Incidental Mutation 'R4743:Rhox2c'
ID 358198
Institutional Source Beutler Lab
Gene Symbol Rhox2c
Ensembl Gene ENSMUSG00000079637
Gene Name reproductive homeobox 2C
Synonyms OTTMUSG00000017149, Rhox2,3
MMRRC Submission 041967-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4743 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 36635133-36640049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36635351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 4 (Q4H)
Ref Sequence ENSEMBL: ENSMUSP00000139080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115188] [ENSMUST00000115190] [ENSMUST00000184688]
AlphaFold A2AWL9
Predicted Effect probably benign
Transcript: ENSMUST00000115188
SMART Domains Protein: ENSMUSP00000110842
Gene: ENSMUSG00000079636

DomainStartEndE-ValueType
HOX 154 215 5.74e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115190
AA Change: Q4H

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110844
Gene: ENSMUSG00000079637
AA Change: Q4H

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 89 98 N/A INTRINSIC
HOX 128 190 1.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173574
SMART Domains Protein: ENSMUSP00000134224
Gene: ENSMUSG00000079637

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
HOX 60 113 1.13e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183655
Predicted Effect probably benign
Transcript: ENSMUST00000184688
AA Change: Q4H

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139080
Gene: ENSMUSG00000079637
AA Change: Q4H

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 89 98 N/A INTRINSIC
HOX 128 183 5.44e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,858,972 (GRCm39) probably benign Het
Ahcy T C 2: 154,910,888 (GRCm39) N27D probably damaging Het
Akap9 T G 5: 4,011,013 (GRCm39) L572R probably damaging Het
Akna A G 4: 63,296,850 (GRCm39) S909P probably damaging Het
Atr A G 9: 95,744,845 (GRCm39) E54G probably benign Het
Baz2b A G 2: 59,744,255 (GRCm39) S1417P probably benign Het
Colgalt2 A G 1: 152,276,094 (GRCm39) Y69C probably damaging Het
Comp A G 8: 70,828,711 (GRCm39) E181G probably damaging Het
Dcaf10 T A 4: 45,370,409 (GRCm39) S326T probably damaging Het
Dscam T C 16: 96,631,256 (GRCm39) E253G probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Epha1 G T 6: 42,349,155 (GRCm39) T36K probably benign Het
Ewsr1 A T 11: 5,033,541 (GRCm39) D210E unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fndc1 T A 17: 7,991,111 (GRCm39) R862* probably null Het
Gbp8 T C 5: 105,178,707 (GRCm39) K203E possibly damaging Het
Gigyf2 T A 1: 87,292,970 (GRCm39) L79* probably null Het
Gm8220 T A 14: 44,523,152 (GRCm39) probably benign Het
Gm9755 A T 8: 67,966,929 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,042 (GRCm39) Y120H probably damaging Het
Kcnma1 T C 14: 23,853,270 (GRCm39) T2A probably damaging Het
Mroh9 T C 1: 162,852,061 (GRCm39) Y876C probably benign Het
Plekhh2 A G 17: 84,878,548 (GRCm39) Y601C probably damaging Het
Rabgap1l G T 1: 160,281,353 (GRCm39) Q623K probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rapgef2 T C 3: 79,080,375 (GRCm39) Y109C probably damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slain2 T A 5: 73,114,927 (GRCm39) L386* probably null Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Slco1c1 T C 6: 141,510,242 (GRCm39) C582R probably damaging Het
Sulf1 A G 1: 12,906,517 (GRCm39) N520D probably benign Het
Tbc1d7 A G 13: 43,323,325 (GRCm39) V22A probably damaging Het
Tmprss6 A G 15: 78,327,910 (GRCm39) V612A probably damaging Het
Trpv2 A G 11: 62,483,627 (GRCm39) E488G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Uspl1 A G 5: 149,146,566 (GRCm39) Y439C probably damaging Het
Vwf A G 6: 125,661,054 (GRCm39) probably null Het
Other mutations in Rhox2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4694:Rhox2c UTSW X 36,635,351 (GRCm39) missense probably benign 0.24
R4742:Rhox2c UTSW X 36,635,351 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AGTCGCAGCAACAGGAGTAC -3'
(R):5'- TGTATCCTTCCGCTGCTGAG -3'

Sequencing Primer
(F):5'- GTACAACCAGAAGGCAGGACAC -3'
(R):5'- GTCTTTATACCTTAAGTGGGGAAACG -3'
Posted On 2015-11-11