Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Cr1l'

682138

Institutional Source

Beutler Lab

Gene Symbol

Cr1l

Ensembl Gene

ENSMUSG00000016481

Gene Name

complement C3b/C4b receptor 1 like

Synonyms

Crry, mCRY

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

194781019-194813878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 194812243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 27 (G27R)

Ref Sequence

ENSEMBL: ENSMUSP00000142069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000193829] [ENSMUST00000194111]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075451
AA Change: G65R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: G65R

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: G5R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: G5R

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: G65R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: G65R

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: ENSMUST00000193829

SMART Domains

Protein: ENSMUSP00000141996
Gene: ENSMUSG00000016481

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194111
AA Change: G27R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: G27R

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: 99.4%
20x: 97.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	probably null	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
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'- GACAAGAATGATGATCCACATGTAC -3'
(R):5'- GATCATGCATGGTCCATTGTAGC -3'

Sequencing Primer
(F):5'- ACAAAGGAGCCTCTTCTG -3'
(R):5'- TCCATTGTAGCTAGCTGGAGAAC -3'

Posted On

2021-08-31