Incidental Mutation 'R6387:Chad'
ID 514668
Institutional Source Beutler Lab
Gene Symbol Chad
Ensembl Gene ENSMUSG00000039084
Gene Name chondroadherin
Synonyms SLRR4A
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6387 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94455873-94459953 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94458663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 271 (H271Y)
Ref Sequence ENSEMBL: ENSMUSP00000047844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040418] [ENSMUST00000103164]
AlphaFold O55226
Predicted Effect possibly damaging
Transcript: ENSMUST00000040418
AA Change: H271Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084
AA Change: H271Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRRNT 21 54 1.7e-7 SMART
LRR_TYP 73 96 9.58e-3 SMART
LRR_TYP 97 120 1.45e-2 SMART
LRR_TYP 121 144 1.69e-3 SMART
LRR_TYP 145 168 6.42e-4 SMART
LRR 170 192 2.2e1 SMART
LRR 193 216 2.14e1 SMART
LRR_TYP 217 240 4.17e-3 SMART
LRR 245 265 2.27e2 SMART
LRR 266 289 3.36e1 SMART
LRRCT 299 346 1.1e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103164
SMART Domains Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435

DomainStartEndE-ValueType
Pfam:AMP-binding 78 516 3.9e-100 PFAM
Pfam:AMP-binding_C 524 599 1.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155122
Meta Mutation Damage Score 0.0988 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit widened epiphyseal growth plate, abnormal tracbecular and cortical bone morphology and lower femoral neck failure load and tibial strength. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ankrd31 A G 13: 96,967,081 (GRCm39) D520G probably damaging Het
Ano4 A T 10: 88,807,267 (GRCm39) Y736* probably null Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Smad3 G T 9: 63,562,047 (GRCm39) D310E probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zfp993 A G 4: 146,741,975 (GRCm39) T100A probably damaging Het
Other mutations in Chad
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1393:Chad UTSW 11 94,456,140 (GRCm39) missense probably benign
R1480:Chad UTSW 11 94,455,963 (GRCm39) intron probably benign
R1855:Chad UTSW 11 94,456,303 (GRCm39) missense probably damaging 1.00
R1924:Chad UTSW 11 94,456,384 (GRCm39) missense possibly damaging 0.59
R2115:Chad UTSW 11 94,459,052 (GRCm39) missense probably benign 0.01
R2255:Chad UTSW 11 94,456,523 (GRCm39) missense possibly damaging 0.82
R4418:Chad UTSW 11 94,458,663 (GRCm39) missense possibly damaging 0.90
R4847:Chad UTSW 11 94,459,153 (GRCm39) missense probably benign 0.00
R4948:Chad UTSW 11 94,456,528 (GRCm39) missense probably damaging 1.00
R5441:Chad UTSW 11 94,459,118 (GRCm39) missense probably benign 0.01
R5511:Chad UTSW 11 94,456,072 (GRCm39) missense probably damaging 1.00
R6528:Chad UTSW 11 94,456,450 (GRCm39) missense probably damaging 1.00
R7751:Chad UTSW 11 94,455,999 (GRCm39) missense probably damaging 1.00
R8389:Chad UTSW 11 94,458,718 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAGGATGACATCATTGTGGC -3'
(R):5'- TCAGTACCCGACATGCTAGGTAG -3'

Sequencing Primer
(F):5'- ATTGTGGCTCCTCAACAGG -3'
(R):5'- TAGGATGTCCAGGCTGTCCTAC -3'
Posted On 2018-05-04