Mutagenetix > Incidental Mutation

Incidental Mutation 'R5547:C1qtnf2'

436356

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf2

Ensembl Gene

ENSMUSG00000046491

Gene Name

C1q and tumor necrosis factor related protein 2

Synonyms

CTRP2, 1810033K05Rik

MMRRC Submission

043105-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43365103-43382352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43381794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000134705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057679] [ENSMUST00000151912] [ENSMUST00000173002]

AlphaFold

Q9D8U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057679
AA Change: E172G

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

SMART Domains

Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: E172G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Collagen	46	104	1.2e-10	PFAM
Pfam:Collagen	90	151	2.1e-11	PFAM
C1Q	152	287	3.96e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151912

SMART Domains

Protein: ENSMUSP00000133616
Gene: ENSMUSG00000046491

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Collagen	46	103	6.8e-11	PFAM
Pfam:Collagen	79	137	3.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173002
AA Change: E202G

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

SMART Domains

Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: E202G

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
Pfam:Collagen	76	135	7.4e-11	PFAM
Pfam:Collagen	121	181	1.9e-11	PFAM
C1Q	182	317	3.96e-46	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,661,356 (GRCm39)	S492P	probably damaging	Het
Arfgef1	A	T	1: 10,231,201 (GRCm39)	D1133E	probably damaging	Het
Avpi1	T	C	19: 42,113,382 (GRCm39)	K25R	probably damaging	Het
Bank1	T	C	3: 135,772,110 (GRCm39)	S708G	probably damaging	Het
C6	T	A	15: 4,837,970 (GRCm39)	V860E	probably benign	Het
Cbr1	T	A	16: 93,406,698 (GRCm39)	V138E	probably damaging	Het
Cdip1	A	G	16: 4,587,988 (GRCm39)	S2P	probably damaging	Het
Cep126	T	C	9: 8,100,428 (GRCm39)	N702S	probably damaging	Het
Chek1	T	C	9: 36,623,400 (GRCm39)	I381V	probably benign	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cryz	C	T	3: 154,317,194 (GRCm39)	R138*	probably null	Het
Ctsll3	T	A	13: 60,948,551 (GRCm39)	M103L	probably benign	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Daxx	CGATGATGATGA	CGA	17: 34,131,633 (GRCm39)		probably benign	Het
Dsg1a	T	G	18: 20,469,097 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Flt1	T	A	5: 147,591,948 (GRCm39)	S505C	probably damaging	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
H2-T15	G	A	17: 36,368,796 (GRCm39)	H95Y	possibly damaging	Het
Hmcn1	A	G	1: 150,613,257 (GRCm39)	V1390A	possibly damaging	Het
Ifi44l	C	T	3: 151,467,142 (GRCm39)	V63I	unknown	Het
Klhl3	C	T	13: 58,250,243 (GRCm39)		probably null	Het
Lekr1	T	A	3: 65,576,601 (GRCm39)		probably null	Het
Lhx5	A	G	5: 120,572,675 (GRCm39)	Q98R	probably benign	Het
Nuggc	A	G	14: 65,879,330 (GRCm39)	K681E	possibly damaging	Het
Numa1	G	T	7: 101,663,137 (GRCm39)	A735S	probably damaging	Het
Oog3	A	T	4: 143,884,598 (GRCm39)	L446Q	probably benign	Het
Or5ac19	G	A	16: 59,089,479 (GRCm39)	L184F	probably benign	Het
Otogl	C	T	10: 107,617,909 (GRCm39)	E1735K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,488 (GRCm39)	D119G	probably benign	Het
Pgpep1	T	C	8: 71,105,069 (GRCm39)	K64E	probably benign	Het
Prr19	A	C	7: 25,003,388 (GRCm39)	D334A	probably damaging	Het
Ptprh	G	T	7: 4,557,221 (GRCm39)	S691*	probably null	Het
Recql4	G	A	15: 76,589,994 (GRCm39)	R684*	probably null	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rnf40	T	C	7: 127,188,302 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Tbc1d1	A	G	5: 64,481,887 (GRCm39)	D696G	possibly damaging	Het
Tdo2	T	C	3: 81,866,247 (GRCm39)	R339G	probably damaging	Het
Tmem245	C	T	4: 56,910,156 (GRCm39)		probably null	Het
Trim24	A	G	6: 37,942,485 (GRCm39)	E965G	probably damaging	Het
Trmt112	T	C	19: 6,888,156 (GRCm39)	S103P	probably damaging	Het
Trpv6	A	T	6: 41,613,088 (GRCm39)	V26D	possibly damaging	Het
Zfp850	A	G	7: 27,688,844 (GRCm39)	C455R	probably damaging	Het
Zfp946	T	C	17: 22,673,873 (GRCm39)	I209T	probably benign	Het
Zfp957	T	C	14: 79,451,406 (GRCm39)	N131S	probably benign	Het

Other mutations in C1qtnf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00266:C1qtnf2	APN	11	43,376,826 (GRCm39)	missense	possibly damaging	0.93
IGL03178:C1qtnf2	APN	11	43,381,816 (GRCm39)	missense	probably damaging	0.98
PIT4305001:C1qtnf2	UTSW	11	43,382,022 (GRCm39)	missense	probably damaging	1.00
R0226:C1qtnf2	UTSW	11	43,381,670 (GRCm39)	missense	probably benign
R1412:C1qtnf2	UTSW	11	43,381,959 (GRCm39)	missense	probably damaging	1.00
R1796:C1qtnf2	UTSW	11	43,382,114 (GRCm39)	missense	probably damaging	1.00
R2145:C1qtnf2	UTSW	11	43,381,811 (GRCm39)	missense	probably damaging	1.00
R2504:C1qtnf2	UTSW	11	43,381,983 (GRCm39)	missense	probably damaging	1.00
R3829:C1qtnf2	UTSW	11	43,382,148 (GRCm39)	missense	probably benign
R5106:C1qtnf2	UTSW	11	43,376,880 (GRCm39)	missense	possibly damaging	0.71
R5879:C1qtnf2	UTSW	11	43,376,835 (GRCm39)	missense	probably damaging	0.99
R8138:C1qtnf2	UTSW	11	43,376,838 (GRCm39)	missense	probably damaging	1.00
R8218:C1qtnf2	UTSW	11	43,381,775 (GRCm39)	missense	possibly damaging	0.87
R9184:C1qtnf2	UTSW	11	43,365,180 (GRCm39)	missense	probably benign
R9444:C1qtnf2	UTSW	11	43,376,661 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTCTGTGTTCCAGGTCCAC -3'
(R):5'- GGCATCAAAAGTCCGAATGC -3'

Sequencing Primer
(F):5'- GCAAAGCTGGGGCCATTG -3'
(R):5'- AGTAATAGATCCCCGGCA -3'

Posted On

2016-10-24