Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:C1qtnf2'

554569

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf2

Ensembl Gene

ENSMUSG00000046491

Gene Name

C1q and tumor necrosis factor related protein 2

Synonyms

1810033K05Rik, CTRP2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43474276-43491525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43491195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 248 (L248Q)

Ref Sequence

ENSEMBL: ENSMUSP00000051652 (fasta)

Gene Model

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

AlphaFold

Q9D8U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057679
AA Change: L248Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: L248Q

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: L278Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: L278Q

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: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905	I202N	probably benign	Het
Casp1	A	T	9: 5,306,135	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671	T161A		Het
Hspg2	T	C	4: 137,550,373	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792		probably null	Het
Klrd1	A	G	6: 129,596,707	T120A	unknown	Het
Lfng	A	G	5: 140,612,528	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309	T360A	probably damaging	Het
Olfr1231	T	C	2: 89,303,383	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829	Q420R		Het
Prl7d1	A	T	13: 27,714,337	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958	V166A		Het
Robo4	T	C	9: 37,411,391	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023	S1557P	probably damaging	Het
Syt6	C	T	3: 103,575,453	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663	I6K	probably benign	Het

Other mutations in C1qtnf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00266:C1qtnf2	APN	11	43485999	missense	possibly damaging	0.93
IGL03178:C1qtnf2	APN	11	43490989	missense	probably damaging	0.98
R0226:C1qtnf2	UTSW	11	43490843	missense	probably benign
R1412:C1qtnf2	UTSW	11	43491132	missense	probably damaging	1.00
R1796:C1qtnf2	UTSW	11	43491287	missense	probably damaging	1.00
R2145:C1qtnf2	UTSW	11	43490984	missense	probably damaging	1.00
R2504:C1qtnf2	UTSW	11	43491156	missense	probably damaging	1.00
R3829:C1qtnf2	UTSW	11	43491321	missense	probably benign
R5106:C1qtnf2	UTSW	11	43486053	missense	possibly damaging	0.71
R5547:C1qtnf2	UTSW	11	43490967	missense	probably damaging	1.00
R5879:C1qtnf2	UTSW	11	43486008	missense	probably damaging	0.99
R8138:C1qtnf2	UTSW	11	43486011	missense	probably damaging	1.00
R8218:C1qtnf2	UTSW	11	43490948	missense	possibly damaging	0.87
R9184:C1qtnf2	UTSW	11	43474353	missense	probably benign
R9444:C1qtnf2	UTSW	11	43485834	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGGCAAGTTCGTCTGCAG -3'
(R):5'- AAGATTGTCAGTCCACAGCCC -3'

Sequencing Primer
(F):5'- AGCGTGCCGGGGATCTATTAC -3'
(R):5'- AGGGATCTTCCTCCAGGCAC -3'

Posted On

2019-06-07