Mutagenetix > Incidental Mutation

Incidental Mutation 'R8422:C1qtnf5'

653260

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf5

Ensembl Gene

ENSMUSG00000079592

Gene Name

C1q and tumor necrosis factor related protein 5

Synonyms

CTRP5

MMRRC Submission

067817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8422 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44018542-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44019961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 195 (A195E)

Ref Sequence

ENSEMBL: ENSMUSP00000110463 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000114815
AA Change: A195E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592
AA Change: A195E

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

possibly damaging
Transcript: ENSMUST00000114816
AA Change: A195E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592
AA Change: A195E

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

possibly damaging
Transcript: ENSMUST00000114818
AA Change: A195E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592
AA Change: A195E

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

possibly damaging
Transcript: ENSMUST00000114821
AA Change: A195E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592
AA Change: A195E

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

probably benign
Transcript: ENSMUST00000152956

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

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: 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: 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: 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

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: 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: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206308

Predicted Effect

probably benign
Transcript: ENSMUST00000206722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206769
AA Change: A107E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215685

Predicted Effect

probably benign
Transcript: ENSMUST00000216511

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,384,254 (GRCm39)	S570R	possibly damaging	Het
4921517D22Rik	T	C	13: 59,839,443 (GRCm39)	M1V	probably null	Het
4921524J17Rik	T	G	8: 86,138,918 (GRCm39)	K57T	possibly damaging	Het
4930596D02Rik	G	T	14: 35,532,009 (GRCm39)	Q189K	probably benign	Het
Anapc1	T	C	2: 128,517,757 (GRCm39)	T296A	probably benign	Het
Aqp7	T	A	4: 41,035,622 (GRCm39)	M78L	probably benign	Het
Calhm2	T	C	19: 47,121,579 (GRCm39)	I197V	probably benign	Het
Ccdc186	G	A	19: 56,801,617 (GRCm39)	L167F	probably benign	Het
Ccr3	T	C	9: 123,828,799 (GRCm39)	Y45H	probably damaging	Het
Cct3	G	C	3: 88,208,126 (GRCm39)	R38P	probably damaging	Het
Clstn2	T	C	9: 97,340,239 (GRCm39)	D711G	probably benign	Het
Dab2ip	T	A	2: 35,597,767 (GRCm39)	I157N	probably damaging	Het
Dchs2	T	C	3: 83,232,570 (GRCm39)	V2185A	probably benign	Het
Dis3l2	A	G	1: 86,782,099 (GRCm39)	T219A	probably benign	Het
F2rl3	G	T	8: 73,489,813 (GRCm39)	V347L	probably benign	Het
Fastkd1	A	G	2: 69,532,778 (GRCm39)	S530P	probably damaging	Het
Fgfr3	T	A	5: 33,892,249 (GRCm39)	Y689*	probably null	Het
Gm10521	A	G	1: 171,724,026 (GRCm39)	I112M	unknown	Het
Gm9736	C	A	10: 77,586,714 (GRCm39)	V159F	unknown	Het
Hba-x	A	T	11: 32,227,736 (GRCm39)	H88L	probably benign	Het
Il12rb2	A	T	6: 67,337,800 (GRCm39)	V27E	probably benign	Het
Imp4	G	T	1: 34,482,997 (GRCm39)	G196V	probably damaging	Het
Itga11	A	C	9: 62,674,960 (GRCm39)	I831L	probably benign	Het
Macf1	C	T	4: 123,303,279 (GRCm39)	V408I	possibly damaging	Het
Nedd4	T	A	9: 72,649,964 (GRCm39)	D771E	probably damaging	Het
Noc3l	T	C	19: 38,795,547 (GRCm39)	Y413C	probably benign	Het
Npas3	C	A	12: 54,115,292 (GRCm39)	T738K	probably benign	Het
Ntrk2	A	T	13: 59,133,715 (GRCm39)	D498V	probably damaging	Het
Nyap1	T	C	5: 137,734,083 (GRCm39)	T317A	probably benign	Het
Or10g7	T	C	9: 39,905,850 (GRCm39)	L248P	probably damaging	Het
Or14a256	T	A	7: 86,265,466 (GRCm39)	H129L	probably benign	Het
Or4c107	T	C	2: 88,789,341 (GRCm39)	M177T	probably benign	Het
Or5d47	T	A	2: 87,804,143 (GRCm39)	I289L	probably benign	Het
Pcdhb20	A	T	18: 37,637,849 (GRCm39)	D125V	probably damaging	Het
Phc3	G	A	3: 30,984,039 (GRCm39)	Q692*	probably null	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Ppp1r12a	T	A	10: 108,077,042 (GRCm39)	H339Q	probably benign	Het
Ppp1r3a	G	A	6: 14,718,434 (GRCm39)	Q827*	probably null	Het
Ptpra	T	A	2: 130,374,091 (GRCm39)	I265N	possibly damaging	Het
Rabggta	G	T	14: 55,955,915 (GRCm39)	H447Q	probably benign	Het
Ralgps1	T	C	2: 33,062,442 (GRCm39)	D277G	possibly damaging	Het
Riok3	A	T	18: 12,269,869 (GRCm39)	E100V	probably null	Het
Rtcb	C	T	10: 85,779,168 (GRCm39)	V362M	probably benign	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Slco6c1	T	C	1: 97,053,508 (GRCm39)	E131G	probably damaging	Het
Tanc2	A	G	11: 105,726,014 (GRCm39)	M393V	probably benign	Het
Tas2r136	A	T	6: 132,754,290 (GRCm39)	I279N	probably damaging	Het
Tbx3	G	T	5: 119,818,581 (GRCm39)	K405N	possibly damaging	Het
Thumpd2	A	T	17: 81,334,373 (GRCm39)	V405D	probably damaging	Het
Tlr12	A	G	4: 128,510,427 (GRCm39)	S608P	probably damaging	Het
Wfs1	T	C	5: 37,131,219 (GRCm39)	K165E	probably benign	Het
Zfp810	C	A	9: 22,194,518 (GRCm39)	E57*	probably null	Het

Other mutations in C1qtnf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02352:C1qtnf5	APN	9	44,019,631 (GRCm39)	missense	possibly damaging	0.48
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
X0065:C1qtnf5	UTSW	9	44,019,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAATGAGCAGGGCCATTACG -3'
(R):5'- GTTAGTGTCACACCCTCCAC -3'

Sequencing Primer
(F):5'- GACCCCACTACTGGCAAGTTC -3'
(R):5'- TCCACTGAGGAGCAAGTGC -3'

Posted On

2020-10-20