Incidental Mutation 'R5604:Barhl2'
ID 439174
Institutional Source Beutler Lab
Gene Symbol Barhl2
Ensembl Gene ENSMUSG00000034384
Gene Name BarH like homeobox 2
Synonyms MBH1, E130309B19Rik
MMRRC Submission 043156-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5604 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 106600389-106606032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106603412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 249 (E249G)
Ref Sequence ENSEMBL: ENSMUSP00000084005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086795]
AlphaFold Q8VIB5
Predicted Effect probably benign
Transcript: ENSMUST00000086795
AA Change: E249G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084005
Gene: ENSMUSG00000034384
AA Change: E249G

DomainStartEndE-ValueType
low complexity region 83 138 N/A INTRINSIC
HOX 229 291 4.6e-26 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with slow weight gain, impaired coordination, decreased numbers of retinal ganglion cells and retinal amacrine cells, and abnormal eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,556,278 (GRCm39) N164I possibly damaging Het
4933402J07Rik C A 8: 88,295,125 (GRCm39) R88S possibly damaging Het
Abca1 A T 4: 53,067,168 (GRCm39) probably null Het
Abca13 T A 11: 9,516,279 (GRCm39) I4406K probably damaging Het
Adam6b T A 12: 113,454,420 (GRCm39) Y412* probably null Het
Ahcyl2 C T 6: 29,908,366 (GRCm39) H370Y probably damaging Het
Ahi1 A G 10: 20,862,904 (GRCm39) Y693C probably damaging Het
Anapc4 T A 5: 52,999,076 (GRCm39) Y129* probably null Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Antxr2 T C 5: 98,096,169 (GRCm39) K372E probably damaging Het
Arhgef1 C T 7: 24,612,210 (GRCm39) H198Y probably benign Het
C2cd5 T C 6: 142,957,747 (GRCm39) E987G probably benign Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccser1 C T 6: 61,290,788 (GRCm39) T490M probably damaging Het
Cd8b1 T C 6: 71,303,159 (GRCm39) V78A probably benign Het
Cdc25c A G 18: 34,866,701 (GRCm39) Y374H probably damaging Het
Cmya5 C T 13: 93,229,271 (GRCm39) R1939H probably benign Het
Cyp2d40 A G 15: 82,648,256 (GRCm39) F19S probably damaging Het
Dll3 A G 7: 27,994,057 (GRCm39) V460A probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
E4f1 A G 17: 24,663,118 (GRCm39) I729T probably damaging Het
Endou A C 15: 97,618,800 (GRCm39) S75A probably benign Het
Epas1 C T 17: 87,113,200 (GRCm39) H129Y probably damaging Het
Grm1 T A 10: 10,622,479 (GRCm39) N415Y probably damaging Het
Hdc A T 2: 126,436,583 (GRCm39) S429R probably benign Het
Hnf4g C T 3: 3,722,186 (GRCm39) Q447* probably null Het
Htr6 C T 4: 138,788,814 (GRCm39) A414T probably benign Het
Insig1 T C 5: 28,280,080 (GRCm39) L224P probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Irak2 T A 6: 113,667,792 (GRCm39) S458T possibly damaging Het
Irs2 A G 8: 11,055,007 (GRCm39) S1142P possibly damaging Het
Kirrel1 T A 3: 86,996,462 (GRCm39) N379I possibly damaging Het
L3mbtl4 T A 17: 69,084,917 (GRCm39) D609E probably benign Het
Lama3 A G 18: 12,572,405 (GRCm39) T537A probably benign Het
Lce1i A T 3: 92,685,056 (GRCm39) V40E unknown Het
Mprip T A 11: 59,649,293 (GRCm39) V999D probably benign Het
Myd88 G T 9: 119,168,829 (GRCm39) T85K possibly damaging Het
Or1e35 T A 11: 73,797,853 (GRCm39) H155L probably benign Het
Padi6 A T 4: 140,458,473 (GRCm39) M473K probably damaging Het
Pcdh12 T A 18: 38,401,935 (GRCm39) S97C probably damaging Het
Pkd1l1 T A 11: 8,783,877 (GRCm39) D2026V probably damaging Het
Plcxd1 T C 5: 110,250,451 (GRCm39) V264A probably benign Het
Plekha4 T C 7: 45,198,580 (GRCm39) S558P probably damaging Het
Ppm1a T A 12: 72,837,455 (GRCm39) M334K probably benign Het
Ppp1r13l T C 7: 19,109,524 (GRCm39) S684P possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prl2a1 T C 13: 27,990,369 (GRCm39) probably benign Het
Ptch1 T C 13: 63,672,936 (GRCm39) K753E probably benign Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Ror2 G A 13: 53,271,201 (GRCm39) R373C probably benign Het
Rtn4 C A 11: 29,658,140 (GRCm39) L765I probably damaging Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Setd2 T A 9: 110,433,284 (GRCm39) D62E probably damaging Het
Ss18 A T 18: 14,769,577 (GRCm39) Y327N unknown Het
Ticam1 G A 17: 56,578,756 (GRCm39) T113I probably benign Het
Tnrc6a A G 7: 122,773,459 (GRCm39) I1134V probably damaging Het
Top3b T G 16: 16,707,399 (GRCm39) Y526* probably null Het
Tph2 T C 10: 114,926,614 (GRCm39) E384G probably damaging Het
Ttll11 A T 2: 35,707,798 (GRCm39) I503N probably benign Het
Zfp87 T G 13: 67,665,945 (GRCm39) K172N probably damaging Het
Other mutations in Barhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00332:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00339:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00418:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00421:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00425:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00428:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00432:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL00471:Barhl2 APN 5 106,603,365 (GRCm39) missense possibly damaging 0.92
IGL02548:Barhl2 APN 5 106,603,391 (GRCm39) missense probably benign 0.22
BB001:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
BB011:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
R0310:Barhl2 UTSW 5 106,605,253 (GRCm39) missense possibly damaging 0.93
R1662:Barhl2 UTSW 5 106,601,365 (GRCm39) missense probably benign 0.02
R1749:Barhl2 UTSW 5 106,605,572 (GRCm39) missense unknown
R1974:Barhl2 UTSW 5 106,605,179 (GRCm39) missense probably benign 0.35
R5184:Barhl2 UTSW 5 106,605,506 (GRCm39) missense unknown
R5195:Barhl2 UTSW 5 106,601,305 (GRCm39) missense possibly damaging 0.96
R6026:Barhl2 UTSW 5 106,603,474 (GRCm39) missense probably benign 0.04
R7924:Barhl2 UTSW 5 106,605,515 (GRCm39) missense unknown
R8906:Barhl2 UTSW 5 106,603,352 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCATTTGGATGTGTGCCTAAC -3'
(R):5'- CCTCGGTTCAGGCTGATTTAC -3'

Sequencing Primer
(F):5'- GGATGTGTGCCTAACCTCTGC -3'
(R):5'- CAGAACCCTGTCACTGTTTCTAC -3'
Posted On 2016-10-26