Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Ccdc121rt2'

651725

Institutional Source

Beutler Lab

Gene Symbol

Ccdc121rt2

Ensembl Gene

ENSMUSG00000072722

Gene Name

coiled-coil domain containing 121, retrogene 2

Synonyms

Gm6588

MMRRC Submission

046032-MU

Accession Numbers

Essential gene?

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

Stock #

R7991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112597292-112599604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112598791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 446 (R446H)

Ref Sequence

ENSEMBL: ENSMUSP00000098441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075387] [ENSMUST00000079491] [ENSMUST00000100882] [ENSMUST00000197425] [ENSMUST00000212480] [ENSMUST00000212758]

AlphaFold

E9Q3K0

Predicted Effect

probably benign
Transcript: ENSMUST00000075387

SMART Domains

Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	880	891	N/A	INTRINSIC
transmembrane domain	895	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079491

SMART Domains

Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
CCP	813	870	8.04e-15	SMART
low complexity region	878	892	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100882
AA Change: R446H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098441
Gene: ENSMUSG00000072722
AA Change: R446H

Domain	Start	End	E-Value	Type
coiled coil region	159	180	N/A	INTRINSIC
Pfam:DUF4515	194	399	9.5e-82	PFAM
low complexity region	403	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197425

SMART Domains

Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
CUB	221	329	3.62e-8	SMART
CCP	333	388	1.01e-11	SMART
CUB	392	502	3.75e-15	SMART
CCP	507	564	1.41e-10	SMART
CUB	568	679	4.87e-23	SMART
CCP	685	740	4.95e-15	SMART
CCP	746	805	3.07e-11	SMART
low complexity region	815	826	N/A	INTRINSIC
transmembrane domain	830	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200575

Predicted Effect

probably benign
Transcript: ENSMUST00000212480

Predicted Effect

probably benign
Transcript: ENSMUST00000212758

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,726 (GRCm39)	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,172,537 (GRCm39)	L624P	probably damaging	Het
Akap9	A	G	5: 4,114,949 (GRCm39)		probably null	Het
Ap2a2	A	G	7: 141,189,760 (GRCm39)	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,534,531 (GRCm39)	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,693,257 (GRCm39)	S53P	probably damaging	Het
Caly	T	C	7: 139,651,513 (GRCm39)	D116G	possibly damaging	Het
Ccdc168	T	A	1: 44,098,869 (GRCm39)	H743L	probably benign	Het
Ccdc81	G	A	7: 89,539,609 (GRCm39)	A209V	probably benign	Het
Cdc14a	A	G	3: 116,101,887 (GRCm39)	S347P	probably benign	Het
Cdh9	G	T	15: 16,828,489 (GRCm39)	A194S	probably damaging	Het
Clca3a2	A	G	3: 144,519,756 (GRCm39)	V206A	probably benign	Het
Clca4a	A	T	3: 144,658,500 (GRCm39)	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,746,485 (GRCm39)	E282G	probably damaging	Het
Cmtm2b	T	A	8: 105,056,419 (GRCm39)	C109*	probably null	Het
Crtac1	T	C	19: 42,322,399 (GRCm39)	N114D	probably benign	Het
Dennd1b	T	C	1: 139,013,634 (GRCm39)	Y168H		Het
Dock6	T	C	9: 21,757,858 (GRCm39)	D82G	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Erfl	G	A	7: 24,627,975 (GRCm39)	P185S	possibly damaging	Het
Fh1	T	C	1: 175,437,337 (GRCm39)	Y254C	probably damaging	Het
H2-Q1	T	A	17: 35,540,356 (GRCm39)	L147Q	probably damaging	Het
H3c8	T	A	13: 23,719,887 (GRCm39)	M91K	probably benign	Het
Hnrnpu	A	T	1: 178,159,871 (GRCm39)	D403E	unknown	Het
Il34	T	C	8: 111,476,122 (GRCm39)	K33E	probably benign	Het
Klhl20	A	G	1: 160,934,434 (GRCm39)	V195A	possibly damaging	Het
Lair1	G	T	7: 4,031,969 (GRCm39)	T46N	probably damaging	Het
Lama4	A	G	10: 38,921,805 (GRCm39)	E442G	possibly damaging	Het
Lifr	A	T	15: 7,202,963 (GRCm39)	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,908,771 (GRCm39)	I14T	probably benign	Het
Or13p10	T	A	4: 118,523,489 (GRCm39)	C258*	probably null	Het
Or1ad8	T	G	11: 50,898,071 (GRCm39)	S91A	possibly damaging	Het
Or4z4	A	C	19: 12,076,190 (GRCm39)	V271G	possibly damaging	Het
Or51h7	A	G	7: 102,591,760 (GRCm39)	L8P	probably benign	Het
Or5an10	T	A	19: 12,275,639 (GRCm39)	I286F	probably damaging	Het
Or8s10	T	C	15: 98,335,419 (GRCm39)	I23T	probably benign	Het
Papss2	G	T	19: 32,629,403 (GRCm39)	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,145,909 (GRCm39)	S667P	probably damaging	Het
Pcolce	A	T	5: 137,607,390 (GRCm39)	S75T	probably benign	Het
Phf20l1	A	C	15: 66,502,768 (GRCm39)	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,791,595 (GRCm39)	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,618,152 (GRCm39)	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,509,750 (GRCm39)	Y195C	probably benign	Het
Pramel6	T	A	2: 87,340,031 (GRCm39)	L265Q	probably benign	Het
Prc1	A	T	7: 79,961,969 (GRCm39)	N489I	possibly damaging	Het
Prss59	A	C	6: 40,905,444 (GRCm39)		probably null	Het
Psg22	A	C	7: 18,460,861 (GRCm39)	N497H	probably damaging	Het
Pum3	T	A	19: 27,389,620 (GRCm39)	I411F	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	A	T	10: 39,739,734 (GRCm39)	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,310,540 (GRCm39)	K423N		Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Septin3	A	G	15: 82,170,654 (GRCm39)	E216G	probably benign	Het
Sppl2c	T	C	11: 104,078,640 (GRCm39)	V480A	possibly damaging	Het
Sppl2c	A	G	11: 104,078,189 (GRCm39)	T330A	probably benign	Het
Srebf2	A	G	15: 82,088,253 (GRCm39)	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,845,715 (GRCm39)	E61V	probably damaging	Het
Tnc	T	A	4: 63,926,983 (GRCm39)	T848S	probably benign	Het
Trmt5	A	G	12: 73,329,439 (GRCm39)	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,132,583 (GRCm39)	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646 (GRCm39)	T59A	unknown	Het
Ubash3a	T	A	17: 31,456,869 (GRCm39)	L510M	probably benign	Het
Ubr3	T	A	2: 69,783,200 (GRCm39)	I713N	probably damaging	Het
Upf3a	A	G	8: 13,842,166 (GRCm39)	E194G	probably damaging	Het
Usp22	A	T	11: 61,065,588 (GRCm39)	Y42N	probably benign	Het
Vav3	T	A	3: 109,470,478 (GRCm39)	C555S	probably damaging	Het
Vmn1r210	T	A	13: 23,011,684 (GRCm39)	M201L	probably benign	Het
Wdr64	C	A	1: 175,554,051 (GRCm39)	Q194K	probably benign	Het

Other mutations in Ccdc121rt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Ccdc121rt2	APN	5	112,597,600 (GRCm39)	missense	probably benign	0.22
R0785:Ccdc121rt2	UTSW	5	112,598,434 (GRCm39)	missense	probably benign	0.00
R1938:Ccdc121rt2	UTSW	5	112,597,667 (GRCm39)	nonsense	probably null
R2047:Ccdc121rt2	UTSW	5	112,598,575 (GRCm39)	missense	probably benign	0.00
R4116:Ccdc121rt2	UTSW	5	112,598,377 (GRCm39)	missense	probably damaging	0.98
R4608:Ccdc121rt2	UTSW	5	112,597,764 (GRCm39)	missense	possibly damaging	0.85
R4841:Ccdc121rt2	UTSW	5	112,598,106 (GRCm39)	nonsense	probably null
R4842:Ccdc121rt2	UTSW	5	112,598,106 (GRCm39)	nonsense	probably null
R6301:Ccdc121rt2	UTSW	5	112,598,334 (GRCm39)	missense	possibly damaging	0.47
R6418:Ccdc121rt2	UTSW	5	112,598,019 (GRCm39)	missense	probably benign	0.05
R7395:Ccdc121rt2	UTSW	5	112,598,035 (GRCm39)	missense	possibly damaging	0.93
R7799:Ccdc121rt2	UTSW	5	112,597,698 (GRCm39)	missense	not run
R8188:Ccdc121rt2	UTSW	5	112,597,993 (GRCm39)	missense	possibly damaging	0.62
R8343:Ccdc121rt2	UTSW	5	112,598,653 (GRCm39)	missense	probably benign	0.01
R8773:Ccdc121rt2	UTSW	5	112,597,681 (GRCm39)	missense	probably benign	0.00
R8966:Ccdc121rt2	UTSW	5	112,598,103 (GRCm39)	missense	probably damaging	0.99
R9089:Ccdc121rt2	UTSW	5	112,598,757 (GRCm39)	missense	probably damaging	0.97
RF013:Ccdc121rt2	UTSW	5	112,597,937 (GRCm39)	missense	probably benign	0.00
X0062:Ccdc121rt2	UTSW	5	112,598,445 (GRCm39)	missense	probably benign	0.01
Z1176:Ccdc121rt2	UTSW	5	112,597,741 (GRCm39)	missense	probably benign
Z1177:Ccdc121rt2	UTSW	5	112,598,827 (GRCm39)	frame shift	probably null
Z1177:Ccdc121rt2	UTSW	5	112,597,872 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTTTGCAACCTGGAGGATAGG -3'
(R):5'- CCTTCTAGCTACTGTGTGGGAG -3'

Sequencing Primer
(F):5'- CTGGAACGGAGAAAGCAGC -3'
(R):5'- CTTCTAGCTACTGTGTGGGAGACAAG -3'

Posted On

2020-09-15