Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Cr1l'

24829

Institutional Source

Beutler Lab

Gene Symbol

Cr1l

Ensembl Gene

ENSMUSG00000016481

Gene Name

complement C3b/C4b receptor 1 like

Synonyms

Crry, mCRY

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

194781019-194813878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 194800101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 153 (T153I)

Ref Sequence

ENSEMBL: ENSMUSP00000142069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000194062] [ENSMUST00000194111]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075451
AA Change: T191I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: T191I

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
CCP	42	98	3.51e-6	SMART
CCP	103	160	1.61e-14	SMART
CCP	165	231	7.92e-14	SMART
CCP	237	293	5.23e-14	SMART
CCP	299	355	6.69e-12	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191775
AA Change: T131I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: T131I

Domain	Start	End	E-Value	Type
Pfam:Sushi	1	38	9e-6	PFAM
CCP	43	100	8e-17	SMART
CCP	105	171	3.9e-16	SMART
CCP	177	233	2.6e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193094
AA Change: T191I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: T191I

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
CCP	42	98	1.7e-8	SMART
CCP	103	160	8e-17	SMART
CCP	165	231	3.9e-16	SMART
CCP	237	293	2.6e-16	SMART
CCP	299	355	3.3e-14	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194062

SMART Domains

Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481

Domain	Start	End	E-Value	Type
CCP	1	52	2.9e-9	SMART
CCP	58	114	3.3e-14	SMART
transmembrane domain	123	145	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194111
AA Change: T153I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: T153I

Domain	Start	End	E-Value	Type
CCP	4	60	1.7e-8	SMART
CCP	65	122	8e-17	SMART
CCP	127	193	3.9e-16	SMART
CCP	199	255	2.6e-16	SMART
CCP	261	317	3.3e-14	SMART
transmembrane domain	326	348	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195586

Meta Mutation Damage Score

0.7244

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition. Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	T	C	4: 126,211,185 (GRCm39)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,598,552 (GRCm39)	R396L	probably benign	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pbx3	A	T	2: 34,114,572 (GRCm39)	S46T	probably benign	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc2a7	C	T	4: 150,233,978 (GRCm39)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Ttc7b	T	C	12: 100,353,438 (GRCm39)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		probably benign	Het

Other mutations in Cr1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Cr1l	APN	1	194,812,189 (GRCm39)	missense	possibly damaging	0.86
IGL01988:Cr1l	APN	1	194,799,858 (GRCm39)	missense	probably damaging	1.00
IGL02412:Cr1l	APN	1	194,797,074 (GRCm39)	missense	probably damaging	1.00
IGL02412:Cr1l	APN	1	194,797,080 (GRCm39)	missense	probably damaging	0.97
IGL02707:Cr1l	APN	1	194,806,019 (GRCm39)	missense	probably benign	0.03
IGL02726:Cr1l	APN	1	194,812,188 (GRCm39)	missense	probably damaging	1.00
R0105:Cr1l	UTSW	1	194,794,720 (GRCm39)	splice site	probably benign
R0153:Cr1l	UTSW	1	194,797,164 (GRCm39)	splice site	probably benign
R1444:Cr1l	UTSW	1	194,813,510 (GRCm39)	missense	probably damaging	0.99
R1760:Cr1l	UTSW	1	194,797,123 (GRCm39)	missense	probably benign	0.01
R2402:Cr1l	UTSW	1	194,789,210 (GRCm39)	missense	probably benign	0.04
R4583:Cr1l	UTSW	1	194,812,139 (GRCm39)	missense	probably damaging	0.97
R5977:Cr1l	UTSW	1	194,797,076 (GRCm39)	nonsense	probably null
R6113:Cr1l	UTSW	1	194,813,719 (GRCm39)	unclassified	probably benign
R6324:Cr1l	UTSW	1	194,793,430 (GRCm39)	missense	probably benign	0.07
R6424:Cr1l	UTSW	1	194,800,123 (GRCm39)	missense	probably damaging	1.00
R7082:Cr1l	UTSW	1	194,806,006 (GRCm39)	missense	probably benign	0.36
R7174:Cr1l	UTSW	1	194,811,497 (GRCm39)	missense	probably benign	0.00
R7199:Cr1l	UTSW	1	194,799,878 (GRCm39)	missense	probably benign	0.20
R7979:Cr1l	UTSW	1	194,800,030 (GRCm39)	missense	probably damaging	1.00
R8104:Cr1l	UTSW	1	194,799,925 (GRCm39)	missense	possibly damaging	0.80
R8958:Cr1l	UTSW	1	194,812,243 (GRCm39)	missense	probably damaging	1.00
R9091:Cr1l	UTSW	1	194,789,204 (GRCm39)	missense	possibly damaging	0.82
R9124:Cr1l	UTSW	1	194,799,925 (GRCm39)	missense	possibly damaging	0.80
R9185:Cr1l	UTSW	1	194,797,053 (GRCm39)	missense	probably damaging	1.00
R9199:Cr1l	UTSW	1	194,786,177 (GRCm39)	missense	probably benign	0.00
R9265:Cr1l	UTSW	1	194,806,027 (GRCm39)	missense	probably benign	0.24
R9270:Cr1l	UTSW	1	194,789,204 (GRCm39)	missense	possibly damaging	0.82
R9681:Cr1l	UTSW	1	194,800,149 (GRCm39)	missense	probably damaging	0.97
X0020:Cr1l	UTSW	1	194,812,161 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGCATGACTGCATTTTCAACATAGG -3'
(R):5'- GTAGCCCAGTACGAATCACTTTGACTT -3'

Sequencing Primer
(F):5'- CTGCATTTTCAACATAGGGAGGAG -3'
(R):5'- TAGGAAAGTCAGAGCACATGTTATTG -3'

Posted On

2013-04-16