Mutagenetix > Incidental Mutation

Incidental Mutation 'R9681:Cr1l'

728528

Institutional Source

Beutler Lab

Gene Symbol

Cr1l

Ensembl Gene

ENSMUSG00000016481

Gene Name

complement C3b/C4b receptor 1 like

Synonyms

Crry, mCRY

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

194781019-194813878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194800149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 175 (D175G)

Ref Sequence

ENSEMBL: ENSMUSP00000074902 (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: D175G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: D175G

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

probably damaging
Transcript: ENSMUST00000191775
AA Change: D115G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: D115G

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

possibly damaging
Transcript: ENSMUST00000193094
AA Change: D175G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: D175G

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

possibly damaging
Transcript: ENSMUST00000194111
AA Change: D137G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: D137G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	A	G	6: 72,324,450 (GRCm39)	D20G	probably damaging	Het
Acbd3	T	A	1: 180,566,082 (GRCm39)	Y258*	probably null	Het
Adamts1	T	A	16: 85,599,498 (GRCm39)	H34L		Het
Ankmy1	G	T	1: 92,813,882 (GRCm39)	N432K	possibly damaging	Het
Ano1	A	G	7: 144,143,893 (GRCm39)	M966T	possibly damaging	Het
Ark2n	A	T	18: 77,722,989 (GRCm39)	V349D	possibly damaging	Het
C2cd3	A	G	7: 100,023,662 (GRCm39)	T83A	probably benign	Het
Cdk1	T	A	10: 69,178,449 (GRCm39)	D137V	possibly damaging	Het
Cfap299	T	A	5: 98,477,214 (GRCm39)	M1K	probably null	Het
Chia1	A	G	3: 106,037,996 (GRCm39)	Y326C	probably damaging	Het
Ciz1	A	G	2: 32,260,974 (GRCm39)	D295G	possibly damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Crem	A	T	18: 3,268,067 (GRCm39)	V87E	probably damaging	Het
Cyp2b19	T	A	7: 26,466,328 (GRCm39)	L377Q	probably benign	Het
Ddx42	T	A	11: 106,125,679 (GRCm39)	V243D	probably damaging	Het
Dnah14	T	C	1: 181,562,414 (GRCm39)	V2658A	possibly damaging	Het
Dnah3	T	G	7: 119,677,611 (GRCm39)	M437L	probably benign	Het
Flrt2	T	A	12: 95,745,425 (GRCm39)		probably benign	Het
Gm10142	T	A	10: 77,551,880 (GRCm39)	C80*	probably null	Het
Gpr158	A	G	2: 21,831,315 (GRCm39)	E805G	probably damaging	Het
Grwd1	T	C	7: 45,479,473 (GRCm39)	E134G	probably benign	Het
Hdac11	T	A	6: 91,150,068 (GRCm39)	V289D	probably benign	Het
Hsdl1	T	C	8: 120,293,081 (GRCm39)	E118G	possibly damaging	Het
Igdcc4	T	A	9: 65,041,858 (GRCm39)	L1095Q	possibly damaging	Het
Ildr1	T	A	16: 36,528,749 (GRCm39)	C65S	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Itsn2	G	T	12: 4,683,499 (GRCm39)	V341F	unknown	Het
Jak1	G	A	4: 101,019,085 (GRCm39)	R723C	probably damaging	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Limd1	T	A	9: 123,345,903 (GRCm39)	C561S	possibly damaging	Het
Map3k19	A	G	1: 127,750,097 (GRCm39)	F1085L	possibly damaging	Het
Mcm7	A	T	5: 138,164,220 (GRCm39)	Y600*	probably null	Het
Mecom	A	T	3: 30,033,803 (GRCm39)	D300E	probably benign	Het
Mfap4	T	A	11: 61,376,925 (GRCm39)	Y51*	probably null	Het
Mug1	T	A	6: 121,833,254 (GRCm39)	N286K	probably benign	Het
Myl2	A	T	5: 122,240,783 (GRCm39)	R40*	probably null	Het
Nom1	A	G	5: 29,642,623 (GRCm39)	S375G	probably damaging	Het
Nrcam	C	A	12: 44,598,133 (GRCm39)	P368Q	probably null	Het
Oca2	G	C	7: 55,943,623 (GRCm39)	Q265H	probably null	Het
Or52a20	T	A	7: 103,366,475 (GRCm39)	F225I	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or5k8	T	A	16: 58,644,176 (GRCm39)	N299Y	possibly damaging	Het
Or6c88	A	T	10: 129,406,664 (GRCm39)	T47S	probably damaging	Het
Or7a41	G	A	10: 78,871,577 (GRCm39)	D316N	probably benign	Het
Palmd	T	C	3: 116,717,120 (GRCm39)	E459G	probably benign	Het
Pde1a	G	T	2: 79,695,465 (GRCm39)	A494D	probably benign	Het
Pds5a	T	C	5: 65,808,587 (GRCm39)	Y428C	probably damaging	Het
Pgm2	T	C	5: 64,254,391 (GRCm39)	F59L	probably benign	Het
Plekhm1	A	G	11: 103,258,950 (GRCm39)	V980A	possibly damaging	Het
Polb	T	C	8: 23,118,346 (GRCm39)	D318G	possibly damaging	Het
Rasgef1c	T	A	11: 49,861,040 (GRCm39)	M335K	probably damaging	Het
Rasgrp4	T	C	7: 28,849,687 (GRCm39)	S651P	probably benign	Het
Robo3	A	C	9: 37,334,558 (GRCm39)	I624S	possibly damaging	Het
Robo3	T	A	9: 37,339,087 (GRCm39)	H290L	probably benign	Het
Rps6kl1	T	C	12: 85,183,599 (GRCm39)	H482R	probably damaging	Het
Slc26a9	A	T	1: 131,681,691 (GRCm39)	E168V	probably benign	Het
Slc3a2	T	C	19: 8,691,226 (GRCm39)		probably benign	Het
Slc4a4	A	T	5: 89,102,723 (GRCm39)	K54*	probably null	Het
Slitrk6	A	G	14: 110,988,258 (GRCm39)	L483P	probably damaging	Het
Svep1	T	A	4: 58,084,959 (GRCm39)	N1793I	probably damaging	Het
Ttn	T	C	2: 76,612,723 (GRCm39)	I17119V	possibly damaging	Het
Tulp4	T	C	17: 6,274,500 (GRCm39)	L617P	possibly damaging	Het
Uhrf1	A	G	17: 56,625,083 (GRCm39)	N542S	possibly damaging	Het
Vmn1r151	T	A	7: 22,198,368 (GRCm39)	T246S	probably damaging	Het
Vmn1r57	T	A	7: 5,224,069 (GRCm39)	V198E	probably damaging	Het
Vmn2r99	A	T	17: 19,598,889 (GRCm39)	Q191L	probably damaging	Het
Vrk3	C	T	7: 44,403,356 (GRCm39)	T39M	possibly damaging	Het
Zc3h3	C	A	15: 75,681,470 (GRCm39)	R537L	probably damaging	Het
Zfp64	A	T	2: 168,793,680 (GRCm39)	V22E	probably damaging	Het
Zwint	T	C	10: 72,493,112 (GRCm39)	L218P	probably damaging	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
R0302:Cr1l	UTSW	1	194,800,101 (GRCm39)	missense	probably damaging	0.99
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
X0020:Cr1l	UTSW	1	194,812,161 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATTTTCAACATAGGGAGGAGG -3'
(R):5'- AGGAAAGTCAGAGCACATGTTATTG -3'

Sequencing Primer
(F):5'- CATTTGTTGAGTTCAATGCACTGAG -3'
(R):5'- GTCAGAGCACATGTTATTGTATGC -3'

Posted On

2022-10-06