsense probably null
R5655:Gm14496 UTSW 2 181,637,975 (GRCm39) missense probably benign 0.06
R6007:Gm14496 UTSW 2 181,639,323 (GRCm39) missense probably benign 0.37
R6123:Gm14496 UTSW 2 181,633,020 (GRCm39) start codon destroyed probably null 1.00
R6159:Gm14496 UTSW 2 181,638,050 (GRCm39) missense probably benign 0.01
R6168:Gm14496 UTSW 2 181,642,750 (GRCm39) missense probably damaging 1.00
R6454:Gm14496 UTSW 2 181,638,015 (GRCm39) missense probably damaging 0.97
R6502:Gm14496 UTSW 2 181,642,386 (GRCm39) missense probably benign 0.01
R6649:Gm14496 UTSW 2 181,639,269 (GRCm39) missense possibly damaging 0.83
R6996:Gm14496 UTSW 2 181,637,997 (GRCm39) missense probably damaging 1.00
R7043:Gm14496 UTSW 2 181,642,120 (GRCm39) missense possibly damaging 0.70
R7317:Gm14496 UTSW 2 181,637,613 (GRCm39) missense possibly damaging 0.56
R7354:Gm14496 UTSW 2 181,642,479 (GRCm39) missense probably damaging 1.00
R7565:Gm14496 UTSW 2 181,642,630 (GRCm39) missense probably damaging 0.99
R7565:Gm14496 UTSW 2 181,633,050 (GRCm39) missense possibly damaging 0.84
R7669:Gm14496 UTSW 2 181,637,711 (GRCm39) missense possibly damaging 0.95
R7828:Gm14496 UTSW 2 181,633,171 (GRCm39) nonsense probably null
R7870:Gm14496 UTSW 2 181,637,906 (GRCm39) missense probably benign 0.09
R8006:Gm14496 UTSW 2 181,637,669 (GRCm39) missense probably benign 0.03
R8379:Gm14496 UTSW 2 181,642,275 (GRCm39) missense probably damaging 0.99
R9174:Gm14496 UTSW 2 181,642,797 (GRCm39) missense possibly damaging 0.95
R9416:Gm14496 UTSW 2 181,640,647 (GRCm39) missense probably damaging 1.00
R9429:Gm14496 UTSW 2 181,637,934 (GRCm39) missense possibly damaging 0.60
R9463:Gm14496 UTSW 2 181,642,256 (GRCm39) missense probably benign 0.15
R9499:Gm14496 UTSW 2 181,638,179 (GRCm39) missense probably benign 0.00
R9581:Gm14496 UTSW 2 181,642,047 (GRCm39) missense probably benign 0.10
X0058:Gm14496 UTSW 2 181,637,779 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGAAAAGGTGTCTCAACATTTCACCA -3'
(R):5'- AGTTGTTGACTCTGTGGAAAACAAGGT -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- CTGTGGAAAACAAGGTAAATAGCTTC -3'
Posted On 2013-07-24