Mutagenetix > Incidental Mutation

Incidental Mutation 'R4487:C1ql2'

331645

Institutional Source

Beutler Lab

Gene Symbol

C1ql2

Ensembl Gene

ENSMUSG00000036907

Gene Name

complement component 1, q subcomponent-like 2

Synonyms

CTRP10

MMRRC Submission

041743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4487 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120268312-120270903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120269409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 188 (Y188F)

Ref Sequence

ENSEMBL: ENSMUSP00000037257 (fasta)

Gene Model

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

AlphaFold

Q8CFR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037286
AA Change: Y188F

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037257
Gene: ENSMUSG00000036907
AA Change: Y188F

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

Meta Mutation Damage Score

0.4846

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,651,931 (GRCm39)	L99P	probably damaging	Het
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Adgrv1	A	G	13: 81,588,185 (GRCm39)	I4467T	probably damaging	Het
Ash1l	T	A	3: 88,892,622 (GRCm39)	D1500E	possibly damaging	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Crybg2	T	C	4: 133,801,512 (GRCm39)	S891P	probably benign	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Htr1b	A	T	9: 81,513,592 (GRCm39)	D338E	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif9	A	G	9: 110,323,552 (GRCm39)	E225G	probably null	Het
Krt76	T	C	15: 101,798,917 (GRCm39)	K256R	possibly damaging	Het
Mapk4	T	C	18: 74,064,046 (GRCm39)	D392G	probably damaging	Het
Mthfr	A	G	4: 148,135,884 (GRCm39)	K278R	probably benign	Het
Mup4	T	A	4: 59,960,547 (GRCm39)	E18V	probably damaging	Het
Nepro	A	G	16: 44,556,089 (GRCm39)	K416E	probably damaging	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nmu	A	G	5: 76,491,909 (GRCm39)		probably null	Het
Nt5m	A	G	11: 59,739,173 (GRCm39)	Y73C	probably damaging	Het
Oaz3	A	T	3: 94,342,437 (GRCm39)		probably null	Het
Pgap1	A	G	1: 54,567,751 (GRCm39)	S365P	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pus7l	A	G	15: 94,429,498 (GRCm39)	I440T	possibly damaging	Het
Raph1	C	T	1: 60,542,028 (GRCm39)	S362N	possibly damaging	Het
Rftn2	A	G	1: 55,241,311 (GRCm39)	Y330H	possibly damaging	Het
Rhot2	G	A	17: 26,058,467 (GRCm39)	H580Y	probably benign	Het
Rnase2a	A	T	14: 51,493,302 (GRCm39)	M21K	unknown	Het
Rusf1	T	C	7: 127,887,530 (GRCm39)	D24G	probably damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Snx1	A	T	9: 65,996,877 (GRCm39)	V459E	possibly damaging	Het
Suz12	A	G	11: 79,922,939 (GRCm39)	T694A	probably benign	Het
Tg	G	A	15: 66,543,245 (GRCm39)	C53Y	probably damaging	Het
Tor1aip1	G	T	1: 155,882,870 (GRCm39)	T326K	probably damaging	Het
Vmn1r61	C	A	7: 5,613,924 (GRCm39)	C130F	possibly damaging	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	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
R6063:C1ql2	UTSW	1	120,269,321 (GRCm39)	missense	probably benign	0.15
R6407:C1ql2	UTSW	1	120,269,340 (GRCm39)	missense	probably damaging	1.00
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'- ACTGCAGTTGACAACCAGCG -3'
(R):5'- TAATGAACGGTCTGCGGAC -3'

Sequencing Primer
(F):5'- CCGGTGGCGTTGGAGTG -3'
(R):5'- ACTCTGTTGGGCCGGGAAAG -3'

Posted On

2015-07-21