Mutagenetix > Incidental Mutation

Incidental Mutation 'R6407:C1ql2'

514480

Institutional Source

Beutler Lab

Gene Symbol

C1ql2

Ensembl Gene

ENSMUSG00000036907

Gene Name

complement component 1, q subcomponent-like 2

Synonyms

CTRP10

MMRRC Submission

044552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6407 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120268312-120270903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120269340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 165 (L165P)

Ref Sequence

ENSEMBL: ENSMUSP00000037257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037286]

AlphaFold

Q8CFR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037286
AA Change: L165P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037257
Gene: ENSMUSG00000036907
AA Change: L165P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	76	110	N/A	INTRINSIC
low complexity region	122	147	N/A	INTRINSIC
C1Q	152	287	5.84e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,422,809 (GRCm39)	Y1963C	probably benign	Het
Bptf	T	A	11: 107,001,952 (GRCm39)	N387Y	probably damaging	Het
Col5a2	C	A	1: 45,415,938 (GRCm39)	C1403F	probably damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Htr3a	G	T	9: 48,812,355 (GRCm39)	Y250*	probably null	Het
Ighg2c	T	C	12: 113,252,271 (GRCm39)	K94E	unknown	Het
Ighg3	T	C	12: 113,323,770 (GRCm39)	N206S	unknown	Het
Il36rn	A	G	2: 24,171,365 (GRCm39)	Y151C	probably damaging	Het
Kif22	G	A	7: 126,632,375 (GRCm39)	R312C	probably damaging	Het
Lap3	T	A	5: 45,669,267 (GRCm39)	V472E	probably damaging	Het
Mast3	T	C	8: 71,234,772 (GRCm39)	T762A	probably benign	Het
Mfsd12	T	C	10: 81,198,067 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,529,273 (GRCm39)	K123R	probably benign	Het
Mup8	T	A	4: 60,220,394 (GRCm39)	T113S	possibly damaging	Het
Nhp2	T	C	11: 51,510,730 (GRCm39)	V29A	probably benign	Het
Or14a260	T	C	7: 85,985,277 (GRCm39)	E109G	possibly damaging	Het
Pex3	T	C	10: 13,422,112 (GRCm39)	R63G	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Rims2	T	C	15: 39,315,724 (GRCm39)	S617P	probably damaging	Het
Rnf223	A	T	4: 156,216,816 (GRCm39)	T64S	probably damaging	Het
Rrp12	C	T	19: 41,872,181 (GRCm39)	V432M	probably damaging	Het
Sag	T	C	1: 87,742,528 (GRCm39)	V100A	probably benign	Het
Slc17a7	C	T	7: 44,819,350 (GRCm39)	A167V	probably benign	Het
Slc38a6	T	C	12: 73,356,949 (GRCm39)	F115S	probably damaging	Het
Spata31h1	A	G	10: 82,129,645 (GRCm39)	S1122P	probably benign	Het
Spdye4a	T	C	5: 143,211,454 (GRCm39)	T37A	probably benign	Het
Sphk2	T	C	7: 45,362,024 (GRCm39)	T138A	possibly damaging	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Sult1a1	T	C	7: 126,272,356 (GRCm39)		probably null	Het
Tmem212	A	G	3: 27,938,988 (GRCm39)	V166A	probably benign	Het
Tor4a	A	G	2: 25,084,952 (GRCm39)	L317P	probably benign	Het
Trim43c	A	T	9: 88,722,467 (GRCm39)	T38S	probably benign	Het
Tshz1	C	A	18: 84,034,091 (GRCm39)	V106F	possibly damaging	Het
Tut4	G	T	4: 108,415,979 (GRCm39)	E1648D	probably damaging	Het
Yap1	A	G	9: 7,962,373 (GRCm39)	M225T	possibly damaging	Het
Zfp74	T	C	7: 29,635,048 (GRCm39)	E220G	probably damaging	Het

Other mutations in C1ql2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:C1ql2	APN	1	120,269,399 (GRCm39)	missense	probably damaging	1.00
R1144:C1ql2	UTSW	1	120,270,266 (GRCm39)	missense	probably damaging	1.00
R1705:C1ql2	UTSW	1	120,270,271 (GRCm39)	missense	probably damaging	1.00
R4487:C1ql2	UTSW	1	120,269,409 (GRCm39)	missense	possibly damaging	0.60
R6063:C1ql2	UTSW	1	120,269,321 (GRCm39)	missense	probably benign	0.15
R6965:C1ql2	UTSW	1	120,268,944 (GRCm39)	missense	probably damaging	0.98
Z1176:C1ql2	UTSW	1	120,269,353 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- CGTTTATCCAGGGACCAAAGGG -3'
(R):5'- GAGAAAGTCACTGACCTGCC -3'

Sequencing Primer
(F):5'- CCAAAGGGTGATCCGGGG -3'
(R):5'- CGTTCTTGCAGAGATCCGC -3'

Posted On

2018-05-04