Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Cr1l'

560127

Institutional Source

Beutler Lab

Gene Symbol

Cr1l

Ensembl Gene

ENSMUSG00000016481

Gene Name

complement C3b/C4b receptor 1 like

Synonyms

Crry, mCRY

MMRRC Submission

045277-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7199 (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 A at 194799878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 265 (R265S)

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 benign
Transcript: ENSMUST00000075451
AA Change: R265S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: R265S

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 benign
Transcript: ENSMUST00000191775
AA Change: R205S

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: R205S

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 benign
Transcript: ENSMUST00000193094
AA Change: R265S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: R265S

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
AA Change: R24S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481
AA Change: R24S

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 benign
Transcript: ENSMUST00000194111
AA Change: R227S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: R227S

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: 100.0%
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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,902 (GRCm39)	T39A	probably damaging	Het
Abca3	G	A	17: 24,596,681 (GRCm39)	G378D	probably damaging	Het
Abtb2	T	C	2: 103,397,565 (GRCm39)	V165A	possibly damaging	Het
Ache	A	G	5: 137,288,504 (GRCm39)	E70G	probably damaging	Het
Adamtsl4	T	C	3: 95,588,119 (GRCm39)	T623A	probably benign	Het
Ahdc1	G	A	4: 132,791,935 (GRCm39)	V1059I	probably benign	Het
Ajuba	G	A	14: 54,810,915 (GRCm39)	Q357*	probably null	Het
Ano7	A	T	1: 93,330,700 (GRCm39)	D54V		Het
Apob	A	T	12: 8,055,072 (GRCm39)	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,067,992 (GRCm39)	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,110,006 (GRCm39)	T352K	probably damaging	Het
Bsn	T	C	9: 107,992,533 (GRCm39)	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,180,054 (GRCm39)	R58*	probably null	Het
C7	G	T	15: 5,023,725 (GRCm39)	S694R	probably benign	Het
Cbr2	T	A	11: 120,621,087 (GRCm39)	H170L	probably benign	Het
Cdcp3	G	A	7: 130,837,641 (GRCm39)	W512*	probably null	Het
Cgas	C	A	9: 78,340,315 (GRCm39)	K472N	probably benign	Het
Ckap2l	T	C	2: 129,126,975 (GRCm39)	N401S	probably benign	Het
Cldn1	A	G	16: 26,190,346 (GRCm39)	F11L	probably benign	Het
Cmtr1	A	G	17: 29,895,174 (GRCm39)	T118A	probably benign	Het
Cog6	T	C	3: 52,890,610 (GRCm39)	E610G	probably benign	Het
Col3a1	G	T	1: 45,371,301 (GRCm39)	A451S	probably null	Het
Dapk1	T	C	13: 60,902,024 (GRCm39)	I951T	probably benign	Het
Dnah9	T	C	11: 66,009,770 (GRCm39)	N706D	probably benign	Het
Dpysl5	A	T	5: 30,940,539 (GRCm39)	T239S	probably benign	Het
Ect2l	T	A	10: 18,004,894 (GRCm39)	Y913F	probably benign	Het
Elf5	C	A	2: 103,269,641 (GRCm39)	A74D	possibly damaging	Het
Erap1	T	C	13: 74,814,258 (GRCm39)	V399A	probably benign	Het
Ercc4	A	G	16: 12,965,657 (GRCm39)	D763G	probably damaging	Het
Fam222b	T	A	11: 78,045,683 (GRCm39)	C415S	possibly damaging	Het
Fat4	A	C	3: 39,031,511 (GRCm39)	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,186,833 (GRCm39)	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282 (GRCm39)	T140S	probably damaging	Het
Gm5141	A	T	13: 62,924,877 (GRCm39)	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,007,079 (GRCm39)	L46Q	probably damaging	Het
Irak2	T	C	6: 113,650,045 (GRCm39)	L260P	probably damaging	Het
Kat2b	T	C	17: 53,977,706 (GRCm39)	L751P	probably damaging	Het
Kcnh1	T	A	1: 192,019,913 (GRCm39)	I413N	probably benign	Het
Kirrel1	T	C	3: 86,990,695 (GRCm39)	D709G	probably benign	Het
Lama4	T	C	10: 38,956,536 (GRCm39)	V1153A	possibly damaging	Het
Lipg	A	T	18: 75,088,655 (GRCm39)	F98L	probably benign	Het
Lman1	T	C	18: 66,127,936 (GRCm39)	E236G	probably damaging	Het
Lrp1	T	A	10: 127,409,325 (GRCm39)	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,650,384 (GRCm39)	N230Y	probably damaging	Het
Maneal	T	C	4: 124,750,983 (GRCm39)	S258G	possibly damaging	Het
Marchf10	T	A	11: 105,281,532 (GRCm39)	E251V	probably damaging	Het
Mpdz	A	G	4: 81,215,570 (GRCm39)	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,647,534 (GRCm39)	N1882I	probably benign	Het
Neb	G	A	2: 52,110,212 (GRCm39)	A212V	probably benign	Het
Obscn	G	A	11: 58,903,672 (GRCm39)	S7434L	probably benign	Het
Or14j8	A	C	17: 38,263,048 (GRCm39)	I289S	probably damaging	Het
Or1ad8	T	A	11: 50,898,223 (GRCm39)	C141*	probably null	Het
Or1j12	A	T	2: 36,342,872 (GRCm39)	I92F	probably damaging	Het
Or4k47	T	C	2: 111,451,538 (GRCm39)	M294V	probably benign	Het
Or8g2b	A	G	9: 39,750,753 (GRCm39)	M8V	probably benign	Het
Orc6	T	C	8: 86,029,590 (GRCm39)		probably null	Het
Otogl	T	G	10: 107,710,394 (GRCm39)	E565A	possibly damaging	Het
Papss1	A	G	3: 131,290,899 (GRCm39)	Q214R	probably benign	Het
Pck2	G	A	14: 55,786,169 (GRCm39)	V653M	probably benign	Het
Plxna4	G	A	6: 32,192,113 (GRCm39)	Q826*	probably null	Het
Pms1	T	A	1: 53,295,889 (GRCm39)	T161S	probably benign	Het
Prkar2a	C	A	9: 108,617,669 (GRCm39)	N242K	probably damaging	Het
Prss1	T	A	6: 41,439,690 (GRCm39)	I141N	probably damaging	Het
Puf60	A	G	15: 75,943,717 (GRCm39)	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,437,252 (GRCm39)	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,447,898 (GRCm39)	E104G	unknown	Het
Rcn3	T	C	7: 44,734,333 (GRCm39)	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,137,560 (GRCm39)	W354S	probably damaging	Het
Rp1	T	C	1: 4,417,513 (GRCm39)	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,745,460 (GRCm39)	K603*	probably null	Het
Selenbp1	G	A	3: 94,851,745 (GRCm39)	V429I	possibly damaging	Het
Setd5	T	G	6: 113,098,099 (GRCm39)	S713A	probably benign	Het
Shank1	T	C	7: 44,002,564 (GRCm39)	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,422,830 (GRCm39)	W361L	possibly damaging	Het
Spta1	A	T	1: 174,050,837 (GRCm39)	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,661,721 (GRCm39)	H370R	probably damaging	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tango6	T	C	8: 107,415,791 (GRCm39)	V204A	probably benign	Het
Tdrd5	G	A	1: 156,129,293 (GRCm39)	A139V	probably damaging	Het
Tenm2	A	T	11: 36,062,263 (GRCm39)	V534E	probably damaging	Het
Tfip11	A	T	5: 112,479,044 (GRCm39)	Q204L	probably benign	Het
Tlr4	A	T	4: 66,759,430 (GRCm39)	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,638,654 (GRCm39)	M111V	probably benign	Het
Togaram1	A	G	12: 65,042,292 (GRCm39)	N1167S	probably benign	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,520,176 (GRCm39)	F7S	probably damaging	Het
Vinac1	A	G	2: 128,880,238 (GRCm39)	S563P		Het
Vmn1r212	T	A	13: 23,067,731 (GRCm39)	M201L	probably benign	Het
Xaf1	C	A	11: 72,194,201 (GRCm39)	C27*	probably null	Het
Zeb1	T	C	18: 5,767,703 (GRCm39)	V738A	probably benign	Het
Zfp524	A	T	7: 5,020,883 (GRCm39)	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,047,118 (GRCm39)	H367L	probably damaging	Het
Zim1	G	A	7: 6,680,872 (GRCm39)	Q264*	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
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'- GATTGTTTGAACACCCACCCAC -3'
(R):5'- AGGCGCTCTTTAACCTGGTG -3'

Sequencing Primer
(F):5'- CACTGTATTCCCTCATCCAGAAC -3'
(R):5'- CTCCTCAGTGCATTGAAC -3'

Posted On

2019-06-26