Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02352:C1qtnf5'

289521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1qtnf5

Ensembl Gene

ENSMUSG00000079592

Gene Name

C1q and tumor necrosis factor related protein 5

Synonyms

CTRP5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

44018542-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44019631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 85 (E85G)

Ref Sequence

ENSEMBL: ENSMUSP00000123040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000152956] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000206769] [ENSMUST00000206308] [ENSMUST00000162126] [ENSMUST00000161381] [ENSMUST00000185479] [ENSMUST00000215685] [ENSMUST00000161703] [ENSMUST00000216511]

AlphaFold

Q8K479

Predicted Effect

probably benign
Transcript: ENSMUST00000034654

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	471	577	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056328

SMART Domains

Protein: ENSMUSP00000110478
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065379

SMART Domains

Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114815
AA Change: E85G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592
AA Change: E85G

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114816
AA Change: E85G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592
AA Change: E85G

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114818
AA Change: E85G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592
AA Change: E85G

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114821
AA Change: E85G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592
AA Change: E85G

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	220	1.01e-29	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152956
AA Change: E85G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592
AA Change: E85G

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:Collagen	28	102	7.2e-10	PFAM
Pfam:C1q	105	138	1.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205500
AA Change: E85G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181106

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000206722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

probably benign
Transcript: ENSMUST00000206308

Predicted Effect

probably benign
Transcript: ENSMUST00000160985

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
RING	11	52	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162126

SMART Domains

Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161381

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	465	576	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185479

SMART Domains

Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215685

Predicted Effect

probably benign
Transcript: ENSMUST00000161703

SMART Domains

Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
LDLa	307	342	2.09e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216960

Predicted Effect

probably benign
Transcript: ENSMUST00000216511

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Heterozygotes for a knock-in mutation show features of late-onset retinal degeneration, whereas hetero- or homozygotes for the same knock-in generated by a different group lack retinal defects. Homozygous null mice exhibit reduced hepatic steatosis and improved insulin action on a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,941,829 (GRCm39)		probably null	Het
Abca5	T	A	11: 110,166,156 (GRCm39)	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,179,562 (GRCm39)		probably null	Het
Aldh2	T	C	5: 121,713,960 (GRCm39)	E128G	probably null	Het
Anln	A	G	9: 22,279,708 (GRCm39)	V494A	probably benign	Het
Ano3	A	T	2: 110,715,288 (GRCm39)	L50*	probably null	Het
Atp13a3	A	G	16: 30,169,902 (GRCm39)	I392T	probably damaging	Het
Cacna1s	A	T	1: 136,020,990 (GRCm39)		probably benign	Het
Ccdc150	G	A	1: 54,311,680 (GRCm39)	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,807,003 (GRCm39)	I9N	probably damaging	Het
Cmip	A	T	8: 118,137,994 (GRCm39)		probably benign	Het
Cyp21a1	A	G	17: 35,023,196 (GRCm39)	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,278,121 (GRCm39)	W10R	possibly damaging	Het
Dock10	A	G	1: 80,483,378 (GRCm39)	Y2076H	probably damaging	Het
Dpcd	G	T	19: 45,565,493 (GRCm39)	A156S	probably benign	Het
Egflam	T	C	15: 7,263,706 (GRCm39)	N748S	probably benign	Het
Fam227b	A	G	2: 125,988,174 (GRCm39)		probably benign	Het
Fancd2	T	A	6: 113,540,073 (GRCm39)	I654N	probably damaging	Het
Hpf1	A	G	8: 61,349,836 (GRCm39)	I155V	probably benign	Het
Hrh1	C	A	6: 114,457,404 (GRCm39)	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,675,474 (GRCm39)	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,009,267 (GRCm39)	F734L	probably benign	Het
Kif5a	T	C	10: 127,079,370 (GRCm39)	Y276C	probably damaging	Het
Lax1	A	T	1: 133,608,208 (GRCm39)	S178T	possibly damaging	Het
Marchf6	C	T	15: 31,509,905 (GRCm39)	C28Y	probably damaging	Het
Mylk3	T	C	8: 86,081,931 (GRCm39)	T356A	probably benign	Het
Obscn	T	C	11: 58,891,853 (GRCm39)	E6893G	probably benign	Het
Or2l13	T	C	16: 19,305,927 (GRCm39)	L113P	probably damaging	Het
Pate7	A	T	9: 35,689,180 (GRCm39)	M1K	probably null	Het
Pgap2	G	T	7: 101,885,346 (GRCm39)	V71F	probably damaging	Het
Prob1	T	G	18: 35,785,893 (GRCm39)	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,475,691 (GRCm39)	D430E	probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,803 (GRCm39)		probably benign	Het
Sgsm2	G	T	11: 74,782,900 (GRCm39)		probably benign	Het
Slc38a9	A	G	13: 112,826,720 (GRCm39)	I153V	probably benign	Het
Slco1b2	T	A	6: 141,631,251 (GRCm39)	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,362,727 (GRCm39)	S145P	probably benign	Het
Sv2b	T	C	7: 74,786,197 (GRCm39)	T408A	probably benign	Het
Usp24	T	C	4: 106,261,122 (GRCm39)	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,939,043 (GRCm39)	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,504,084 (GRCm39)	V155M	probably damaging	Het
Wsb1	G	A	11: 79,141,838 (GRCm39)	L60F	probably damaging	Het
Wwp2	C	T	8: 108,267,278 (GRCm39)	R297*	probably null	Het
Xkr6	T	C	14: 64,057,156 (GRCm39)	Y356H	unknown	Het

Other mutations in C1qtnf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02359:C1qtnf5	APN	9	44,019,631 (GRCm39)	missense	possibly damaging	0.48
IGL02420:C1qtnf5	APN	9	44,019,901 (GRCm39)	missense	probably benign	0.00
R1974:C1qtnf5	UTSW	9	44,020,072 (GRCm39)	missense	probably damaging	0.98
R6158:C1qtnf5	UTSW	9	44,020,267 (GRCm39)	unclassified	probably benign
R8422:C1qtnf5	UTSW	9	44,019,961 (GRCm39)	missense	possibly damaging	0.92
X0065:C1qtnf5	UTSW	9	44,019,646 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16