Mutagenetix > Incidental Mutations

Incidental Mutation 'R0125:Chodl'

21332

Institutional Source

Beutler Lab

Gene Symbol

Chodl

Ensembl Gene

ENSMUSG00000022860

Gene Name

chondrolectin

Synonyms

MT75, 3110074E07Rik, PRED12

MMRRC Submission

038410-MU

Accession Numbers

Genbank: NM_139134 ; MGI: 2179069

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78930948-78951733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78941423 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 93 (G93V)

Ref Sequence

ENSEMBL: ENSMUSP00000156041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023568] [ENSMUST00000069148] [ENSMUST00000114216] [ENSMUST00000232415]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023568
AA Change: G93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: G93V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CLECT	31	179	4.07e-25	SMART
transmembrane domain	218	240	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069148
AA Change: G93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: G93V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CLECT	31	179	4.07e-25	SMART
transmembrane domain	218	240	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114216
AA Change: G93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: G93V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CLECT	31	179	4.07e-25	SMART
transmembrane domain	218	240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231883

Predicted Effect

probably damaging
Transcript: ENSMUST00000232415
AA Change: G93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5559

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,156,647		probably benign	Het
Adam23	T	C	1: 63,534,356	L261P	probably benign	Het
Adgra3	G	A	5: 50,001,852		probably benign	Het
Agtr1b	A	G	3: 20,315,540	F301L	probably benign	Het
Ahnak2	G	A	12: 112,785,156	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,727,066		probably benign	Het
Apoh	A	T	11: 108,412,073	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,343,139	V24A	probably benign	Het
Atp6v0a1	A	G	11: 101,038,851		probably null	Het
Axl	A	T	7: 25,786,943	M112K	probably benign	Het
Bnc2	A	C	4: 84,292,932	I425S	probably damaging	Het
Cdc42bpa	C	T	1: 179,961,198	T30M	probably damaging	Het
Cebpz	C	A	17: 78,919,888	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,175,182		probably benign	Het
Chd1l	T	C	3: 97,587,149	N405S	probably benign	Het
Cpeb2	C	T	5: 43,238,400		probably benign	Het
Crebbp	A	G	16: 4,117,241		probably benign	Het
Crybb3	T	C	5: 113,079,809	T49A	possibly damaging	Het
Ctps	A	G	4: 120,561,525		probably benign	Het
Cyp26b1	A	G	6: 84,574,515	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,389,221	V483G	probably benign	Het
Dnah14	A	T	1: 181,752,063	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,178,039	D756A	unknown	Het
Dst	T	C	1: 34,270,903	S1553P	probably damaging	Het
Elp4	A	G	2: 105,792,214		probably null	Het
Eml6	G	T	11: 29,882,088	T194K	probably benign	Het
Evi5	A	G	5: 107,795,772	I569T	probably benign	Het
Fam129b	T	A	2: 32,923,821	V682D	probably benign	Het
Fancm	C	T	12: 65,121,956	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,445,545	D791G	probably benign	Het
Frem1	A	G	4: 83,011,951	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,381,418	Y196C	probably benign	Het
Hcls1	A	G	16: 36,962,163	D398G	probably benign	Het
Hydin	T	C	8: 110,462,531	V1189A	probably benign	Het
Itgb3	G	A	11: 104,643,963	D549N	probably damaging	Het
Itpr2	A	G	6: 146,240,453	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,999,051	T161A	probably benign	Het
Kntc1	G	A	5: 123,765,057		probably benign	Het
Map3k19	A	T	1: 127,823,100	F838Y	probably benign	Het
Map6	T	A	7: 99,335,980		probably null	Het
Mcrs1	A	G	15: 99,244,727		probably benign	Het
Mdn1	A	T	4: 32,729,956	Y2766F	probably damaging	Het
Med23	C	T	10: 24,900,788	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,594,582	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,951,257	L442Q	probably damaging	Het
Myo19	T	C	11: 84,888,175		probably benign	Het
Nedd1	A	C	10: 92,691,929	S468A	possibly damaging	Het
Nlrp4d	A	C	7: 10,382,389	V152G	probably damaging	Het
Nxf1	T	A	19: 8,762,806	D112E	probably benign	Het
Oas1h	A	T	5: 120,862,563	K79*	probably null	Het
Olfr494	A	G	7: 108,368,369	Y293C	probably damaging	Het
Olfr888	A	G	9: 38,109,519	T278A	probably benign	Het
Olfr904	T	A	9: 38,464,461	L140*	probably null	Het
Omg	T	A	11: 79,502,853	I60F	possibly damaging	Het
Pck1	G	A	2: 173,156,081	W314*	probably null	Het
Pla2g15	T	C	8: 106,163,124	Y343H	probably benign	Het
Plcb3	T	C	19: 6,958,908	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,351,042		probably null	Het
Pprc1	A	G	19: 46,069,512		probably benign	Het
Prkdc	A	T	16: 15,699,007	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,625,875	Y172*	probably null	Het
Ros1	G	T	10: 52,125,789	A1079D	probably benign	Het
Sap30	T	C	8: 57,485,511	E147G	probably null	Het
Sell	T	C	1: 164,072,105		probably benign	Het
Senp1	A	T	15: 98,048,231	D544E	probably damaging	Het
Shpk	G	A	11: 73,214,222		probably benign	Het
Slc35b1	A	T	11: 95,386,527	T74S	probably benign	Het
Slc6a3	T	A	13: 73,569,979		probably benign	Het
Slf1	T	C	13: 77,043,745	N990S	probably benign	Het
Smgc	A	G	15: 91,854,543		probably benign	Het
Snx19	T	A	9: 30,440,219	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,352,978	P39S	unknown	Het
Sstr2	T	A	11: 113,624,477	M74K	probably damaging	Het
St5	T	C	7: 109,556,338	K402E	probably benign	Het
Svep1	T	C	4: 58,099,937		probably benign	Het
Tas2r143	A	G	6: 42,400,955	I240V	probably benign	Het
Tbrg1	T	C	9: 37,652,641	I233V	probably benign	Het
Tecpr1	G	T	5: 144,197,899	D1055E	probably damaging	Het
Thap2	A	T	10: 115,376,372		probably null	Het
Tinagl1	A	G	4: 130,166,308	Y388H	probably damaging	Het
Ttn	T	A	2: 76,755,552	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 86,926,102	W133R	probably benign	Het
Usp24	C	T	4: 106,397,299	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,250,882	S395P	possibly damaging	Het
Vav1	T	A	17: 57,299,847	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,029,807	Y734C	probably damaging	Het
Vps8	T	A	16: 21,470,154	V421E	probably benign	Het
Wisp1	T	C	15: 66,917,345	S227P	possibly damaging	Het
Xkr7	G	T	2: 153,032,426	A138S	probably benign	Het

Other mutations in Chodl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Chodl	APN	16	78941263	missense	probably damaging	1.00
IGL01632:Chodl	APN	16	78944564	intron	probably benign
IGL01968:Chodl	APN	16	78941669	missense	probably damaging	1.00
IGL03095:Chodl	APN	16	78941433	missense	probably damaging	1.00
R1852:Chodl	UTSW	16	78941258	missense	probably benign	0.01
R1938:Chodl	UTSW	16	78941426	missense	possibly damaging	0.77
R2109:Chodl	UTSW	16	78941363	missense	possibly damaging	0.58
R4362:Chodl	UTSW	16	78944658	critical splice donor site	probably null
R4502:Chodl	UTSW	16	78931444	missense	possibly damaging	0.65
R5299:Chodl	UTSW	16	78941408	missense	probably damaging	0.99
R5386:Chodl	UTSW	16	78946697	missense	probably damaging	1.00
R5677:Chodl	UTSW	16	78941315	missense	probably damaging	1.00
R6959:Chodl	UTSW	16	78946684	missense	probably damaging	1.00
R7138:Chodl	UTSW	16	78941447	missense	probably damaging	1.00
R7147:Chodl	UTSW	16	78946741	missense	probably damaging	1.00
X0067:Chodl	UTSW	16	78931373	missense	possibly damaging	0.46
YA93:Chodl	UTSW	16	78941282	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GCGTACTTCCATGAACTGTCTAGCC -3'
(R):5'- AATTGTGCTTCATGTTGCACCTGTC -3'

Sequencing Primer
(F):5'- CATGAACTGTCTAGCCGGGTG -3'
(R):5'- CGTCATTCCACTGGTAAAGGTAG -3'

Posted On

2013-04-11