Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:C2cd6'

536698

Institutional Source

Beutler Lab

Gene Symbol

C2cd6

Ensembl Gene

ENSMUSG00000072295

Gene Name

C2 calcium dependent domain containing 6

Synonyms

Als2cr11, C2cd6b, Gm33589, 1700052H20Rik, Als2cr11b, 4930408G06Rik

MMRRC Submission

044977-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59036275-59134059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59105318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 320 (D320G)

Ref Sequence

ENSEMBL: ENSMUSP00000094845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097080]

AlphaFold

A0A5F8MPU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000097080
AA Change: D320G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: D320G

Domain	Start	End	E-Value	Type
low complexity region	99	126	N/A	INTRINSIC
Pfam:ALS2CR11	128	533	1.2e-180	PFAM

Meta Mutation Damage Score

0.3119

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	Het

Other mutations in C2cd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:C2cd6	APN	1	59,117,104 (GRCm39)	missense	probably damaging	0.97
IGL01012:C2cd6	APN	1	59,036,507 (GRCm39)	unclassified	probably benign
IGL01682:C2cd6	APN	1	59,101,660 (GRCm39)	missense	probably damaging	1.00
IGL01834:C2cd6	APN	1	59,036,604 (GRCm39)	unclassified	probably benign
IGL01982:C2cd6	APN	1	59,106,932 (GRCm39)	splice site	probably benign
IGL02027:C2cd6	APN	1	59,099,763 (GRCm39)	missense	probably benign	0.12
IGL02069:C2cd6	APN	1	59,091,700 (GRCm39)	splice site	probably benign
IGL02232:C2cd6	APN	1	59,101,651 (GRCm39)	missense	probably damaging	0.99
IGL02280:C2cd6	APN	1	59,117,040 (GRCm39)	critical splice donor site	probably null
IGL02392:C2cd6	APN	1	59,133,997 (GRCm39)	missense	probably benign	0.00
IGL02440:C2cd6	APN	1	59,114,259 (GRCm39)	missense	probably benign	0.14
IGL02469:C2cd6	APN	1	59,036,640 (GRCm39)	unclassified	probably benign
IGL02660:C2cd6	APN	1	59,090,389 (GRCm39)	missense	probably damaging	1.00
IGL02720:C2cd6	APN	1	59,090,307 (GRCm39)	missense	probably damaging	0.98
IGL03340:C2cd6	APN	1	59,115,830 (GRCm39)	missense	probably benign	0.07
R1472:C2cd6	UTSW	1	59,106,944 (GRCm39)	missense	possibly damaging	0.92
R1476:C2cd6	UTSW	1	59,115,887 (GRCm39)	splice site	probably benign
R1753:C2cd6	UTSW	1	59,133,992 (GRCm39)	missense	possibly damaging	0.53
R2009:C2cd6	UTSW	1	59,042,391 (GRCm39)	exon	noncoding transcript
R3724:C2cd6	UTSW	1	59,105,394 (GRCm39)	splice site	probably benign
R4887:C2cd6	UTSW	1	59,133,893 (GRCm39)	missense	probably benign	0.00
R5115:C2cd6	UTSW	1	59,090,420 (GRCm39)	missense	probably benign	0.12
R5335:C2cd6	UTSW	1	59,043,393 (GRCm39)	unclassified	noncoding transcript
R6406:C2cd6	UTSW	1	59,097,835 (GRCm39)	missense	possibly damaging	0.60
R6467:C2cd6	UTSW	1	59,117,093 (GRCm39)	missense	probably benign	0.01
R6697:C2cd6	UTSW	1	59,090,247 (GRCm39)	small deletion	probably benign
R6801:C2cd6	UTSW	1	59,133,742 (GRCm39)	frame shift	probably null
R7468:C2cd6	UTSW	1	59,107,844 (GRCm39)	missense	probably benign
R7821:C2cd6	UTSW	1	59,106,951 (GRCm39)	nonsense	probably null
R8338:C2cd6	UTSW	1	59,099,734 (GRCm39)	missense	probably benign	0.00
R8368:C2cd6	UTSW	1	59,133,820 (GRCm39)	missense	probably benign	0.33
R8768:C2cd6	UTSW	1	59,105,312 (GRCm39)	missense	probably benign	0.40
R8774:C2cd6	UTSW	1	59,099,825 (GRCm39)	missense	possibly damaging	0.82
R8774-TAIL:C2cd6	UTSW	1	59,099,825 (GRCm39)	missense	possibly damaging	0.82
R8970:C2cd6	UTSW	1	59,108,895 (GRCm39)	missense	possibly damaging	0.93
R9617:C2cd6	UTSW	1	59,097,848 (GRCm39)	missense	probably benign	0.40
R9700:C2cd6	UTSW	1	59,117,089 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTGACACCTAGAAACTCAG -3'
(R):5'- TCACTTAAGGACCCTATAGGCC -3'

Sequencing Primer
(F):5'- CTCCCAAGTGTTGAGGTTACAGAC -3'
(R):5'- ACTTAAGGACCCTATAGGCCTTTGG -3'

Posted On

2018-10-18